Pediatrics Flashcards
1
Q
What is the DDx for direct hyperbilirubinemia?
A
Intrahepatic:
- Infections: hepatitis (usually viral) + sepsis + congenital infections
- Genetic/Metabolic: A1AT deficiency + CF + hypo-pituitary
- Drug/TPN induced
- Alagille syndrome
Extrahepatic:
- Biliary Atresia:
- Choledochal Cyst:
- Hypothyroidism
- Others: Caroli disease + sclerosing cholangitis + extrinsic compression (tumor)
2
Q
When does hemolytic anemia usually present?
A
Usually presents in first 24h
3
Q
Gait cycle has two phases
A
Stance (foot in contact with ground) and swing (foot in air)
4
Q
Why do most babies have physiologic jaundice?
A
Virtually all babies will have some degree of it because they relied on placenta to clear bilirubin and must now transition to their own hepatic system (Immature hepatic glucuronyl transferase) + Bilirubin production is increased due to elevated hematocrit and shorter life span of fetal RBCs
5
Q
What are some common and concerning diagnoses of a 4yo with an acute limp?
A
Common: Transient synovitis, minor injury/sprain, mechanical cause, growing pains
Concerning: Septic arthritis, cancer, JIA
6
Q
Classic triad for reactive arthritis?
A
Can’t see, can’t pee, can’t climb a tree (conjunctivitis, urethritis, arthritis)
7
Q
Who are high risk groups to consider testing for G6PD?
A
Positive FHx, Mediterranean, Middle Eastern, African, Southeast Asian
8
Q
Jaundice must be investigated if:
A
- It occurs within 24h of birth
- Conjugated hyperbilirubinemia is present
- Unconjugated bilirubin rises rapidly or is excessive for patient’s age and weight
- Persistent jaundice lasts beyond 1-2wk of age
9
Q
In transient synovitis, what should you tell the parents to come back if:
A
- Symptoms continue longer than 1 week
- Symptoms worsen
- New symptoms develop (fever or rash)
10
Q
What red flags on Hx would make you more concerned?
A
RED FLAGS: constitutional symptoms + night pain + red/hot swollen joint + functional impairment/unable to weight bear
11
Q
What is the surgical intervention called for biliary atresia?
A
Kasai procedure
12
Q
When does physiologic jaundice usually resolve?
A
Usually resolves within 1-2w
13
Q
Definition of hyperbilirubinemia in the newborn?
A
Total serum bilirubin >95th percentile on Bhutani nomogram in infants >35 wk GA
14
Q
What is biliary atresia?
A
Progressive idiopathic inflammatory process leading to chronic cholestasis and fibrosis of intra and extra hepatic bile ducts
15
Q
What is Osgood Schlatter Disease?
A
Overuse injury -> pain and swelling at tibial tubercle (point of insertion of patellar tendon) because of traction apophysitis (inflammatory reaction)
16
Q
How does jaundice typically progress?
A
Jaundice progresses cephalocaudal - first in face then moves downwards
17
Q
What is the DDx for indirect hyperbilirubinemia?
A
Increased production
- Hemolytic: Rh or ABO incompatibility (positive Coomb’s test)
- RBC membrane problems: spherocytosis, elliptocytosis
- RBC enzyme problems: PK deficiency, hexokinase deficiency, G6PD (X-linked – however female heterozygotes can have a 50% reduction of the enzyme)
- Increased RBC load: extravascular blood (cephalohematoma)
Decreased clearance - Inherited defects in the gene that encodes UGT1A1, which catalyzes the conjugation of bilirubin with glucuronic acid
- Crigler-Najjar syndrome
- Gilbert syndrome
Increased enterohepatic circulation of bilirubin
- Breast milk jaundice
- Ileus or intestinal obstruction
Lactation (breastfeeding) failure jaundice
18
Q
2 year old that has been “walking funny” over the past 4 months. What features would help differentiate an inflammatory vs mechanical cause?
A
19
Q
Secondary prevention of hyperbilirubinemia?
A
Secondary: blood typing (avoid isoimmunization) + clinical assessment (monitor for jaundice)
Detecting Jaundice: blanch skin with digital pressure - underlying color of skin/subcutaneous tissue will show; usually first seen in face then in trunk/limbs
20
Q
Investigations and management of Legg-Calvé Perthes Disease
A
Diagnose with AP + frog leg view hip X-rays, refer to ortho + watchful waiting to maintain position of femoral head and preserve ROM +/- surgery or splinting (brace in flexion/abduction x 2-3 years) + PT (ROM exercises) – at higher risk of early OA
21
Q
Where does osteosarcoma originate?
A
Typically affects long bones (originates in the metaphysis)
22
Q
Definitive diagnosis of biliary atresia?
A
Cholangiogram
23
Q
What is the treatment for JIA?
A
Initial treatment: NSAIDS and DMARDS. 1 or 2 joints - naproxen is used as the main treatments. With only a few joints involved probably not steroids. Kids can remain on NSAIDS longer than adults Refer to pediatric rheumatology
24
Q
How would you expect a child with SCFE to be sitting
A
Abducted + externally rotated
25
Presentation for acute rheumatic fever
Presentation: initial episode occurs 2-3wks AFTER the GAS infection + increased WBC + ESR but throat culture usually negative; high and rising ASOT
26
Primary prevention of hyperbilirubinemia?
* Breast feeding; 8-12 times/d for first several days - poor caloric intake/dehydration can contribute to hyperbilirubinemia + increasing breastfeeding frequency decreases risk, don’t routinely supplement non-dehydrated breastfed infants with water/dextrose - will not prevent hyperbilirubinemia
* All infants should be screened total serum bilirubin at 72 hrs of life
27
What are the risk factors for neonatal jaundice?
* Premature \<38 weeks
* Visible jaundice \<24hrs
* Visible jaundice before discharge from hospital at any age
* Previous sibling with severe hyperbilirubinemia
* Visible bruising
* Cephalohematoma
* Male sex
* Maternal age \>25 years
* Asian or European background
* Dehydration
28
When should physiologic jaundice clear up by?
Resolves by 1 week if full term, 2 weeks if premature.
29
6 year old, thin, dull, aching pain in left groin. #1 diagnosis?
Legg-Calve-Perthes Disease. A painless limp in a child under the age of 10 should raise concern regarding Perthes disease.
30
Management of low risk BRUE
Low risk: educate caregivers, resources for caregiver CPR training, No apnea monitor - can increase anxious, Infants should be reevaluated within 24 hours. What if it happens again? No longer low risk - high risk therefore they need to come in to ER
31
Questions to ask on Hx for a child presenting with limping?
* Age
* Limp
* Onset (acute vs chronic) - acute injury or infectious origin.
* Progression + daily pattern (AM stiffness/gelling phenomenon) + ability to weight bear/impact on normal activities + provoking/alleviating factors
* Joint symptoms: swelling of jt, stiffness, jt above and below
* Painful?: continuous or intermittent + night time + localization
* Systemic symptoms: fever, chills, malaise, night sweats + appetite/weight loss + rash
* Triggers: Sports or activities involved in, preceding injury or recent infection
32
Arthritis during or immediately after an infection (GI, GU, etc.) Ex: post-strep arthritis (not meeting ARF criteria)?
Post-Infectious/Reactive Arthritis
33
How often is underlying etiology found in BRUE?
About 50%
34
What are some signs of chronicity of disease with a limp?
* Leg/limb length discrepancy
* Muscle wasting
* Joint deformities/contractures
35
Most common primary malignant bone tumor in children/adolescents
Osteosarcoma
36
What is the clinical presentation of extrahepatic cause of direct hyperbilirubinemia?
Baby is well, full term, hepatomegaly, abnormal facies, acholic stool
37
Investigations + management of septic arthritis
Joint aspiration (high WBC, \>75% PMNs)/gram stain and culture + XR (to r/o fracture, tumor, or metabolic bone disease) + CRP + WBC + blood culture à consult ortho for I&D + admit to hospital for IV abx (empiric \> guided) x 3-6 weeks
38
What is the definition of SCFE?
Displacement of the femoral epiphysis off the femoral neck at the physis
39
How does JIA usually present?
* More often in girls
* Children typically have joint stiffness (in AM), swelling, effusion, pain, and tenderness, but some children have no pain
* Joint manifestations may be symmetric or asymmetric
* The most common comorbidity is iridocyclitis (inflammation of the anterior chamber and anterior vitreous)
40
What are some important aspects of the physical exam with a child with an acute limp?
* PGALS: check for rash + hypermobility
* Gait: child should be barefoot with as much of legs exposed as possible + toe/heel gait
* Joints: SEADSS (swelling, erythema, atrophy, deformity, skin changes, symmetry) + ROM + tenderness + effusions + special tests + always examine joint above and below
41
Presentation of septic arthritis?
Acute onset fever, refusal to walk, red/hot swollen joint - more common in infants + toddlers; rapid onset symptoms with limp then refusal to walk, usually single joint (knee and hip) from hematogenous spread
42
What should be your investigations if you are considering unconjugated hyperbilirubinemia?
* Hemolytic workup: CBC, reticulocyte count, blood group (mother and infant), peripheral blood smear, Coombs test
* If baby is unwell or has fever: septic workup (CBC and differential, blood and urine cultures - ± LP, CXR)
* Other: G6PD screen (especially in males), TSH
43
What is the prophylaxis for acute rheumatic fever
Prophylaxis: monthly IM penicillin/erythromycin (for 5yrs or until 21yo, whichever is longer)
44
Risk factors for SIDS?
Maternal factors: young maternal age (less than 20 years), maternal smoking during pregnancy, maternal alcohol and drug abuse during pregnancy, late or no prenatal care
Infant factors: preterm birth and/or low birth weight , prone sleeping position, sleeping on a soft surface and/or with bedding accessories such as blankets and pillows, sibling of a SIDS victim
Environmental factors: exposure to second hand smoking, bed sharing, overheating
45
What investigations can you do for transient synovitis?
* No investigations required
* Could do CBCd (WBC and ESR normal)
* Xray usually normal, US can show effusion
46
What must a clinician do when encountering a case of SIDS?
A request for a complete autopsy and involvement of the medical examiner (coroner).
47
What is deemed low/high risk stratification for BRUE?
Low risk if: age \>60 days, born \>32 weeks and CGA \>45 weeks, no CPR, event \<1min, first event. Only applies if no concerns on history and physical exam (no FHx of sudden cardiac death, social concerns or subtle feeding or respiratory problems)
High risk: Does not fall under low risk category
48
What investigations would you consider in a child with SCFE? What would you suggest while awaiting further investigation?
X-rays of hips - AP pelvis, frog-leg lateral, bilateral Others: blood work, US, MRI Awaiting further investigation: non-weight bearing, pain control, crutches
49
What should be included in physical exam of BRUE
Abnormal vital signs, respiratory signs, obvious malformations and deformities, neurologic abnormalities (eg, posturing, inappropriate head lag), signs of infection or trauma (particularly including retinal hemorrhage on funduscopy), and indicators of possible physical abuse
50
Symptoms of acute bilirubin encephalopathy?
Lethargy, poor feeding, high-pitched cry, hypotonia - apnea, seizures, coma
51
When does JIA need to start by?
\<16 years
52
Describe the pathophysiology of hyperbilirubinemia.
RBC broken down into globin and heme - globin is recycled, heme is metabolized into bilirubin
Unconjugated bilirubin not water soluble, binds to albumin in the blood for transport to the liver, where it is taken up by hepatocytes and conjugated with glucuronic acid by the enzyme UGT to make it water-soluble
Conjugated bilirubin = more water soluble - can be excreted
53
What is the definition of BRUE?
An event occurring in an infant younger than 1 year of age when the observer reports a sudden, brief (\< 1min) and now resolved episode of \>1 of the following:
* Cyanosis or pallor
* Absent, decreased or irregular breathing
* Marked change in tone (hyper- or hypotonia)
* Altered level of responsiveness
54
Presentation of Osgood Schlatter Disease?
9-14y after rapid growth spurt (since high levels of activities) – usually asymmetric anterior knee pain increasing over time and worse with use, better with rest = tender over tibial tubercle (potentially feel lump), pain reproduced with knee extension against resistance and squatting
55
What should be asked on history for BRUE?
* Observations by the caregiver who witnessed the event, particularly a description of changes in breathing, color, muscle tone, and eyes; noises made; length of episode; and any preceding signs such as respiratory distress or hypotonia
* Interventions taken
* Prenatal (maternal) and current family use of drugs, tobacco, and alcohol
* Information about the infant's birth (eg, gestational age, perinatal complications)
* Feeding habits (whether gagging, coughing, vomiting, or poor weight gain has occurred)
* Growth and development history (eg, length and weight percentiles, developmental milestones)
* Prior events, including recent illness or trauma
* Recent exposure to infectious illness
* Family history of similar events, early deaths, long QT syndrome or other arrhythmias, or possible causative disorders
56
How often is SCFE bilateral?
30%
57
What is defined as SIDS?
Sudden and unexpected infant death \<12mo + cause not found history, exam, or death scene investigation
58
What is the clinical presentation of intrahepatic cause of direct hyperbilirubinemia?
Baby is ill (won’t feed, lethargic, hypotonic), preterm, SGA, hepatosplenomegaly, dark urine but normal stool
59
When does breast milk jaundice occur and when does it peak?
Presents after a few days, peaks ~2w, then declines to normal over 3-12w
60
What is the most common subtype of JIA?
Oligoarticular JIA (50%)
61
Investigations + management of Osgood Schlatter Disease?
Diagnose clinically (no need for X-rays) à benign and self-limited once growth plate ossifies + symptomatic treatment (NSAIDs/rest/flexibility) and PT to strengthen quads, no activity limitation; consider surgical excision in refractory cases if severe and skeletally mature
62
Management of neonatal jaundice?
* UV phototherapy (converts bilirubin into a form that is more easily excreted)
* Severe/Refractory: exchange/blood transfusion
63
What is the treatment of transient synovitis?
* Usually self-limiting
* Ressaurance + anti-inflammatories
* Follow-up
64
What is defined as pathologic unconjugated bilirubin and when does it show up?
Total Serum Bilirubin: rising \>5mg/dL/day or continuing to rise after day 5.
Present at birth or in first 24h
65
2nd most common bone malignancy in children/adolescents, 2-3% of all ped’s Ca. Undifferentiated, small, round cell tumor, usually arise in bone (extraosseous is rare); typically affects long bone of the extremities (femur \> tibia, fibula, humerus) and bones of the pelvis
Ewing Sarcoma
66
If a child has JIA, who else should they be referred to?
Optometrist/ophthalmologist - uveitis
67
What is alagille syndrome
Inherited condition (autosomal dominant) in which bile builds up in the liver because there are too few bile ducts to drain the bile
Other features include peripheral pulmonic stenosis, skeletal abnormalities
68
True or False, an infant who experiences a BRUE is at an increased risk of SIDS
False
69
What are some prevention strategies for SIDS?
Back to sleep (flattens occiput), don’t share bed, appropriate infant bedding (firm mattress + no loose bedding or pillows), smoking cessation, avoid overheating, breastfeeding, room sharing
70
Investigations + management of osteomyelitis
CBCd + CRP + blood culture/aspirate culture or bone biopsy + bone scan + MRI more sensitive than X-rays for early diagnosis
IV abx (4-6wk cefazolin\> guided) then stepdown to oral keflex when clinically improved + surgical drainage/debridement of infected bone PRN
71
Presentation of osteomyelitis
Presentation: febrile + painful palpation (usually not warm or swollen) +/- effusion in adjacent joint; possibly elevated WBC, ESR, CRP + initially normal X-rays
72
Characteristic symptoms of Legg-Calvé-Perthes disease
Pain in the hip joint and gait disturbance (eg, limping); some children complain of pain in the knee. Onset is gradual, and progression is slow. Joint movements are limited, and thigh muscles may become wasted
73
Most common benign bone tumors in adolescents, arising as an outward growth from almost any bone, arises from cartilage – generally painless – see on XR – generally not removed
Osteochondroma
74
What is the most common cause for a limping child?
Trauma (acute or chronic)
75
What is the definitive treatment for SCFE?
Surgical fixation (pinning)
76
What is a major complication of SCFE?
AVN of the femoral head
77
Investigations + management of acute rheumatic fever?
GAS testing (culture + rapid stress test) + joint aspiration (to rule out other causes of arthritis) + ECG/cardiac markers + echo w/ doppler + ESR/CRP; dramatic response to ASA + penicillin/erythromycin (x10d) treatment/prophylaxis + prednisone (if severe carditis) 1mg/kg PO BID up to 60mg/d
78
What is the DDx for a limping child?
Infectious/Post-Infectious:
* Transient Synovitis
* Reactive Arthritis
* Septic Arthritis
* Rheumatic Fever
* Lyme Disease
* Osteomyelitis
Inflammatory:
* Juvenile Idiopathic Arthritis
* SLE
* HSP
Orthopedic/Mechanical:
* Trauma/Overuse
* Osgood Schlatter Disease
* SCFE
* LCPD
Malignancy:
* Leukemia
* Bony Tumors
* Neuroblastoma
* Hemophilia
* Sickle Cell Anemia
Other: growing pains
79
Which one is usually more severe; Rh incompatibility or ABO
Rh incompatibility usually more severe than ABO
80
What is positional plagiocephaly?
A condition in which specific areas of an infant's head develop an abnormally flattened shape and appearance. To prevent, the orientation of the baby's head should be varied
81
When should you suspect malignancy (Leukemia/Osteosarcoma/Ewing’s Sarcoma)?
Suspect if pain is out of proportion to physical findings + weight loss + anorexia + night waking/pain + abnormal bruising + pallor + masses + anemia + low WBC + low platelets
82
What is the Jones criteria?
2 major OR 1 major + 2 minor + evidence of preceding strep infection (hx of scarlet fever, GAS pharyngitis, positive rapid strep test, ASOTs)
Major: carditis + chorea + erythema marginatum + polyarthralgia (very tender – most common)+ subcutaneous nodules
Minor: elevated ESR/CRP + fever (=\> 38.5) + prolonged PR interval (ECG)
83
What is the treatment for lyme disease?
Initial treatment: IV or oral antibiotics Ceftriaxone for 14d Amoxil or doxycycline for 4w (doxy for \>8y)
84
12 year old who is obese - dull, aching pain in his left groin. What is the #1 diagnosis with are considering?
SCFE
85
What would determine the frequency of visits to ophthalmology for a child with JIA?
Females \> Males Young age (\<7y at diagnosis) Subtype of JIA ANA positivity
86
What should be your investigations if you are considering conjugated hyperbilirubinemia?
* Liver enzymes (AST, ALT), coagulation studies (PT, PTT), serum albumin, ammonia, TSH, TORCH screen, septic workup, glucose, metabolic screen, abdominal U/S, HIDA scan, sweat chloride
* Others: liver biopsy, open cholangiogram, ERCP
87
Bilateral deep muscular rather than joint pain in arm, calf, thigh, leg muscles – onset at night and resolves by morning (1-2 times per week); pain is paroxysmal and may be severe – occurs at least monthly for \>3 months with intermittent symptoms free periods accentuated by ^ physical activity during the day
Growing Pains
88
Treatment for Ewing's sarcoma and osteosarcoma?
Chemoradiation
89
\_\_\_\_\_\_\_\_ is a broader term that includes transient synovitis
Reactive syndrome
90
What condition might present similar to biliary atresia?
Choledochal Cyst
91
Transient synovitis mostly affects which joints?
Large joints (hip, knee)
92
Management of high risk BRUE
High risk: Hospitalized, cause treated, follow-up with their primary care physician within 24 hours of discharge
93
Common presentation of SCFE?
Obese adolescent.
The first symptom of SCFE may be hip stiffness that abates with rest; it is followed by a limp, then hip pain that radiates down the anteromedial thigh to the knee. Up to 15% of patients present with knee or thigh pain, and the true problem (hip) may be missed until slippage worsens.
94
Etiology for BRUE
* Misinterpretation of normal physiology in an infant (e.g., transient choking with rapid feeding or with coughing during feeding, periodic breathing/ respiratory pauses of 5-15 seconds)
* Digestive: Gastroesophageal reflux disease or swallowing difficulty when associated with laryngospasm or aspiration
* Neurologic: Neurologic disorders (eg, seizures , brain tumors , breath holding or abnormal brain stem neuroregulation of cardiorespiratory control, hydrocephalus , brain malformations )
* Respiratory: Infections (eg, respiratory syncytial virus , influenza , pertussis)
* Infectious: Sepsis , meningitis
* Cardiac disorders: arrhythmia
* Metabolic disorders (e.g., inborn error of metabolism)
* Upper airway obstruction (eg, obstructive sleep apnea)
* Other (eg, drug-related, anaphylaxis, abuse)
95
When does breast feeding jaundice typically occur?
Occurs in the first week of life
96
What is the peak age for transient synovitis?
3-8 years
97
What testing should be done for high risk BRUE?
High risk: CBCd, lytes, liver tests, lactate, CXR, blood, urine, CSF cultures, echo, ECG, lumbar puncture, pertussis testing, skeletal survey, tox screen, UA
98
What is defined as pathologic conjugated bilirubin and when does it show up?
Conjugated Bilirubin: \>2mg/dL or \>20% total serum bilirubin
\>14d
99
What are some investigations for limp in a child?
* Infection/Inflammation: CBCd + ESR/CRP + joint aspiration for C&S/Cell count (septic arthritis) + ASOT/throat swab (for rheumatic fever or post-strep reaction) + Mantoux skin test + urinalysis + virus/bacterial serology + CK + PTT + slit lamp examination of eyes
* Injury: AP + lateral radiographs
* Malignancy/Infection/AVN: bone scan to detect bone metabolic activity + peripheral smear (leukemia)
* Rheumatologic: ANA + RF + HLA-B27 + lupus anti-B’s + sickle cell screen + immunoglobulins + complement
100
A little boy, who is otherwise well, with a limp after URTI?
Transient Synovitis
101
What is breastfeeding jaundice?
While breastfeeding gets established, lactation failure, inadequate intake = significant weight/fluid loss leading to hemoconcentration of bilirubin and fewer bowel movements which increase the enterohepatic circulation of bilirubin (increased reabsorption of bilirubin in the intestines)
102
How long does JIA last for?
At least 6 weeks
103
Symptoms of chronic bilirubin encephalopathy?
Kernicterus - irreversible brain damage, mostly to basal ganglia leading to movement disorders (cerebral palsy), hearing loss, gaze abnormalities, but will have normal intelligence
104
What testing should be done for low risk BRUE?
Low risk: Observe for a brief period with continuous pulse ox, 12-lead ECG, testing for pertussis
105
Presentation of biliary atresia?
Initially thrive and seem healthy, then start to get biliary obstruction (jaundice, acholic stools, dark urine, HSM)
106
Etiology of abdominal pain in newborns
Intestinal obstruction (ie. volvulus, Hirshsprung, pyloric stenosis), hernia, trauma, peritonitis (i.e. necrotizing enterocolitis, GI perforation), GER
107
Etiology of abdominal pain in infant (\<2 years)?
Constipation, acute gastroenteritis, hernia, volvulus, intussusception, colic, toxic ingestion, trauma, respiratory illness
108
Etiology of abdominal pain in children (2-18 years)?
Acute gastroenteritis, Constipation, intestinal obstruction, testicular torsion, respiratory illness, mesenteric adenitis, urinary tract infection/pyelonephritis, toxic ingestion, food poisoning, trauma, HSP, appendicitis, pancreatitis, cholecystitis
109
Etiology of abdominal pain in adolescence (12 - 18 years)?
Trauma, dysmenorrhea, pelvic inflammatory disease, ovarian torsion/cysts, constipation, toxic ingestion, food poisoning, pregnancy (ectopic), testicular torsion, gastroenteritis.
110
History for abdominal pain in children?
* HPI: OPQRST, previous episodes of similar pain, trauma history, pain interfering with activities or sleep
* Associated symptoms: fever, vomiting (bilious vs. non-bilious, bloody), hard stools, diarrhea, bloody stool, anorexia, cough, SOB, sore throat, urinary symptoms, vaginal bleeding/discharge, joint pain, rash, weight loss
* Past medical & past surgical history
* Menstrual history: age at menarche, duration, frequency, blood flow, dysmenorrhea, last menstrual period (LMP)
* Sexual history: partners, practices, past sexually transmitted infections (STIs), STI protection, contraception
* Medication history: some meds can cause nausea or abdominal pain
* Family history: sickle cell anemia, cystic fibrosis, etc.
* SHx (HEADSSS)
111
In general, if pain precedes vomiting, it is a ______ of abdominal pain. If the pain started after vomiting, it is more likely to be a ________ of abdominal pain.
In general, if pain precedes vomiting, it is a surgical cause of abdominal pain. If the pain started after vomiting, it is more likely to be a medical cause of abdominal pain.
112
Red flags of abdominal pain in children?
B symptoms/FTT + GI blood loss + significant vomiting + chronic severe diarrhea + persistent RLQ pain + unexplained fever + IBD FHx + age \<5 + night-waking from pain + joint pain
113
Presentation of appendicitis in children?
More likely to be diffuse or periumbilical than localized to RLQ in toddlers and children. May be intermittent initially – progresses to constant. Anorexia, nausea and vomiting are common, while diarrhea is uncommon. Less obvious clinical features such as irritability, lethargy, grunting respirations and right hip complaints (pain, stiffness, and limp), may also be present. 87-100% of children have a fever of greater than 37°C.
114
What is the most common cause of acute abdomen in 5+ yo?
Appendicitis
115
What is the most common pathophysiology of appendicitis in children?
Hyperplasia of lymphoid follicles
116
Investigations of appendicitis in children?
High WBC with left shift, bHCG to r/o ectopic, Urinalysis, U/S first then CT
117
Treatment of appendicitis in children?
Hydration, electrolyte correction, lap-appendectomy with pre-op cefazolin and metronidazole (only in complicated)
118
What usually presents like appendicitis in children and has diffuse abdominal tenderness, rhinorrhea and pharyngitis and extramesenteric lymphadenopathy?
Mesenteric lymphadenitis
119
What has the presentation of steady and sudden-onset pain radiating to the back, nausea, vomiting, history of cholelithiasis
Acute Pancreatitis
120
Pathophysiology of Meckel's diverticulum
True diverticulum – all layers of the wall of the gut. Usually in terminal ileum. Persistence of vitelline duct
121
Presentation of Meckel's diverticulum
2 yo male RLQ pain & blood in stool. DDx: appendicitis
122
What is the rule of 2s for Meckel’s diverticulum?
Rule of 2s: 2 inches long, 2 feet from ileocecal valve, 2x more likely in males, 2 years of age, 2 types of ectopic tissue (gastric or pancreatic)
123
Diagnosis of Meckel’s diverticulum
Technicium 99m scan
124
Physical exam of Meckel’s diverticulum?
Bloody stools, abdominal tenderness with guarding, rebound tenderness
125
Infantile colic rule of 3s
\<3wks old, 3 hours per day, 3d/w
126
Diagnosis of infantile colic?
Unexplained paroxysms of irritability and crying for \>3h/d, \>3d/wk for \>3wk in an otherwise healthy, well-fed baby (rule of 3s), no failure to thrive
127
What is the presentation of peptic ulcer disease in children?
Epigastric tenderness, pain related to eating a meal, ulcer can perforate
128
Physical exam findings for urinary tract infection in children?
Fever, suprapubic and costovertebral angle tenderness, irritability, foul-smelling urine, gross hematuria
129
Investigations for UTI in children?
Urine dipstick (for leukocyte esterase and nitrite), urine microscopy, urine culture (best if suprapubic aspirate)
130
Presentation of UTI in children?
Dysuria, polyuria, hematuria, can progress to pyelonephritis
131
Presentation of primary dysmenorrhea?
History of menstrual periods and regularity, consider sexual history
132
Physical exam findings for primary dysmenorrhea?
Lower abdominal tenderness
133
Presentation of ovarian torsion?
Sudden onset severe constant or intermittent lower stabbing abdominal pain +/- N/V
134
Investigations of ovarian torsion?
Pelvic U/S + Doppler flow studies
135
Management of ovarian torsion?
Surgical emergency; admit and consult GenSurg/Gyne for surgical detorsion or oophorectomy
136
Etiology of chronic abdominal pain?
1. Organic : gastrointestinal, genitourinary causes, neoplastic
2. Functional abdominal pain (90%)
137
When can functional abdominal pain be diagnosed?
Can be diagnosed when there are no alarming signs or symptoms, physical exam is normal, and stool sample tests are negative for occult blood; no further testing is required, unless high suspicion for organic cause
138
What are the alarm symptoms of functional abdominal pain?
Alarming symptoms include involuntary weight loss, deceleration of linear growth, GI blood loss, significant vomiting, chronic severe diarrhea, persistent upper or right lower quadrant pain, unexplained fever, family history of IBD
139
Functional abdominal pain can be subdivided into
1. functional dyspepsia (pain in upper abdomen)
2. Irritable bowel syndrome (alternating bowel movements)
3. abdominal migraine (paroxysmal abdominal pain, associated with anorexia, nausea, vomiting, pallor)
4. functional abdominal pain syndrome
140
Clinical features of functional abdominal pain?
* Clustering episodes of vague, crampy periumbilical/epigastric pain, vivid pain description
* Seldom awakens child from sleep, less common on weekends
* Aggravated by exercise, alleviated by rest
* Psychological factors related to onset and/or maintenance of pain, school avoidance
141
What is the rule of 3s for chronic abdominal pain?
Rule of 3s: 3 episodes of severe pain, Child \>3 yr old, Over 3 mo period
142
Management of chronic abdominal pain?
* Continue to attend school
* Manage any emotional or family problems, counselling, CBT
* Trial of high fibre diet, trial of lactose-free diet
* Medication should be for symptom relief - acid reduction therapy for dyspepsia, antispasmodic agents, smooth muscle relaxants for pain, non stimulating laxatives or antidiarrheals for altered bowel pattern
* Possible role for amitriptyline
143
Investigations for abdominal pain in children?
* CBCd + CRP + U/A + bHCG (in adolescent females) + stool culture/viral panel + C. Diff toxin +
* XR (supine + erect/LLD): ileus/bowel obstruction, free air – perforated viscus, fecalith, malrotation, intussusception, constipation
* CT Abdo: abscesses, appendicitis, solid organ abnormalities, tumors, peritoneal disease
* U/S Abdo: pyloric stenosis, appendicitis, testicular/ovarian torsion (+ Doppler for blood flow), pelvic disease, intussusception
144
When do children typically most children will achieve daytime urinary continence by 4 + night-time continence by 5
Most children will achieve daytime urinary continence by 4 + night-time continence by 5
145
What is daytime enuresis?
Problematic if \>4yrs old wetting on consecutive days or if child had previously been continent (stress/abuse can be triggers)
146
What is the probability that a child has enuresis if their parent does?
Strong genetic component (50% chance if 1 parent w/ enuresis, 80% chance if both)
147
What is primary nocturnal enuresis?
Primary: nocturnal wetting in a child who has never been dry on consecutive nights for longer than six months
148
What is secondary nocturnal enuresis?
Secondary: new-onset nighttime wetting after the child has had a 6-month or greater period of dryness
149
Is secondary nightime enuresis more likley an organic or psychiatric cause?
Usually not an organic cause, more related to underlying psychiatric or emotional problems
150
Pathophysiology of nocturnal enuresis?
Pathophysiology: excessive nocturnal urine production; possibly from abnormal ADH release + smaller than normal bladder capacity + failure to awaken in response to bladder sensation (deep sleeper, difficult to arouse)
151
DDx of bladder causes of enuresis?
* Neurogenic Bladder: cerebral palsy + sacral agenesis
* Problem with Storage: hypersensitive bladder or inadequate sphincter tone = urgency
* Problem with Emptying: overflow incontinence b/c of infrequent or incomplete voiding, micturition deferral
* Lazy Bladder Syndrome
* Hinman Syndrome
152
What is lazy bladder syndrome?
Child voids \<3 times per day, bladder may be enlarged \> detrusor muscle decompensates - need to strain to void = incomplete voiding
153
What is Hinman Syndrome?
Eetrusor decompensation + bladder trabeculation + acquired vesicoureteral reflux + hydronephrosis and reflux nephropathy - can lead to renal insufficiency or chronic renal failure if not promptly identified and treated
154
DDx of anatomic causes of enuresis?
Anatomic: congenital urethral obstruction + ectopic ureter + labial fusion (leaks when child stands)
155
DDx of systemic causes of enuresis?
Diabetes insipidus + UTIs + constipation - spontaneous detrusor muscle contractions
156
What should be asked on history for enuresis?
* Pattern: number of days/nights per week + number of episodes per day + when in the night
* Volume: of enuresis + if they still have normal volume void in morning after
* Urinary Symptoms: dysuria + frequency + dribbling
* Other: voiding history + bowel habits + toilet training + fluid intake + caffeine intake
* FHx: of same
* SHx: abuse + big changes + psychosocial stressors
* What therapies have been tried already? Family/child’s attitude to wetting, readiness/motivation to start tx
* ROS: sleep disorders (incl. snoring, daytime somnolence for OSA) + polydipsia + polyuria + weight loss for DM
157
What should be performed on physical exam for enuresis?
GI + urogenital (get a sense of distended bladder or fecal impaction) + neurological exam + male exam for phallus/meatus + female exam for labial adhesions or urethral abnormalities + muscle tone/coordination of lower extremities + DTRs + sensorimotor + spinal cord malformations
158
Investigations for enuresis?
Urinalysis (for UTI, renal disease, DM) + consider renal U/S + voiding cystourethrogram
159
What are some non-medical treatments for enuresis?
* Bladder Diary/Education/Reassurance: enuresis not within child’s control so avoid punishment and negative reinforcement, protect self-esteem and social relationships
* Motivational therapy (reward child for dry days/nights)
* Lifestyle Modification: void regularly and before bed, limit fluids before bedtime, avoid caffeine/bladder irritants, manage constipation
* Behavioural Therapy: bed alarm that is triggered by dampness in clothing
160
What are some medications that can be used to treat enuresis?
* Desmopressin: synthetic ADH analogue - reduces urine production; not a permanent cure and enuresis returns when medication stopped
* Others: anticholinergics + TCAs
161
What is first line treatment for younger children with enuresis?
Motivational therapy (reward child for dry days/nights)
162
What are some developmental red flags?
* Regression of skills at any time
* Gross Motor – Not sitting by 7 mo, not walking by 18 mo
* Fine Motor – Handedness by 10 mo (usually at 2 years)
* Speech – \<10 words at 18 mo
* Social – No smile by 6 -8 weeks
* Intellectual - No object permanence by 9-10 mo, No pointing/showing or joint attention by 18 mo
163
What is the diagnosis of FASD
A - Confirmed maternal alcohol exposure.
B - Evidence of characteristic pattern of facial anomalies including: short palpebral fissures and abnormalities in the premaxillary zone (e.g., flat upper lip, flattened philtrum, and flat midface)
C - Evidence of growth retardation, in at least one of the following:
* low birth weight for gestational age
* decelerating weight over time not due to other identified causes
* disproportional low weight to height
D - Evidence of CNS abnormalities in at least one of the following:
* decreased cranial size at birth
* structural brain abnormalities (e.g., microcephaly, cerebellar hypoplasia)
* Neurobehavioral impairment - Significant global cognitive or intellectual deficits
* Neurological hard or soft signs (as age appropriate), such as impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor hand-eye coordination
164
What are the physical findings of FASD?
* Facial Features (TRIAD): because of midface hypoplasia = short palpebral fissures (\<3%ile), smooth philtrum (e.g. very flat/elongated), thin upper lip (e.g. very small cupid’s bow, thin upper lip)
* Other Physical Findings: flat midface + short nose + epicanthal folds + low nasal bridge
165
What does global developmental delay predict in the future?
Predict a diagnosis of intellectual disability in the future
166
Definition of Global Developmental Delay?
Significant delay (at least 2 SDs below the mean with standardized tests) in at least two developmental domains (gross motor, fine motor, speech/language, cognitive, social/personal, activities of daily living) in a child \<5 yr of age
167
History for Global Developmental Delay?
* Detailed developmental milestones: rate of acquisition, regression of skills
* Associated problems: feeding, seizures, behaviour, sleep
* Ototoxic antibiotics, frequent ear infections
* Family histories
168
Physical exam for Global Developmental Delay?
* Micro/macrocephaly, dysmorphic features head-to-toe, hepatosplenomegaly, height and weight
* Neurodevelopmental exam (neurological exam, congenital abnormalities, dysmorphic features, current developmental level)
169
Etiology for Global Developmental Delay
* Prenatal: infection, genetic (FragX, T21), teratogen exposure, congenital hypothyroidism
* Perinatal: hypoxia, intracranial hemorrhage, meningitis/CNS infection
* Postnatal: acquired brain injury (trauma, hemorrhage, infection, malignancy), severe malnutrition, severe neglect, toxins (lead, mercury)
170
Investigations for Global Developmental Delay?
* Vision and hearing test
* EEG if suspected seizures
* Chromosomal microarray, karyotype, Fragile X DNA testing,
* Brain MRI if abnormal neuro exams, micro/macroecephalopathy – NOT GREAT
* MECP2 in girls with clinical course suggestive of Rett's Syndrome
* Metabolic screening
* Lead, CBC, blood gas, urea, creatitine, electrolytes with anion gap, ferritin, B12, TSH, CK
* OT, PT, and/or SLP assessments
171
Presentation/Definition of Speech/Language Delay?
Often identified ~18 months: one SD below mean of age from standardized language assessment - can be expressive, receptive or both
172
Etiology of Speech/Language Delay
* Intellectual disability
* Developmental disorders: cerebral palsy, autism spectrum disorder, constitutional language delay
* Constitutional language delay
* Genetic/metabolic: DS, Fragile X syndrome, Williams syndrome, hypothyroidism, PKU, etc.
* Mechanical problems: cleft palate, cranial nerve palsy, hearing impairment
* Medical condition: seizure disorder (includes acquired epileptic aphasia), CP, TORCH infection, iron deficiency, lead poisoning, etc.
* Psychosocial: neglect or abuse
* Selective mutism
* Language specific learning disorder
* Isolated language delay
173
Physical exam for Speech/Language Delay?
* Guided by history: look for abnormal growth, dysmorphisms, unusual social interactions (lack of eye contact, not pointing)
* Include full exam of the external/internal ear (e.g. TM scarring), oral pharynx (e.g. cleft palate), and neurologic system (including tone)
174
Investigations for Speech/Language Delay?
* Use of language specific screens in primary care setting: The Early Language Milestone
* Clinical Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS), Modified
* Checklist for Autism in Toddlers (M-CHAT), etc.
* Developmental evaluation
* Hearing and vision screening (audiology and optometry referral)
* CBC (to rule out anemia), venous blood lead levels, genetic/metabolic workup as indicated
175
Management of Speech/Language Delay?
* Specific to etiology
* Referrals to: SLP, Otolaryngology Head and Neck Surgery (OHNS),and dental professionals, general support services
176
Prevention of Speech/Language Delay?
Prevention: parents can read aloud to their child, engage in dialogic reading, avoid baby talk, narrate daily activities, etc.
177
What is the presentation of autism spectrum disorder?
Presentation: persistent deficits in social communication and interaction (reciprocity, nonverbal communication, relationships); typically demonstrates restricted and repetitive behaviour.
178
What are the diagnostic criteria for autism spectrum disorder?
1. Persistent deficits in social communication/interactions, ALL of: deficits in social reciprocity, nonverbal communication (abnormal eye contact, body language, gestures, lack of facial expressions), + developing relationships (difficulty with imaginative play/making friends)
2. Restricted, repetitive behaviour patterns, interests, activities 2+ of:
* repetitive speech, motor movements or object uses (stereotypies, echolalia, idiosyncratic phrases)
* excessive adherence to routines/rituals,
* restricted, fixated interests abnormal in intensity/focus
* hyper or hyporeactivity to sensory input (indifference to pain/temp, adverse response to sounds/textures, excessive smelling/touching, visual fascination with lights/movement)
179
What is included in the assessment of autism spectrum disorder?
Assessment: 1. structured developmental + medical Hx, 2. observation of social, communication + play behaviours, + 3. developmental context of language, cognitive + adaptive skills
180
Investigations for autism spectrum disorder?
Audiology, clinical microarray (CGH), fragile X molecular testing, also ferritin, TSH, CK, lead, metabolic testing (NH3, lactate, serum AA, urine OA + MPS), EEG, neuroimaging
181
Treatment for autism spectrum disorder?
* Behaviour therapy – parent training, increase functional communication
* Sleep hygiene/melatonin, educational intervention, Tx GI problems, seizures, sensory environment
182
Presentation of gross motor delay?
Not walking or running by 18m + handedness \<10m
183
What is Gower’s Sign
Gower’s Sign: crawling up knees
184
1st step in investigative approach to gross motor delay
Developmental assessment, history and physical exam
185
Upper motor neuron (spasticity, brisk reflexes, Babinski sign) are seen which investigations should be ordered?
* MRI
* Metabolic/genetic + refer
186
Lower motor neuron (weakness, hypotonia, reduced reflexes, atrophy) are seen which investigations should be ordered?
* CK, TSH, consider SMA (spinal muscular atrophy)
* Metabolic/genetic, EMG/NCS, biopsy, +/- MRI + refer
187
Clinical features of Duchenne’s Muscular Dystrophy?
* proximal muscle weakness by age 3, positive Gower's sign, waddling gait, toe walking
* pseudohypertrophy of calf muscles (muscle replaced by fat) and wasting of thigh muscles
* decreased reflexes
* non-progressive delayed motor and cognitive development (dysfunctional dystrophin in brain)
* cardiomyopathy
188
Diagnosis/Investigations of Duchenne’s Muscular Dystrophy?
* molecular genetic studies of dystrophin gene (DMD) (first line)
* family history (pedigree analysis)
* increased CK (50-100x normal) and lactate dehydrogenase
* elevated transaminases
* muscle biopsy, EMG
189
Treatment/management of Duchenne’s Muscular Dystrophy?
* supportive (e.g. physiotherapy, wheelchairs, braces); prevent obesity
* cardiac health monitoring and early intervention
* bone health monitoring and intervention (vitamin D, bisphosphonates) o steroids (e.g. prednisone or deflazacort)
* surgical (for scoliosis)
190
What is cerebral palsy?
Disorder of movement + posture due to a non-progressive lesion of the immature brain
191
Characteristics of cerebral palsy?
It is a permanent motor disorder often accompanied by epilepsy/secondary MSK problems = disturbed sensation, perception, cognition, communication, and behaviour
192
What symptoms would you likely see with cerebral palsy?
Delayed motor milestones + abnormal posture + abnormal tone + persistent primitive reflexes + abnormal DTRs
* If you see 4/6 of these symptoms, likely CP
193
What should be included in your clinical evaluation of cerebral palsy?
POSTER:
* Posture/movement patterns
* Oral motor patterns
* Strabismus
* Tone of muscles
* Evolution of postural reactions and milestones
* Reflexes (infantile, deep, and plantar)
194
What are the possible etiologies of cerebral palsy?
* Preterm: periventricular leukomalacia + intraventricular hemorrhage + hydrocephalus + intraparenchymal hemorrhage + infection
* Term: brain malformations + perinatal strokes + TORCH infection + asphyxia during birth
195
What is Peri-Ventricular Leukomalacia?
Peri-Ventricular Leukomalacia (White Matter Changes): immature oligodendroglia more vulnerable to oxidative stress from ischemia, infection, inflammation - bilateral but asymmetric damage
196
Investigations for cerebral palsy?
: MRI brain/spinal cord + CT scan + genetic/metabolic work-up + EEG + coagulopathy workup
197
What is the most common classification of cerebral palsy?
Motor Diplegic
198
What is the diplegic presentation for cerebral palsy and most likely etiology?
Lower limbs are more affected than upper limb, seen in context of periventricular white matter damage (premature infant).
199
What is the hemiplegic presentation for cerebral palsy and most likely etiology?
* Spasticity in half the body (arm/face more than leg).
* Causes: Grade 4 IVH, stroke – MCA (mouth and face region). Pre-natal etiology
200
What usually causes quadriplegia?
Acute complete or partial ischemia, meningitis, severe periventricular leukomalacia
201
What is the presentation of dyskinetic cerebral palsy and what is the etiology?
* Involuntary movement of athetosis (condition in which abnormal muscle contractions cause involuntary writhing movements), chorea, and dystonia.
* Causes are acute perinatal asphyxia and kernicterus.
202
Management of cerebral palsy?
* Stretching: can increase ROM and reduce spasticity
* Spasticity: motor disorder characterized by velocity-dependent increase in tonic stretch reflex exaggerate tendon jerks so hyperexcitable stretch reflex
* Botulinum Toxin Type A: inhibits acetylcholine release and causes axonal degeneration \> reduces spasticity for 4-6 months until regenerations occurs
* Intrathecal Baclofen Pump: to active reduce spasticity but can also take orally
* Selective dorsal rhizotomy
* Surgery: orthopedics (contractures)/neurosurgery (selective severance of nerves, interrupt reflex arcs)
* Alternative Medicine: massage, aqua-therapy, chiropractic, homeopathy, acupuncture, etc.
203
Remember to always assess ____ in cerebral palsy?
ADLS (DEATHS):
* Dressing
* Eating
* Ambulation
* Transfer
* Hygiene
* Sensation, School, and Sex
204
What is the DDx of pediatric respiratory distress?
* Upper Airway - foreign body, croup, laryngomalacia, epiglottitis, retropharyngeal abscess, choanal atresia
* Lower Airway + Pulmonary - Tracheitis, bronchiolitis, pneumonia, atelectasis, asthma, bronchospasm, respiratory distress syndrome of the neonate, tracheo-esophageal fistula, pulmonary embolus
* Neurologic disorders (e.g., drugs)
* Other (e.g., extrapulmonary restriction)
* Cardiac disorders - Congestive heart failure (left-to-right shunt, left ventricular failure), Cardiac tamponade
205
Signs and symptoms for pediatric respiratory distress?
206
Most common area for foreign body in pediatrics
Cricopharyngeal
207
What are the symptoms of cricopharyngeal foreign body?
Drooling + dysphagia + stridor
208
What is the bronchi triad Right Main Stem Bronchus: Bronchi triad:
1. unilateral wheeze, 2. cough, 3. ipsilateral diminished breath sounds)
209
What investigations should you order for foreign body?
* C-XRAY - Expiratory and inspiratory views + neck
210
What are the findings on CXRAY for foreign body?
* In expiration, your diaphragms should go back up - The foreign body prevents air from leaving
* Flatten of the diaphragm due to hyperinflation on affect side
211
Presentation/time course of foreign body?
* Initial Event: Violent paroxysm of coughing, choking, gagging and possible airway obstruction occur immediately when the foreign body is aspirated
* Asymptomatic Interval: Reflexes fatigue and irritating symptoms subside. If you still suspect FB – do a scope
212
What is croup?
Inflammation of the upper and lower respiratory tracts (subglottic laryngitis)
213
Epidemiology of croup
Common in children \<6yr + peak incidence 6-3yr + common in fall/early winter
214
Etiology of croup?
Etiology: parainfluenza (75%) + influenza A/B + RSV + adenovirus
215
Presentation of croup?
Barking cough + inspiratory stridor + resp distress + lethargy/agitation + worse at night + hoarse voice
216
Red flags of croup?
Drooling, toxic, tripoding, biphasic stridor, decrease SpO2
217
Possible investigations for croup?
CXR (if atypical presentation – usually just a clinical diagnosis)
218
CXR sign of croup
* Steeple sign from subglottic narrowing
219
Treatment of croup?
* PO dexamethasone x 1 dose. Reduces upper airway inflammation. Onset 2-3 hours and lasts 24-48 hours
* Severe – nebulized epinephrine. Reduces upper airway inflammation. Onset 10-30min and lasts 1-2 hours.
* Steroids are the mainstay of treatment but nebulized epin can buy you some time before dexamethasone kicks in
* Intubation (if unresponsive to treatment)
220
Most common cause of chronic stridor in infants?
Laryngomalacia
221
What is the pathophysiology of laryngomalacia?
Collapse of the supraglottic structures during inspiration (AKA floppy upper airway)
222
Presentation of laryngomalacia?
* Presentation – stridor
* Peaks at 4-8 months and then resolves, worse when lying on back, crying or feeding
* Severe – respiratory distress, GERD, FTT
223
What are the investigations for laryngomalacia?
Referral to ENT for bedside laryngoscopy
224
What is the management of laryngomalacia?
* Mild – Observation – will grow out of it
* Severe – supraglottoplasty
225
What is epiglottitis?
Supraglottic laryngitis
226
What is the pathophysiology of epiglottitis?
Cellulitis of the epiglottis and supraglottic structures leading to airway obstruction
227
What is the etiology of epiglottitis?
H. influenza type b – most common but declined with immunization, usually older (2-6yo)
228
What is the presentation of epiglottitis?
Toxic appearance + rapid progression + stridor + tripod position + sternal recession + anxious + fever (\>39o)
229
4 D’s of epiglottitis?
4 D’s: drooling + dysphagia + dysphonia + distress
230
Investigations for epiglottitis?
Investigations: clinical diagnosis; avoid examining throat to prevent further respiratory exacerbation
231
If an CXR were performed for epiglottitis?
Lateral Neck X-ray – The thumb sign
232
Treatment of epiglottitis?
Intubation + antibiotics (ceftriaxone) + prevented with H. Influenzae vaccine
233
What is the progression of retropharyngeal abscess/cellulitis?
Cellulitis \> phlegmon \> abscess (often polymicrobial)
234
What is the presentation of retropharyngeal abscess/cellulitis?
Young children, looks sick, torticollis/refusal to move neck, resp distress (stridor), chest pain, cervical lymphadenitis, drooling, midline or unilateral swelling of posterior pharyngeal wall
235
What are the investigations of retropharyngeal abscess/cellulitis?
Lateral neck xray (in full extension)
236
Management of retropharyngeal abscess/cellulitis?
Management: secure the airway + emergency surgical drainage (consult ENT) vs. abx for 1-2d (ampicillin, clindamycin)
237
What is TEF?
* Tracheoesophageal fistula (TEF) is a developmental abnormality and results in an abnormal connection/fistula between trachea and esophagus.
238
What is the most common type of TEF?
The most common (85% of cases) type is proximal with a blind upper esophageal pouch and a distal end connected to trachea. In these cases, abdominal x-ray shows a lot of gas in the gastrointestinal tract because of the direct connection of the fistula to the distal esophagus.
239
What is the clinical presentation of TEF?
The presence of polyhydramnios (high amniotic fluid volume) - inability of the fetus to swallow amniotic fluid, secondary to the blind ending esophagus.
Newborns present with copious clear, mucousy, frothy secretions from their nose and mouth, which recurs even when suctioned. They may also have episodes of coughing and choking associated with cyanosis. These episodes are more prominent with feeding, particularly in cases with esophageal atresia.
240
What are the associations with TEF?
VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, esophageal atresia, renal anomalies and radial aplasia, and limb anomalies)
241
Diagnosis of TEF?
Radiological findings are diagnostic. Plain x-ray film can show blind pouch of proximal atretic esophagus. The presence or absence of air in stomach depends upon type of fistula.
242
Management of TEF?
* TEF requires surgical correction with end to end anastomosis of esophageal pouches and resection of fistula.
* However, preoperatively, these infants are at high risk of aspiration from secretions pooling in the blind pouch. Continuous wall suction of the blind pouch with a vented nasogastric tube is critical to prevent this complication.
243
What is asthma?
Chronic inflammatory airway disease with episodes of bronchospasms and inflammation resulting in reversible airflow obstruction
244
What is the presentation of asthma?
* Cough, wheezing, dyspnea/SOB, chest tightness
* A diagnosis of asthma may be considered in children under 6 if they have asthma-like symptoms more than 8 days per month or more than 2 acute exacerbations.
245
What are the physical exam findings of asthma?
* Vitals: pulsus paradoxus, tachycardia, tachypnea, dyspnea, low O2 sat
* Head and Neck: Central cyanosis, accessory muscle use, supraclavicular fossa indrawing, tracheal tug (especially in children)
* Auscultate: Long forced expiratory time
* Palpation: Hoover’s sign may be positive
* Percussion: Bilateral hyperresonance
* Breath sounds: May be reduced/absent, vesicular, prolonged vesicular expiration
* Expiratory sounds: wheezes
246
What should be asked on history for asthma?
The history should focus initially on the symptoms preceding the current exacerbation, such as infectious symptoms like rhinorrhea, fever, or cough; possible precipitants, and the time of onset of exacerbation. Then, do a focused asthma history including details about previous medications; recent exacerbations; current medications, including beta-agonists; and allergies.
247
Diagnostic Criteria for asthma?
* Recurrent airflow obstruction = wheeze 2x
* Reversible airflow obstruction = response to Ventolin
* No evidence of alternative diagnosis
248
What would be seen on pulmonary function test (Spirometry) for asthma?
* Obstructive pattern with concave (decreased flow rates + increased volume) with FEV1 \<80% and FEV1/FVC \<0.70
* Give SABA: An increase in FEV1 of 12 percent or more, accompanied by an absolute increase in FEV1 of at least 200 mL
249
Possible investigations for asthma?
* O2 + CBCd + electrolytes + sputum gram stain/culture + sensitivity + blood cultures from 2 peripheral sites (if chills/rigors) + Mantoux (if high risk for TB) + ABG (if sats low) + PFT + CXR (PA + Lat)
250
What investigations/questions should be asked to gauge asthma control in initial assessment of asthma?
## Footnote
:
* Reported frequency and severity of daytime symptoms and nocturnal awakening over the previous four weeks
* Number of exacerbations requiring oral glucocorticoids in the previous year
* Current level of lung function, if able to perform this testing (FEV1 and FEV1/forced vital capacity [FVC] values, or peak expiratory flow [PEF] if spirometry not available)
251
What would be considered intermittent asthma?
* Daytime asthma symptoms occurring two or fewer days per week
* Two or fewer nocturnal awakenings per month
* Use of short-acting beta agonists (SABAs) to relieve symptoms two or fewer days per week
* No interference with normal activities between exacerbations
* FEV1 measurements between exacerbations that are consistently within the normal range (ie, ≥80 percent of predicted)
* FEV1/FVC ratio between exacerbations that is normal (based on age-adjusted values)
* One or no exacerbations requiring oral glucocorticoids per year
252
What would be considered mild persistent asthma?
* Symptoms more than twice weekly (although less than daily)
* Approximately three to four nocturnal awakenings per month due to asthma (but fewer than every week)
* Use of SABAs to relieve symptoms more than two days out of the week (but not daily)
* Minor interference with normal activities
* FEV1 measurements within normal range (≥80 percent of predicted)
253
What would be considered moderate persistent asthma?
* Daily symptoms of asthma
* Nocturnal awakenings as often as once per week
* Daily need for SABAs for symptom relief
* Some limitation in normal activity
* FEV1 ≥60 and \<80 percent of predicted and FEV1/FVC below normal
254
What would be considered severe persistent asthma?
Severe persistent asthma is manifest by the presence of asthma symptoms throughout the day, nocturnal awakening due to asthma nightly, reliever medication needed for symptoms several times/day, or activity limitation due to asthma
255
What is the management of intermittent (Step 1) asthma?
Patients with intermittent asthma have traditionally been treated with a SABA (salbutamol (100mcg), ideally with aerochamber (MDI), taken as needed for relief of symptoms. Could consider low-dose glucocorticoid and the fast-acting long-acting beta agonist (LABA).
256
What is the management of mild persistent (Step 2) asthma?
* Regular (daily) use of a low-dose inhaled glucocorticoid or a combination glucocorticoid-LABA inhaler (ADVAIR – can use in all age groups. SYMBICORT – can’t give to children \<12).
* Continue to use SABA as needed
257
What is the environmental management of asthma?
Environment Control: avoidance of out door/indoor allergens, irritants, and infections; home environment cleanliness (e.g. steam cleaning)
258
What is the management of moderate persistent (Step 3) asthma?
* For moderate persistent asthma, the preferred controller therapies are either low-doses of an inhaled glucocorticoid plus a LABA, or medium doses of an inhaled glucocorticoid.
* Addition of an inhaled long-acting muscarinic antagonist (LAMA; tiotropium) to an inhaled glucocorticoid has proven equally effective compared to the combination of an inhaled glucocorticoid and LABA
259
What is the management of severe persistent (Step 4 or 5) asthma?
For severe persistent asthma, the preferred controller treatments are medium (Step 4) or high (Step 5) doses of an inhaled glucocorticoid in combination with a LABA
260
Initial treatment of mild exacerbation of asthma?
Mild exacerbations, use a nasal cannula or face mask to ensure oxygen saturation is above 94%. Furthermore, give inhaled salbutamol 1-3 doses every 20 min.
261
Initial treatment of moderate exacerbations of asthma?
Start oral corticosteroids early, ensure O2 sat are above 94%, give inhaled salbutamol 3 doses every 20 minutes also known as ‘back-to-back’ salbutamol, and consider giving ipratropium (3 doses in 1 hr)
262
Initial treatment of severe exacerbations of asthma?
Similarly start oral corticosteroids (prednisone 40-60mg) early or consider IV steroids (methylprednisolone 125mg – if you are thinking ICU), consider giving 100% oxygen which may require a different mask, give continuous aerosolized salbutamol and back-to-back ipratropium 3 doses every 20 minutes, keep the patient NPO and consider IV magnesium sulphate (2g IV over 20m as bolus, good at dilating smooth muscles - S/E – hypotension). CALL PICU
263
What is Status Asthmaticus?
Severe condition in which asthma attacks follow one another without pause = hypoxemia + hypercarbia + secondary respiratory failure
264
What is the presentation of status asthmaticus?
Usually present a few days after the onset of a viral resp illness, following exposure to potent allergen/irritant, or after exercise in a cold environment.
265
What is the pathogenesis of status asthmaticus?
Acute asthma exacerbation that remains unresponsive to initial treatment with bronchodilators
266
What is the management of status asthmaticus?
* Oxygen: keeps oxygen saturation \>90%
* Bronchodilator: salbutamol MDI + spacer 5 puffs (\<20kg) or 10 puffs (\>20kg) q20min x3 + Atrovent (ipratropium) if severe via MDI + spacer 3 puffs or 6puffs q20min with Ventolin
* Steroids: as soon as possible after arrival, prednisone 1-2mg/kg x5d or dexamethasone (0.3mg/kg/d x5d), if severe give IV
* If Critically Ill or Not Responding: give IV bolus then infusion of MgSO4; can also give IV B2 agonist if critically ill and not responding to above
267
What is bronchiolitis?
LRTI + usually in children \<2yo with wheezing + signs of respiratory distress
268
Epideimology of bronchiolitis?
Most common LRTI in infants, affects 50% of children in the first 2 years + peak incidence at 6mo + in winter/early spring – symptom peak at day 3-4 of illness
269
270
Pathophysiology of bronchiolitis?
Swelling and mucous production - If you have tiny vessels and they swell a bit it’s very hard to get air in or out. NOT bronchospasm
271
Etiology of bronchiolitis?
RSV (\>50%) + (para)influenza + rhinovirus + adenovirus + M. Pneumoniae (rare)
272
Presentation of bronchiolitis?
First episode of wheezing in infant \<12 months. Prodrome URTI with cough + rhinorrhea + possible fever + feeding difficulties/irritability + wheezing/crackles/respiratory distress + tachypnea + tachycardia + retractions + reduced air entry
273
Investigations for bronchiolitis?
Usually none, unless you’re unsure of diagnosis; CXR (only if severe, poor response to therapy, chronic episode to see air trapping + peri-bronchial thickening + atelectasis + increased linear markings) + consider NPA Swab only if you’d consider starting Tamiflu or maybe if admitting to hospital for infection control + consider CBCd (WBC can be normal though)
274
Do children with bronchiolitis respond to Atrovent (ipratropium) or steroids?
No
275
Treatment of bronchiolitis?
* Mild-Mod Distress: supportive (PO/IV hydration, monitor urine output + antipyretics for fever + regular/humidified O2 to SpO2 \>90%)
* Severe Distress: above +/- intubation + ventilation PRN + consider Rebetol (Ribavirin) in high risk groups (bronchopulmonary dysplasia, CHD, congenital lung disease, immunodeficient)
* Monthly RSV-Ig or palivizumab (Monoclonal Ab against glycoprotein of RSV) = protective against severe disease in high risk groups, case fatality is rare
276
Indications for hospitalization with bronchiolitis?
* Hypoxia (\<92% on initial presentation)
* Persistent resting tachypnea + retractions after several salbutamol masks
* Past history of chronic lung disease + hemodynamically significant cardiac disease + neuromuscular problem + immunocompromised
* Young infants \<6mo (unless extremely mild)
* Significant feeding problems
* Social problem (inadequate level of care at home)
277
Presentation of bacterial tracheitis?
Similar symptoms as croup, but more rapid deterioration with high fever + toxic appearance + dose not respond to croup treatment
278
Investigations of bacterial tracheitis?
Clinical diagnosis + endoscopy (= definitive diagnosis)
279
Treatment of bacterial tracheitis?
Usually requires intubation + IV abx (third-generation cephalosporin (eg. cefotaxime, ceftriaxone))
280
Etiology of bacterial tracheitis?
S. aureas + H. influenzae + alpha-hemolytic strep + Pneumococcus + M. catarrhalis
281
What are the typical, school-aged and bad etiologies of pneumonia in children?
* Typical – strep pneumoniae, H influenza
* School aged – mycoplasma pneumoniae, chlamydia pneumoniae
* BAD – Group A Strep/GBS or Staph aureus
282
Presentation of pneumonia in children?
* Fever + cough + tachypnea; if bacterial, then may have fever + chills + dyspnea
* Incidence greatest in 1st year of life
* The most common cause of bacterial pneumonia is a viral infection that got better and then worse
* High persistent fevers that are getting worse
* Localized crackles – Diffuse crackles suggest more transmitted upper airway sounds - If you listen in face and neck and the crackles are worse there, probably an upper airway sound
* Decreased Air Entry
* Sepsis
283
Investigations of pneumonia in children?
SpO2, CXR (shows diffuse, streaky infiltrates bilaterally) +/- CBC + CRP (^WBC/Neuts ~ bacterial) + blood culture
284
Treatment of pneumonia in children?
* Sick: IV ampicillin or ceftriaxone
* School aged (mycoplasma pneumoniae, chlamydia pneumoniae): azithromycin/clarithromycin
* Not sick: amoxicillin PO
* Aspiration (anaerobes, E.coli): Mild: No treatment Moderate/severe: penicillin + gent (if hospital acquired)
285
What is cystic fibrosis?
Autosomal recessive + CFTR gene found on Chromosome 7 resulting in a dysfunctional chloride channel on the apical membrane of cells \>\> leads to relative dehydration of airway secretions, resulting in impaired mucociliary transport and airway obstruction
286
What is the presentation of cystic fibrosis in the neonate?
Meconium ileus + prolonged jaundice + antenatal bowel perforation
287
288
What is the presentation of cystic fibrosis in the infant?
Pancreatic insufficiency with steatorrhea and FTT (despite voracious appetite) + anemia + hypoproteinemia + hyponatremia
289
What is the presentation of cystic fibrosis in the child?
Heat intolerance + wheezing or chronic cough + recurrent chest infections (S. aureus, P. aeruginosa, H. influenzae) + hemoptysis + nasal polyps + distal intestinal obstruction syndrome + rectal prolapse + clubbing
290
What is the presentation of cystic fibrosis in the older child?
Older: COPD + infertility (males) + decreased fertility (females)
291
Investigations for cystic fibrosis?
Newborn screen (immunoreactive trypsinogen), sweat chloride test (x2)
292
Management of cystic fibrosis?
* genetic counselling +
* Nutritional Counseling: high calorie diet + pancreatic enzyme replacements + fat soluble vit supplements (ADEK)
* Chest Disease: physiotherapy + postural drainage + exercise + bronchodilators + aerosolized DNAse + inhaled hypertonic saline + antibiotics + lung transplant
293
Complications of cystic fibrosis?
Complications: respiratory failure + pneumothorax (poor prognostic sign) + cor pulmonale (late) + pancreatic fibrosis with DM + gallstones + cirrhosis with portal HTN + infertility (male) + early death (median survival 46.6yr)
294
Presentation (including 4 Key Features) of congestive heart failure in children?
Tachycardia + tachypnea + cardiomegaly + hepatosplenomegaly; can also get FTT + alterations in peripheral pulses
295
What is the etiology of chronic congestive heart failure in children?
Chronic: Congenital Heart Disease – ductal-dependent lesion (e.g. critical aortic stenosis), or decompensated L -\> R shunt (e.g. large VSD)
296
What is the etiology of acute congestive heart failure in children?
* Myocarditis - most commonly viral infection (may have viral URTI symptoms at presentations)
* Cardiomyopathy
297
What are the investigations for congestive heart failure in children?
* CXR (cardiomegaly/pulmonary venous congestion) + ECG (sinus tachycardia + signs of underlying cause) + ECHO(structural/functional assessment)
* Labs: CBC + lytes + BUN/Cr + liver panel
298
What are the non-pharmacological and pharmacological treatments for congestive heart failure in children?
* Non-Pharmacological: sit-up + oxygen + salt/water restriction + increased caloric intake
* Pharmacological: diuretics + afterload reduction + B-blockers + correct underlying cause!
299
What is pertussis?
Prolonged respiratory illness characterized by paroxysmal coughing and inspiratory “whoop”
300
What is the etiology of pertussis?
Bordetella Pertussis (gram NEG pleomorphic rod); HIGHLY contagious – transmitted via respiratory droplets released during intense coughing
301
What are the sx of pertussis in the prodromal catarrhal stage (1-7d)?
URTI sx (coryza, mild cough, sneezing) + no/LOW GRADE fever
302
What are the sx of pertussis in the paroxysmal stage (4-6wks)?
* paroxysms of cough, sometimes followed by inspiratory whoop (cough)
* Infants: \<6mo may present with post-tussive apnea, whoop is often absent
* Onset of attacks are precipitated by yawning, sneezing, eating, physical exertion
* +/- post-tussive emesis, may become cyanotic whoop
303
What are the sx of pertussis in the convalescent stage (1-2wks)?
Occasional paroxysms of cough, but decreased frequency and severity, NON-infectious but cough may last up to 6-months
304
What are the investigations of pertussis?
NP swab (gold standard) + CBCd (lymphocytosis, serology for Ab against B. Pertussis)
305
What are the indication for hospitalization for pertussis?
Indication for Hospitalization: coughs associated with cyanosis +/- apnea \> give O2
306
What are the abx indications for pertussis and which antibiotic?
* B. Pertussis isolated or symptoms persist for \>21d
* Macrolides: azithro/erythro/clarithro)
307
What is the prophylaxis for pertussis?
Macrolide antibiotics for all household contacts + prevention with vaccine in infants/children (pentacle) and booster in adolescent (Adacel)
308
What is defined as hypertension in children?
sBP or dBP =\> 95%ile for sex/age/height on =\> 3 occasions
309
What is normal BP in children?
Normal BP is defined as less than the 90th percentile for age, gender and height.
310
What is high-normal blood pressure in children?
High-normal blood pressure is between the 90th and 95th percentile.
311
What is stage 1 hypertension in children?
Stage 1 hypertension is from the 95th to 99th percentile plus 5 mmHg.
312
What is stage 2 hypertension in children?
Stage 2 hypertension is above the 99th percentile plus 5 mmHg.
313
What are the risk factors for primary HTN in children?
Male + FHx + obesity + OSA + African American + prematurity/LBW + Kawasaki’s + diabetes + CKD + nephrotic syndrome + solid organ transplant
314
An important risk factor for renal artery stenosis is a history of an _______ as a neonate
umbilical artery catheter
315
What is pheochromocytoma classical present as?
Classically presents with palpitations, headaches, diaphoresis and hypertension
316
The easiest way to rule out a pheochromocytoma is to test for \_\_\_\_
urine catecholamines
317
\_\_\_\_\_ classically presents with an irregular respiratory rate, bradycardia and hypertension, otherwise known as Cushing’s triad
Elevated intracranial pressure, or ICP
318
What symptoms would make you concerned for HTN emergency?
HTN Emergency: headache + seizure + focal complaints + change in mental status + visual disturbances + MI/HF symptoms (chest pain, palpitations, cough, SOB)
319
What are the possible S/S of hypertension in children?
Weight gain (steroids, Cushing’s, weight loss ~ pheo) + infectious (B symptoms, pallor, sweat ~ pheo) + weakness/constipation (hyperaldosterone/decreased potassium) + GU (dysuria, frequency, mass, dark urine) + MSK (joint pain, swelling, facial/peripheral edema ~ collagen/vascular/renal disease) + external (Buffalo hump, acne, malar rash, hirsutism, or café au lait spots in neurofibromatosis)
320
What should be done on physical exam for hypertension in children?
* BP measurement (use the right cuff size, if too small \> overestimates) + growth charting + BMI + dysmorphic features (neurofibromatosis type I, Marfan’s and Turner syndrome) Cushing’s, Virilization) + Vitals (2-3 readings of BP)
* Cardiac: palpate pulses in all extremities and check for delay, palpate for apex beat displacement (LV hypertrophy)
* External: examine for ambiguous genitalia (congenital adrenal hyperplasia)
* Signs of 2o HTN: edema (renal disease) + abdominal/renal bruit (RAS) + differential 4 limb BP/diminished femoral pulses (coarctation) + abdo mass (Wilm’s, Neuroblastoma) + goiter/skin changes (hypothyroidism)
* Skin: Rashes or skin lesions, such as Cafe-au-lait spots in neurofibromatosis or Ash leaf spots in tuberous sclerosis
* Look for Signs of HTN Emergency: full neuro exam + fundoscopy (papilledema, retinal hemorrhage, AV nicking, cotton wool spot) + precordial exam
321
What is the etiology of secondary HTN in children?
* Renal:
* Renovascular diseases - renal artery stenosis usually from neurofibromatosis type 1
* Renal parenchymal diseases – glomerular or tubular dysfunction. An important cause is reflux nephropathy where children with severe vesicoureteral reflux get renal scarring.
* Anatomic malformations - polycystic kidney diseases and renal tumours (Wilm’s)
* Cardiac: Coarctation of the aorta
* Endocrine:
* Pheochromocytoma
* Hypercalcemia and hyperthyroidism can also cause hypertension, so check electrolytes and TSH in the initial work-up.
* Primary hyperaldosteronism, congenital adrenal hyperplasia and Cushing syndrome.
* Neurologic: Elevated intracranial pressure, or ICP
* Medications: steroids
322
Investigations to target organ damage for HTN in children?
Echo (include measurements of left ventricular mass index (LVMI), systolic and diastolic left ventricular function, and evaluation of the aortic arch) + retinal examination + ACR
323
Routine investigations for all children with HTN?
urinalysis (hema/proteinuria if renal disease or nitrites/leukocytes if UTI – urine culture) + CBC/Cr/BUN/lytes/extended lytes + renal U/S with doppler (assess kidney size, location, echogenicity, renal artery flow) + TSH/T4
Cardiovascular risk: fasting blood glucose + lipid panel
324
Non-pharmacological treatment of HTN in children?
Modify cardiovascular risk factors (weight reduction \<85th percentile BMI, exercise, salt restriction)
325
Pharmacologic therapy should be initiated when children with HTN have:
* Symptomatic hypertension;
* Hypertensive target organ damage;
* Stage 2 hypertension; BP is at or greater than the 90th percentile associated with diabetes mellitus type 1 or 2, chronic kidney disease, or heart failure;
* Stage 1 hypertension without target organ damage that persists (\> 6 months) despite a trial of non-pharmacologic therapy
326
What are the recommended monotherapy meds for children with HTN?
* An angiotensin-converting enzyme (ACE) inhibitor;
* An angiotensin receptor blocker (ARB); or
* A long-acting dihydropyridine calcium channel blocker
* An alternate option is a b-blocker (Grade D) although they are less preferable because of the side effect profile in children.
327
If BP goals are not achieved with standard-dose monotherapy for \> 6 months, children should be \_\_\_\_\_\_\_\_
Referred to an expert in pediatric hypertension
328
ACE inhibitors and ARBs are not recommended as first-line agents in
Black patients
329
B- blockers are not recommended as first-line agents in children with \_\_\_\_\_\_
Asthma, diabetes (type 1 or type 2), or in high- performance athletes.
330
Treatment of HTN emergency in children?
Hydralazine + labetalol + sodium nitroprusside
331
Most common primary renal cancer of childhood. Usually diagnosed 2-5y
Nephroblastoma (Wilm’s tumor)
332
What is the DDx for abdominal masses in children?
* Renal
* Nephroblastoma (Wilm’s tumor)
* Hydronephrosis
* Polycystic Kidney Disease
* AdrenalNeuroblastoma
* Hamartoma
333
What is the presentation of nephroblastoma (Wilm’s tumor)?
Asymptomatic unilateral abdominal mass +/- HTN, hematuria, abdo pain, vomiting, pulmonary symptoms from mets, associated congenital abnormalities (genital anomalies, mental retardation)
334
What is the management of nephroblastoma (Wilm’s tumor)?
Mgmt: staging and nephrectomy +/- chemo and radiation; Prognosis good as 90% survive
335
Most common cancer in first year of life?
Neuroblastoma
336
What is the pathophysiology of neuroblastoma?
Neural crest tumor from sympathetic neuroblast tissue
337
What is the presentation of neuroblastoma?
* Presentation: Mass in neck, chest, abdomen (adrenal gland most common site) tumor can originate from any site in nervous system
* Thoracic: dyspnea + Horner’s
* Abdo: palpable mass
* Could see spinal cord compression
338
What is the management of neuroblastoma?
Management: surgery, radiation, chemo, autologous stem cell transplant, immunotherapy
339
Management of hydronephrosis?
Unilateral hydronephrosis \>4 mm in second trimester, a follow-up US scan in third trimester is performed, Persistent hydronephrosis \>10 mm require postnatal evaluation
340
Presentation of polycystic kidney disease?
Progressive renal failure, hypertension, urinary tract infection, concentrating defects, hematuria, nephrolithiasis, flank pain
341
Management of polycystic kidney disease?
BP control with ACE inhibitors, Dietary sodium restrictions, Statins, Vasopressin receptor antagonists
342
What is the presentation of hamartoma?
Asymptomatic abdominal swelling, Abdominal pain (30-40%), Hematuria (12-25%), Fever and hypertension (25%)
343
What is the definition of pediatric constipation?
Definition: Decrease in frequency and fluidity (\<3 per week, hard and pellet like)
344
Rome III criteria for functional constipation?
\>2 of the following for at least 1 mo:
* \<2 defecations/wk
* history of excessive stool retention
* history of large-diameter stools
* history of painful or hard bowel movements
345
What is functional constipation?
99% of cases - does not have an anatomical or physiological cause, yet the child experiences distressing infrequent passage of uncomfortable and hard stools
346
Pathophysiology of functional constipation in children?
Pathophysiology: lack of fiber, diet change, poor fluid intake, behaviour
* Infants: often occurs when introducing cow's milk after breast milk due to high fat and solute content, lower water content
* Toddlers/older children: can occur during toilet training, or due to pain on defecation, leading to withholding of stool
347
Physical exam for functional constipation in children?
Dilated rectal vault, soiled underwear, fecal impaction and palpable fecal mass in the left lower quadrant. Otherwise the physical exam is normal. Look for imperforate anus or stenosis, spina bifida, developmental delay, cerebral palsy
348
Dietary causes of constipation in children?
Lack of fiber and increased consumption of processed foods.
349
What is the management of functional constipation in children?
Education, PEG 3350 1-1.5g/kg/d + fluids and fiber + toilet training technique treat for 6+ months until regular BMs without difficulty
350
What is Hirschsprung disease?
Caused by the failure of ganglion cells to migrate into the distal bowel resulting in the affected segment of colon failing to relax and causing a functional obstruction.
351
What is the presentation of Hirschsprung disease?
Presentation: Failure to pass meconium within the first 24 hours of life, abdominal distension, an empty rectum, vomiting and occasional fever.
352
What are the investigations for Hirschsprung disease?
* Rectal biopsy (gold standard) – look for aganglionosis and neural hypertrophy
* AXR - Dilated loops of bowel may be seen on abdominal x-ray proximal to the aganglionic segment.
* Contrast enema to find narrow rectum and transition zone
353
What is the treatment of Hirschsprung disease?
Duhamel pull-through procedure: surgical resection of aganglionic intestinal segment and anastomosis of remaining intestine to anus
354
Examples of anorectal and colonic malformations?
Examples include anal stenosis, anteriorly displaced anus, imperforate anus, and colonic strictures.
355
What is the DDx for pediatric constipation?
* Functional constipation:
* Dietary: Lack of fiber and increased consumption of processed foods.
* Hirschsprung disease
* Anorectal and colonic malformations: Anal stenosis, anteriorly displaced anus, imperforate anus, and colonic strictures.
* Multisystem disease:
* Cystic fibrosis (CF)
* Hypothyroidism:
* Celiac disease
* Developmental delay
* Muscular dystrophy
* Diabetes mellitus
* Spinal cord abnormalities: meningomyelocele, tethered cord, and sacral teratoma.
* Drugs/Toxins
* Lead poisoning
* Infantile botulism
* Narcotics
* Psychotropics
356
\_\_\_\_\_\_ is pathognomic of CF
Meconium ileus
357
Presenting symptoms include failure to thrive, recurrent pulmonary infections, pancreatic insufficiency and elevated sweat chloride levels.
Cystic fibrosis (CF)
358
Symptoms include constipation, lethargy, macroglossia, cold intolerance, dry skin, brittle hair prolonged jaundice, short stature and facial puffiness. A thyroid goiter may sometimes be palpable
Hypothyroidism
359
Presentation of lead poisoning?
Sporadic vomiting, abdominal pain and constipation at levels as low as 2.90 micromoles/L
360
Presentation of fnfantile botulism?
The presentation varies including constipation, weakness, feeding difficulties, anorexia, global hypotonia and drooling.
361
What should be performed on physical exam for pediatric constipation?
* General appearance: Failing to thrive
* Abdominal exam: perianal area looking for sensory and motor deficits, a patent anus, and an absent cremasteric reflex. Examining the sacrococcygeal area for hair tufts is also important as they are associated with spinal cord abnormalities.
* DRE: A distended rectum, full of stool is indicative of functional constipation whereas a tight, empty rectum with failure to thrive points more towards Hirschsprungs disease.
362
Investigations for pediatric constipation?
* Fecal occult blood testing
* Urinalysis and urine culture
* CBC and differential - to look for anemia.
* Thyroid stimulating hormone (TSH) and thryoxine (T4) levels
* Lead level - important if the child is at risk for lead poisoning.
* Calcium and electrolyte levels
* Plain abdominal film - to visualize retained stool.
* Barium enema - useful to investigate for structural causes of constipation and Hirschsrpung's disease (may see aganglionic segment of bowel).
* MRI of the lumbosacral spine - to look for tethered cord and tumors in children with non-resolving constipation or clinical signs of spinal abnormalities.
* Anorectal manometry - to measure the neuromuscular function of the anorectum; this investigation is important if you are suspecting Hirschsprung's disease.
363
What is acute pediatric diarrhea?
Acute: \<2 weeks
364
What is chronic pediatric diarrhea?
Chronic: \>2 weeks of \>10mg/kg/d + change in fluidity/frequency (vs \>200mg/d x 4 weeks in adults)
365
What is the ddx for pediatric diarrhea?
* Infectious (gastroenteritis) – most common cause
* Extra-Intestinal Infections: pneumonia + viral URTI + otitis media + UTI
* Serious Infections: sepsis + meningitis + C. Difficile
* Drug/toxin induced (fluoroquinolones + clindamycin + penicillin + cephalosporins)
* Mechanical/surgical - Intussusception
* Disorders of malabsorption: Lactase deficiency, Cystic fibrosis, Celiac disease
* Inflammatory bowel disease
* First presentation of chronic diarrhea
366
What is the most common cause of pediatric diarrhea?
Infectious (gastroenteritis)
367
What is the DDx of bloody pediatric diarrhea?
* Bacterial - (SEECCSY) – salmonella, e.coli, campylobacter, C.Dif, shigella, Yersinia
* Parasitic – entamoeba
* Hemolytic Uremic Syndrome
368
What is the DDx of non-bloody pediatric diarrhea?
Rotavirus (most common, osmotic, get VACCINE!), norovirus
369
What should be asked on history for pediatric diarrhea?
* GI: #BM/d compared to normal pattern + if loose interrupted by normal + quality (any pus, fat, foul smell) + nocturnal symptoms + tenesmus + systemic features (fever, vomiting, change to urine output, pain)
* ROS: fevers + lethargy + abdo pain + muscle/joint pain + rash/oral ulcers + sleep/activity changes
* Other: changes + medication + travel + sick contacts + recent Abx use
* FHx/PHx (Autoimmune) ~ Chronic: T1DM + hyperthyroid + celiac + IBD + CF + atopy + food allergy
370
What are the red flags for pediatric diarrhea?
RED FLAGS: blood + fever + petechiae/purpura + signs of severe dehydration + weight loss/FTT + age \<3 months (more likely congenital than infectious)
371
372
Physical exam for pediatric diarrhea?
* Height + weight to screen for FTT (\<3rd percentile + losing weight + crossing 2 or more growth lines)
* General appearance
* Nutrition status + dehydration
* Gross neurological
* EXT: eye/oral mucosa + joint changes + rash
* ABDO: distension + tenderness + mass + organomegaly + rectum/perineum exam for fissure/fistula/abscess
373
Work up for pediatric diarrhea if well and hydrated with no risk factors?
No investigations needed
374
Work up for acute pediatric diarrhea?
* Lytes, creatinine/Ur (AKI), BUN, VBG (how acidotic), +/- CBCd, smear, LDH, haptoglobin, bilirubin, retics, urinalysis/blood culture (if indicated)
* Only if Bloody: C&S + O&P
* If Recent Abx Use or Hospital Stay or Exposures: add C. Difficile Toxin; not recommended if \<1 year (can colonize but doesn’t typically cause disease)
375
Work up for chronic pediatric diarrhea?
* Chronic: CBCd + Lytes + Cr/Ur + CRP/ESR + Albumin/Iron Studies/B12/Folate (assess for nutritional status) + C&S + O&P + C. Difficile Toxin + Fecal Leukocytes + Fecal Calprotectin + urinalysis/blood culture/anti-TTG/IgA (if indicated)
* Next Step: sweat chloride + 72h stool collection for fat + stool lytes + osmolality + H2 breath test
* Next Step: endoscopy + small bowel biopsy + sigmoid/colonoscopy with biopsy + imaging
* Next Step: hormonal studies + VIP + gastrin + secretin + 5-hydoxyindoleacetic assay
* Imaging: U/S + CXR + CT if indicated
376
What is the acute management of pediatric diarrhea?
* Rehydration (oral if mid-mod or IV bolus crystalloid if severe); most cases self-limiting, bacterial doesn’t need abx (can ^risk of HUS) + antidiarrhea agents not recommended (risk of ileus/toxic megacolon)
* Zofran – good for diarrhea + vomiting
* C. Difficile: treat with PO vancomycin
377
Indications of IV Rehydration
Shock, Dehydration with altered LOC or severe acidosis, Worsening of dehydration or lack of improvement despite oral or enteral rehydration therapy, Persistent vomiting that compromises oral or NG tube hydration, Severe abdominal distention and ileus
378
How is gastroenteritis diagnosed?
Clinical diagnosis
379
What is the presentation of gastroenteritis?
Acute onset of loose/watery stools, sick contacts, fever, often vomiting starts first, diarrhea comes next. After a couple of days, diarrhea typically becomes the most pronounced symptom. Dehydration most related to vomiting - A peds patient is more likely to get dehydrated from vomiting than diarrhea. Crampy pain usually precede bowel movements
380
Management of gastroenteritis?
Hydration, hydration, hydration. Oral vs IV +/- ondansetron for viral; avoid abx even in bacterial unless severe
381
What is Cow’s Milk Protein Allergy?
Non-IgE mediated allergy to milk proteins causing proctocolitis
382
What is the presentation of Cow’s Milk Protein Allergy?
2-8-month-old with dose-dependent proctocolitis (mild diarrhea, small amounts of dark blood in stool) +/- vomiting, anemia, hypoalbuminemia – gross blood in stool + pus on microscopy + colitis on biopsy
383
Management of Cow’s Milk Protein Allergy?
* Stop milk temporarily and re-introduce at 6-8 months of age
* If Formula Fed: use casein hydrolysate formula
* If Breast Fed: mother should avoid diary, soy, wheat, and eggs when starting solids - delay introduction of meats, eggs, wheat, and nuts
384
Most common cause of chronic diarrhea during infancy and goes away spontaneously between 2-4yo
Toddler’s Diarrhea
385
What is Toddler’s diarrhea?
Excess juice intake = disaccharide malabsorption
386
What is the presentation of toddler's diarrhea?
Otherwise well appearing child usually 3-36m, frequently large volume stools with undigested food + diaper rash. Child should be growing normally!
387
Management of toddler's diarrhea?
Diagnosis of exclusion - reassurance + fiber + normal fluids + increase fat in diet + discourage excess juice
388
What is celiac disease?
Immune mediated enteropathy – gluten triggers production of autoimmune antibodies = damage mostly proximal SI mucosa, affecting iron,Ca, and folic acid absorption – often have FHx of autoimmune disorders
389
What is the presentation of celiac disease?
Young child with FTT + abdo pain + distention + non-bloody diarrhea +/- muscle wasting + microcytic anemia + rickets + dermatitis herpetiformis (\*occult presentation = short stature + delayed puberty + infertility + IBS)
390
What are the investigations for celiac disease?
Anti-TTG + IgA (not false negative if already limited gluten in diet or low IgA) + endoscopic biopsy (showing villous atrophy/elongated crypts)
391
What is the management of celiac disease?
Gluten free diet (avoid BROW – barley + rye + oats + wheat) + supplement iron/Ca/B12; note, some develop secondary lactose intolerance. Refer to dietician
392
What is hemolytic uremic syndrome (HUS)?
Complication of bacterial gastroenteritis, usually caused by STEC (Shiga Toxin producing E. Coli – 0157:H7) where the bacteria attaches to the intestinal wall and releases shiga toxin which attacks endothelial cells = thrombi obstructing small vessels
393
Presentation of HUS?
Bloody diarrhea, usually in kids \<5; TRIAD of thrombocytopenia + AKI + MAHA +/- petechiae, rash, pallor, jaundice, HTN, edema
394
Investigations of HUS?
CBCd + Cr/Ur + peripheral smear (see schistocytes) + hemolytic work-up
395
Management of HUS?
Medical emergency, get IV fluids +/- RBC transfusion. May refer to nephrology
396
What is the presentation of Crohn's
Large volume watery diarrhea + colic pain + fever + palpable RLQ mass + weight loss/FTT + fistulas/fissures + abscess
397
What are the extra-intestinal manifestations of Crohn's?
* Derm: erythema nodosum + pyoderma gangrenosum, perianal skin tags + oral lesions + psoriasis + stomatitis
* Rheum: arthritis + ankylosing spondylitis + sacroilitis
* Other: ocular + hepatobiliary + urologic + vitamin deficiencies + thromboembolism
398
What are the investigations of Crohn's?
Colonoscopy + biopsy (for diagnosis, see segmental inflammation, ‘skip lesions’ that are patchy with the cobblestoning/granulomas)
399
What are the features of Crohn's and in what age group?
Transmural most commonly ileocecal and rectal sparing with skip lesions + gum-to-bum + often \<30yo and \>60yo + cobblestone appearance + granulomas
400
What is the management of Crohn's?
Induce remission (steroids + abx + immunosuppressive agents + methotrexate + infliximab) + maintenance with immunosuppressive like methotrexate/infliximab +/- surgery (bowel resections)
401
What are the features of UC?
Isolated to large bowel – always involves rectum then progresses proximally, mucosal
402
What is the presentation of UC?
Usually chronic bloody diarrhea, abdominal cramping, urgency, tenesmus, incontinence, mild fever, tachycardia, dehydration, anemia
403
What are the investigations for UC?
Colonoscopy (colitis begins in rectum + ascends) + biopsy (shows inflamm confined to mucosa, distorted and branched crypts, abscesses crypts and plasma cells at base of crypt! Infectious colitis would have straight crypts)
* Always exclude infectious colitis → send stool for C + S, C.diff, O + P
* AXR leadpipe colon, thumbprinting CT – inflammation.
404
What is the management of UC?
5-ASA (mesalamine) + corticosteroids +/- immunosuppressive agents + colectomy (curative)
405
What is Failure to Thrive (FTT)?
A physical sign of malnutrition, not a syndrome or a diagnosis; decreased weight gain/growth velocity
406
What is the definition for Failure to Thrive (FTT)?
* \<3 percentile weight on more than one occasion
* Crossing two major percentiles on growth chart
* Weight for height/length falls below the 3rd percentile
407
What are the pathophysiologic categories for Failure to Thrive (FTT)?
* Inadequate caloric intake (most common reason)
* Inadequate absorption
* Increased metabolism
* Defective utilization
408
What is the DDx of inadequate caloric intake for FTT?
* Incorrect preparation of formula (too diluted, too concentrated)
* Unsuitable feeding habits (food fads, excessive juice)
* Behavior problems affecting eating
* Poverty and food shortages
* Neglect
* Disturbed parent-child relationship
* Mechanical feeding difficulties (oromotor dysfunction, congenital anomalies, central nervous system damage, severe reflux)
409
What is the DDx of inadequate absorption for FTT?
* Celiac disease
* Cystic fibrosis
* Cow's milk protein allergy
* Vitamin or mineral deficiencies (acrodermatitis enteropathica, scurvy)
* Biliary atresia or liver disease
* Necrotizing enterocolitis or short-gut syndrome
410
What is the DDx of increased metabolism for FTT?
* Hyperthyroidism
* Chronic infection (human immunodeficiency virus or other immunodeficiency, malignancy, renal disease)
* Hypoxemia (congenital heart defects, chronic lung disease)
411
What is the DDx of defective utilization for FTT?
* Genetic abnormalities (trisomies 21, 18, and 13)
* Congenital infections
* Metabolic disorders (storage diseases, amino acid disorders)
412
Babies should have \_\_\_wet diapers a day. If they are not getting adequate amounts of breast milk you'll see _____ in the diaper
5-6
Uric acid crystals
413
What should be asked on history for FTT?
Diet: formula vs. breast fed + vomiting or reflux + difficulty breathing/interfering with feeding
* If Formula Fed: type + how it’s mixed + difficulties with finances + how often + if waking to feed
* If Breast Fed: how often + how is milk supply + top-ups required + latch + if waking to feed
Past and current medical history
* Birth history–complications, small for gestational age, prematurity
* Recent acute illnesses–otitis media, gastroenteritis, recurrent viral infections
* Chronic medical conditions–anemia, asthma, congenital heart disease
* Past hospitalizations, injuries, accidents
* Vomiting, reflux, or other gastrointestinal symptoms
Stooling/Voiding: #wet diapers + stooling history + diarrhea + gluten introduction + urine output/changes
Social history - neglect
Family history
Mental illness
414
Length \>50%ile for FTT usually rules out \_\_\_\_\_?
endocrine disorder
415
What should be done on physical exam for FTT?
* Look at fat stores on buttocks + thighs + neck in infants
* Examine for Signs of Neglect: flat head + poor hygiene + bruises + abrasions
* Examine for: dysmorphic features + neuro signs + cardiac/pulmonary/GI exam + head-to-toe for EIMs
416
What investigations should be ordered for FTT?
Clinical diagnosis, can consider:
CBCd + lytes + Cr/Ur + urinalysis + liver panel + smear + stool panel + TSH + Growth Hormone + HIV/TB + swallowing study + bone age XR
417
What investigations should be ordered if chronic illness for FTT?
Chronic Illness: respiratory (CXR, sweat chloride) + cardiac (CXR, ECG, Echo) + GI (anti-TTG/IgA, inflammatory markers, malabsorption) + renal (UA) + liver (enzymes, albumin, PT/INR)
418
What is the management of FTT?
* Three-day food diary
* High-calorie diet: Need 150 percent of their recommended daily caloric intake, based on their expected, not actual, weight. Total Intake: 100kcal/kg/day, need 100-200mL/kg/d formula/breast milk
* Feed or Eating Behaviour: Parents should encourage, but not force, their child to eat. Meals should be pleasant, regularly scheduled, and not rushed. It often helps if the parents eat with the child
* Hospitalization: Hospitalization is rarely required, and most children with FTT are managed as outpatients
* Vigilant follow-up (monthly)
* Referral: physicians, nurses, dietitians, social workers, and psychologists
419
Endocrinological causes for FTT?
* GH Deficiency: congenital or acquired or associated with other pituitary hormone deficiencies - growth deceleration usually starts after age 1 + also see young facial appearance
* Hypothyroidism: look for other thyroid symptoms
* Cushing’s: glucocorticoid excess = excess weight gain - in children usually from high dose corticosteroids (asthma) rather than endogenous disease
420
Endocrinological causes of FTT would result in _____ weight for height ratio
Increased
421
What are the 3 core symptoms of ADHD?
Symptom complex with three core symptoms - inattention, hyperactivity, impulsivity
422
What is the pathophysiology of ADHD?
Decreased catecholamine transmission \> low prefrontal cortex activity
423
Diagnosis (DSM-5 Criteria) for ADHD?
* At least 6+ inattentive symptoms
and/or
* At least six hyperactivity/impulsivity symptoms \*Only 5 symptoms required when patient is age 17 years or older
* Symptoms more than 6 months and present in two or more settings (e.g., home, school, work).
* Symptoms interfere with or reduce quality of social/academic/occupational functioning.
* Onset prior to age 12, but can be diagnosed retrospectively in adulthood.
* Symptoms not due to another mental disorder.
424
Is ADHD more common in males or females?
Males \> females with 2:1 ratio.
425
What ADHD type do females typically have?
Females present more often with inattentive symptoms
426
What are possible etiologies for ADHD?
* Genetic factors: Increased rate in first-degree relatives of affected individuals.
* Environmental factors: Low birth weight, smoking during pregnancy, childhood abuse/neglect, neurotoxin/alcohol exposure.
427
Common comorbidities of ADHD?
* Psychiatric: ODD, CD, tics, anxiety, smoking and substance use
* Developmental: speech and language delays, learning disability (dyslexia, math, etc.), developmental coordination disorder or motor delays, autism spectrum disorder
* Medical: epilepsy, NICU/prematurity
428
DDx of ADHD?
Neurologic (absence epilepsy) + sleep disorder (OSA, too much screen time) + sensory impairment (hearing or vision impairment) + medical conditions causing fatigue or pain + syndromes with ID + psychosocial issues
429
What should be asked on histroy for ADHD?
* Behavioral history from 2+ sources, educational history including academic achievement
* BIND: pregnancy planned or not and then how far along they were when they found out they were pregnant + maternal health + exposures (EtOH, prescription meds, marijuana, smoking, other drugs)
* Delivery: method + GA + BW + asphyxia + complications + any NICU
* PMHx: medical illnesses + injuries/head trauma + neuro conditions + vision/hearing concerns + growth/nutrition + sleep disorders
* Developmental History: in all 5 domains
* FHx/SHx: who is in the household + their age/health/education/employment + family stressors + supports/services received + disease + consanguinity + ethnicity
430
What should be done on physical examination for a child with ADHD?
* Growth parameters + vitals
* HEENT: dysmorphic features + eyes/ears for vision and hearing + airway for OSA
* Precordial: signs of chronic illness, check for cardiac risk factors
* MSK: any minor anomalies
* GU: Tanner staging
* Neuro: CNS + DTRs + clonus/rigidity/Babinski + motor strength/tone/asymmetry + sensation + cerebellar signs + Romberg + gait/stressed gaits
* Checklists/Questionnaires: Vanderbilt or SNAP questionnaire for parent and teacher based on the DSM
431
What are good adjuncts to the management of ADHD?
Adjuncts: healthy diet + exercise + good sleep hygiene
432
What can be done in terms of school management for children with ADHD?
Young children - preferential classroom breaks, movement breaks, instructions need to be clear and short, use visuals to support schedules, rules, limit homework
Older children – 2 sets of textbooks (home and school), use of a planner, increased home-school communication, explicit teaching of study skills, mentors who the student relates to, have hobbies
433
What are the first line (long acting) stimulants for ADHD?
ABCV is a handy mnemonic for the first line (long acting) stimulants for ADHD: Adderall XR, Biphentin, Concerta and Vyvanse
434
What are the short acting psychostimulants used in the treatment of ADHD?
Methylphenidate - Ritalin – very short half life
Amphetamine-based – Dexedrine (short-acting)
435
What is the 2nd line choice of psychostimulant for ADHD?
Atomoxetine - SNRI - good for anxiety and ADHD. Can be used as adjunctive
436
What are the side effects of psychostimulant drugs?
S/E – insomnia, anorexia/weight loss (provide during meals), nausea, headache, tics, mood liability when meds wear off
Lower adult height by 1inch
Cardiac – increased HR and BP, no notable QTc change
437
What is the definition of a learning disorder?
It is characterized by persistent difficulty learning academic skills in reading, written expression, or mathematics, beginning in early childhood, that is inconsistent with the overall intellectual ability of a child
438
What is the DSM criteria for learning disorder?
Difficulties learning and using academic skills, as indicated by the presence of at least one of the following symptoms that have persisted for at least 6 months, despite the provision of interventions that target those difficulties:
* Inaccurate or slow and effortful word reading
* Difficulty understanding the meaning of what is read
* Difficulties with spelling
* Difficulties with written expression
* Difficulties mastering number sense, number facts, or calculation
* Difficulties with mathematical reasoning
The affected academic skills are substantially and quantifiably below those expected for the individual's chronological age, and cause significant interference with academic or occupational performance, or with activities of daily living, as confirmed by individually administered standardized achievement measures and comprehensive clinical assessment. For individuals age 17 years and older, a documented history of impairing learning difficulties may be substituted for the standardized assessment.
The learning difficulties begin during school-age years but may not become fully manifest until the demands for those affected academic skills exceed the individual's limited capacities (e.g., as in timed tests, reading or writing lengthy complex reports for a tight deadline, excessively heavy academic loads).
The learning difficulties are not better accounted for by intellectual disabilities, uncorrected visual or auditory acuity, other mental or neurological disorders, psychosocial adversity, lack of proficiency in the language of academic instruction, or inadequate educational instruction.
439
What is the etiology of learning disorders?
* Environmental factors: Increased risk with prematurity, very low birth weight, and prenatal nicotine exposure.
* Genetic factors: Increased risk in first-degree relatives of affected individuals.
440
Differential diagnosis of Learning Problems?
* Sensory Impairment: vision, hearing RULE THIS OUT
* Fatigue: sleep apnea, hypothyroidism, medication side effects
* Inattention: poor nutrition, lead exposure, iron deficiency, substance abuse, mood disorder
* Pain or Discomfort: environmental allergies, eczema, any chronic illness
* Neurological Dysfunction: absence seizures, early tumors
* Environment: ineffective instruction, not attending school, cultural/linguistic differences, economic/social disadvantages
441
Which genetic syndromes include specific learning disorder?
X-Chromosome (Turners – SLD in math & Fragile X – SLD in math), neurofibromatosis Type 1 (SLD in reading), 22q Deletion Syndrome (SLD in reading and math)
442
Management of specific learning disorder?
Child’s school will do most of the work most of the time, but families will need your support for advocacy. Referrals to psychology and SLP. Know local resources – Edmonton area – Learning & Development Clinics.
443
What percentage of ASD cases are associated with a known genetic mutation?
Fifteen percent of ASD cases are associated with a known genetic mutation.
444
What is the etiology of ASD?
Etiology of ASD is multifactorial:
* Prenatal neurological insults (e.g., infections, drugs), advanced paternal age, and low birth weight.
* Fragile X syndrome = most common known single gene cause of ASD. Other genetic causes of ASD: Down syndrome, Rett syndrome, tuberous sclerosis.
* High comorbidity with ID.
* Association with epilepsy.
445
What are the common comorbidities of ASD?
Intellectual disorder 60%, seizure disorders, abnormal EEG
446
The two most important prognostic factors in ASD are if they have ___ and \_\_\_\_\_\_?
ID and language development
447
What is the definition of intellectual disability?
Definition: A state of functioning that originates before the age of 18 and characterized by significant limitations in both intelligence and adaptive/social skills
448
What is the diagnostic criteria (DSM5) for intellectual disability?
* Deficits in intellectual functioning, such as reasoning, problem solving, planning, abstract thinking, judgment, and learning.
* Deficits in adaptive functioning, such as communication, social participation, and independent living. Deficits affect multiple domains: conceptual, practical, and social.
* Onset occurs during the developmental period.
* Intellectual deficits are confirmed by clinical assessment and standardized intelligence testing (scores at least two standard deviations below the population mean). WISC or WAIS-IV
* Adaptive functioning deficits require ongoing support for activities of daily life.
* Severity levels: mild, moderate, severe, and profound.
449
What determines the level of support that an individual with ID should receive?
Adaptive functioning
450
What is the etiology of intellectual disability?
Prenatal: infections and toxins (TORCH), genetic (Fragile X, Down, Prader-Willi Syndrome, Rett Syndrome, Cat’s cry syndrome, neurofibromatosis), perinatal (prematurity, birth trauma, meningitis, hyperbilirubinemia), postnatal (hypothyroidism, malnutrition, toxin exposure, asphyxia)
451
Investigations for ID?
Screening blood tests, ECG, neuroimaging (more likely in childhood), standardized IQ testing
452
What are the classifications for ID?
* Mild intellectual disability – IQ 70-50. Can learn, read and write between 3rd and 6th grade level. 85% of ID population. May live independently
* Moderate ID - Grade 3. IQ 35-49 10% of ID population. May be able to learn some functional skills such as safety and self help. Requires oversight and supervision
* Severe ID – Probably not able to read or write. Requires supervision in daily activities and living environment
453
Typical presentation of syncope?
\<30s duration +/- myoclonic jerks + lightheadedness + sweating + no prolonged confusion or lethargy post-event
454
History for syncope?
Nausea and vomiting before collapse + syncope with exertion + seizure features (tongue biting, incontinence, post-collapse disorientation) + last meal + history of cardiac disease + previous syncope/seizures/psychiatric problems + current meds + FHx of unexplained syncope or sudden death
455
What causes situational syncope?
Due to mechanoreceptors in esophagus, lungs, bladder, and rectum triggered by coughing, swallowing, urination, and defecation, respectively
456
Investigations for syncope?
CBCd + lytes + Urea/Cr + troponin/CK + ECG + 24h Holter + EEG (if suspect seizures) + Stress Test + Tilt Table Test (to confirm vasovagal syncope)
457
Physical exam for syncope?
Prthostatic hypotension + irregular or slow-rising pulse + apical-carotid delay + soft/paradoxical split S2 + presence of S4 + murmurs (particularly AS) + carotid sinus massage + injuries + aLOC + neuro deficits
Always obtain postural vitals if suspect syncope
458
Pathophysiology of neurocardiogenic (Vasovagal) syncope?
Prolonged standing, vigorous exercise, emotional distress, severe pain \> excessive peripheral venous pooling \> decreased venous return \> compensation with cardiac hypercontractile state \> activation of mechanoreceptors = paradoxical reflex bradycardia and drop in peripheral vascular resistance = decreased output to brain = syncope
459
Diagnosis of neurocardiogenic (Vasovagal) syncope?
Tilt-table Test or implantable loop recorders
460
Clinical features of neurocardiogenic (vasovagal) syncope and/or neurogenic orthostatic hypotension?
Pre-syncope symptoms like weakness, light-headedness, diaphoresis, visual blurring, headache, nausea, and feeling warm or cold; lasts about 30s-5min (recovery is rapid with minimal post-ictal state)
461
Treatment of neurocardiogenic (Vasovagal) syncope?
Lie down if pre-syncope + adequate fluids and salt intake + SSRI + vasoconstrictor (midodrine) + permanent cardiac pacing if recurrent
462
Pathophysiology of neurogenic orthostatic hypotension?
Standing leads to pooling of blood in legs \> decreased venous return to RA \> decreased CO = normally, triggers autonomic response via baroreceptors in carotid sinus and aortic arch = increased peripheral vascular resistance and CO. In NOH, this response is dampened or lost with autonomic failure, leading to hypoperfusion of various organs = light headedness, dizziness, syncope, weakness, fatigue, angina, orthostatic dyspnea; typically, in older individuals, exacerbated by standing, strenuous exercises, high temp, and meals
463
Diagnosis of neurogenic orthostatic hypotension?
Diagnosis: 30/20/10 rule – after standing for 2 minutes, an increase in heart rate of 30 beats per minute, decrease in systolic blood pressure by 20 mmHg, or decrease diastolic blood pressure by 10 mmHg.
464
Treatment of neurogenic orthostatic hypotension?
Treatment: gradual staged movements with postural changes, exercises, increased salt/fluid intake, elastic stockings, and minimize anti-HTN med use
465
Newborn history prenatal Q's?
* Received prenatal care?
* Any complications during pregnancy (HTN, infection, diabetes, bleeding)?
* Teratogen exposure (medications, smoking, EtOH)? Need to ask these specifically
* How many prenatal screening ultrasounds?
* Mothers age
466
Newborn history perinatal Q's?
* Spontaneous or induced?
* GA?
* Complications at delivery – any resuscitation needed?
* Birthweight?
* APGAR scores?
* Sepsis Risk Factors
467
Newborn history postnatal Q's?
* NICU stay?
* Hypoglycemia?
* Neonatal jaundice?
* Feeding difficulties?
* When did the baby pass meconium?
* Length of hospital stay?
* Newborn metabolic screen?
468
What are the components of the newborn history?
* Birth
* Nutrition
* Elimination
* Sleep
* Immunizations
* Development
* Medications
* Allergies
* Family Hx
* Social Hx
* ROS
* Safety
469
When should you start with solids for babies?
Solids: by 6 months (due to depletion of iron stores, switching from Mom’s stores to Babe’s if breastfed). \*Start solids at 3 months with rice cereal
470
What questions should be asked on newborn history for nutrition?
* Breastfeeding: any difficulties (with latch, cracked/sore nipples, thrush, supply, frequency/duration of feeds?)
* Formula: type + quantity + frequency + mixture method
* Difficulties: any signs of reflux + choking + diaphoresis + grunting + projectile vomiting?
471
What questions should be asked on newborn history for elimination?
wet diapers per day + BM frequency/colour
472
What questions should be asked on newborn history for sleep?
* Waking to feed at night? Able to fall back asleep?
* Sleeping in a crib/bassinet/in parents’ bed?
* How much is the babe sleeping?
473
What questions should be asked on newborn history for immunizations?
Scheduled? Not planning on it?
474
What are the gross motor, fine motor, speech (receptive + expressive), cognitive and social/emotional developmental milestones for 9MO?
* Gross motor: Pulls to stand, creeps on hands and knees
* Fine motor: Radial-digital grasp
* Speech (receptive + expressive): Mama/Dada, gestures (waves)
* Cognitive: Object permanence, peek a boo
* Social/Emotional: Separation anxiety
475
What are the gross motor, fine motor, speech (receptive + expressive), cognitive and social/emotional developmental milestones for 6MO?
* Gross motor: Sits tripod, rolls both ways
* Fine motor: Raking grasp, transfers hand to hand
* Speech (receptive + expressive): Babbling (gaa, baa)
* Cognitive: Stranger anxiety
* Social/Emotional: Expresses emotions
476
What are the gross motor, fine motor, speech (receptive + expressive), cognitive and social/emotional developmental milestones for 2-4MO?
* Gross motor: Head steady when held, head up to 45 degree when prone (2), sits with support, head 90 when prone, rolls front to back (4)
* Fine motor: Hands open half the time (2) Palmar grasp, brings object to midline (4)
* Speech (receptive + expressive): Cooing (ooo, aaa) (2), razzes, laughs (4)
* Cognitive: Prefers caregiver and follows past midline (2). Anticipates routine and purposeful sensory exploration (4)
* Social/Emotional: Social smile (by 6 wks), attachment to parent (2), explores parents face and turn-taking conversations (4)
477
What are the gross motor, fine motor, speech (receptive + expressive), cognitive and social/emotional developmental milestones for NEWBORN?
* Gross motor: Primitive reflexes – moro, babinski
* Fine motor: Grasp reflex
* Speech (receptive + expressive): Alerts to sounds/startles to sound, root and suck reflex
* Cognitive: Prefers contrast and high pitched voices
* Social/Emotional: Parent-child bonding, soot parent
478
What medication should newborns be on?
Vitamin D
479
What questions about FHx should be asked on newborn history?
Ethnicity + consanguinity + autoimmune disease + genetic conditions
480
What questions about social Hx should be asked on newborn history?
Caregivers + infant/parental attachment + parental support + social/finance support
481
What safety measures should be discussed at the newborn history?
* Car seat (rear facing)
* Safe sleep (ideally no co-sleeping, tight sheets, sleeps on back)
* Poison control number easily accessible
* Carbon monoxide and smoke detectors in the house
* Safe toys, minimal choking hazards
* Sun exposure – no sunscreen \<6 months of age
482
What is included in the routine newborn screen?
* Blood Glucose Screening (if High Risk): Those at risk for hypoglycemia including maternal DM + SGA/LGA + LBW + hypothermia + sepsis
* Hearing screening (auditory brainstem response screening)
* Bilirubin
* Metabolic and genetic screening (as indicated)
* HBV Prophylaxis (Immunoglobulin, Vaccine): if mother HBVsAg + give hep B immune globulin and vaccine
* GBS: maternal screen at 35-37w, intrapartum antibiotic administration or if not then sepsis work-up in baby
* Syphilis
* Vit K admin (reduces hemorrhagic disease)
* Erythromycin eye ointment (ophthalmic gonorrhea prevention)
483
What is step 1 of the newborn exam?
Assess vital signs + measurements (weight ~3-4kg, HC ~35cm, length ~50cm) + GA for any malformations, perfusion, overall tone/posture, movements and symmetry
484
Initially (0-10d) baby can lose ____ of body mass (or 2-3%/d for first 3 days then plateaus after 72hrs)
10%
485
What can the type of cry tell you on newborn exam?
Weak (sepsis/asphyxia) + hoarseness (hypocalcaemia, airway injury) + high pitched (kernicterus, CNS disease)
486
What is included on general inspection for the newborn exam?
* Crying
* Flexion: of extremities with clenched fists (fingers overlying the thumb)
* Skin
* Movement: spontaneous + symmetrical (examine for birth trauma)
* Breast Hypertrophy/Lactation: normal
487
What can different skin colours tell you on the newborn exam?
* Pink is good perfusion
* Blue: acrocyanosis (can be normal – caused by vasospasm of the small vessels of the skin in response to cold) or central cyanosis (not normal)
* Bruising/ecchymosis
* Pale: anemia or familial
* Grey: sick + acidotic
* Yellow: jaundice (hyperbilirubinemia)
* Green: meconium staining, direct bilirubin
* Bronzing: direct bilirubin
* Mottled: can be normal or sick – check BP, vitals
488
What is vernix?
The waxy or cheese-like white substance found coating the skin of newborn human babies. It is produced by dedicated cells and is thought to have some protective roles during fetal development and for a few hours after birth.
489
What is pustular melanosis?
A transient rash common in newborns. It is vesiculopustular and made up of 1-3 mm fluid-filled lesions that rupture, leaving behind a collarette of scale and a brown macule. More on darker skinned babies
490
What is milia?
Pinpoint white papules on the face that are keratin filled cysts. These resolve spontaneously.
491
What is a Mongolian spot?
Make sure not bruising. They are commonly found in babies with darker skin. They are normal and become less obvious over time.
492
What is erythema toxicum?
Most common newborn rash, benign and will get better over a few days - look like white dots with red base
493
What should be examined on the head for the newborn exam?
Size, shape, scalp and hairline, anterior and posterior fontanelles (flat vs. bulging vs. sunken), suture lines, trauma, neck webbing or masses, dysmorphic facial features
494
What is a subgaleal hemorrhage?
A fluctuant boggy mass that is moveable over the entire scalp. Can bleed a lot and is gravity dependent so when they are lying down, you’ll see fullness around the ears. Results from birth trauma, can be fatal
495
What is caput succedaneum?
Caput succedaneum is an extraperiosteal subcutaneous collection of serosanguinous fluid on the presenting portion of the scalp resulting from pressure during labor as the head delivers.
Overlaps sutures – disappears without tx
496
What is cephalhematoma and how can it be differentiated from subgaleal hemorrhage?
Cephalhematoma is hemorrhage beneath the periosteum. It can be differentiated from subgaleal hemorrhage because it is sharply limited to the area overlying a single bone, the periosteum being adherent at the sutures. Cephalhematomas are commonly unilateral and parietal. Doesn't cross suture lines.
497
What is included when examining the nose on the newborn exam?
Nose: nose shape/symmetry/philtrum
498
What is included when examining the eyes on the newborn exam?
PERRL + red reflex + size + palpebral fissures (slanted or not), some discharge and abnormal eye movements are normal, leukocoria – cataract or retinoblastoma
499
What is included when examining the ears on the newborn exam?
Shape, rotation, position. Ears that are floppy and lacking in normal cartilage, and especially if low placed are of significance and may be associated with urinary tract abnormalities. Tags, pits + tympanic membranes
500
What is included when examining the mouth on the newborn exam?
suck on gloved hand + feel along hard and soft palate + look for tongue tie + teeth/gum masses and cysts + uvula position + micrognathia/retrognathia
501
What is included when examining the neck/clavicles on the newborn exam?
The sternomastoid muscles should be palpated and the range of motion of head to each side checked to rule out congenital torticollis. Webbing, extra skin. Masses, Clavicular fracture if it was a big baby
502
What is included when examining respiration on the newborn exam?
* Rate – normal (30-60/min), tachypneic, apneic
* Chest Movement – symmetric, asymmetric, barrel chest
* Respiratory Effort/WOB
* Indrawing, abdominal, nasal flaring
* Other noises – grunting, moaning, stridor
* \*Examining for respiratory distress syndrome
503
What is included when examining chest on the newborn exam?
* Inspect: nipples, pectus excavatum. Galactorrhea – can be normal
* Auscultate: S1/S2 + HR regular vs irregular
* Cry: is it weak + high-pitched + stridor exacerbated
* Functional Murmurs: brief, soft, systolic, \<24hrs (due to change in pulmonary vascular pressure)
* Pathological Murmurs: loud, persistent, ~diastolic (small VSD ~ pansystolic/loud vs. big VSD ~ silent)
* Palpate: palpate pulses brachial/femoral + capillary refill (\<3s central)
504
Webbing or redundant skin in a female infant suggests _______ ?
Intrauterine lymphedema and Turner syndrome
505
Absence of femoral pulses or brachial femoral delay is suggestive of ______ and \_\_\_\_\_\_, bounding pulses \_\_\_\_\_.
Left sided heart lesions and coarctation of the aorta
PDA
506
What is included when examining abdomen on the newborn exam?
* Abdominal Shape: Flat, Scaphoid – congenital diaphragmatic hernia, Distension – might worry about obstruction often due to meconium ileus, Visible bowl loops
* Umbilical cord: 3 vessel cord (2 arteries/1 vein)
* Abdominal Wall Defects
* Gastroschisis
* Omphalocele
* Umbilical hernia – doesn’t require surgical correction
* Liver: 1-2cm below the costal margin is normal
* Spleen: not palpable
* Kidneys: ballotable
* Masses?
507
What is included when examining MSK on the newborn exam?
* Limbs
* Malformations
* Rocker-bottom feet and overlapping fingers – trisomy 18
* Club feet – requires orthopedic referral
* Syndactyly
* Polydactyly
* Syndromic features
* Hips - Barlow and Ortolani
* Back and spine
* Abnormal curvatures + any tuft of hair + dimples + lipomas/hemangiomas - spina bifida
* Need to get a spinal U/S to look for the occult spinal dysraphism.
508
How do you perform barlow and ortolani?
Do Barlow (pushing back with legs adducted at 90 degrees, posteriorly dislocates) and then Ortolani (relocate a previously dislocated hip – place the legs at 90 degrees and then push the leg anteriorly). Keep finger on femoral head, stabilize pelvis. This test is not reliable after 3 months
509
What are the risk factors of DDH?
Risk factors are breech (footling) + female + family history
510
What is DDH?
Is a partial/complete dislocation or instability of femoral head
511
What is included when examining GU on the newborn exam?
* Males: testes, penis, foreskin integrity, mass, urethral opening
* Any scrotal swelling can point to the presence of a hydrocele or a hernia.
* Penile length of less than 2.5cm is indicative of a micropenis and should be investigated.
* Females: labia, vaginal opening, discharge, mass
* Patent anus
* If ambiguous genitalia or bladder extrophy - urgent referral
512
What is included when examining CNS on the newborn exam?
* Normal: flexor tone (flexed and adducted) - abnormal would be limp/hypotonic + hypertonic
* Are they moving all limbs equally + symmetrically + spontaneously?
* Primitive Reflexes:
* Moro – hyperextend and then bring the arms close to the body
* Asymmetrical tonic neck reflex – Turn the baby’s head to one side. Fencing reflex
* Babinski – Dorsiflexion of the big toe and spreading of toes + plantar flexion
* Grasping reflex
* Tone: Normally flexed, Hypotonic maybe trying to slip through your hands, Look for head lag, Check for sucking and rooting
* Cranial Nerves: already done!
* Suck - CN 5 + 7 + 9 + 10 + 12
* Cry - CN 9 + 10
* Facial Symmetry - CN 7
* Doll’s Eyes - CN 3 + 4 + 6
* Response to loud noise - CN 8
513
What are the adverse reactions TdaP-IPV?
Adverse reactions: Prolonged crying, Hypotonic unresponsive state (rare), Seizure on day of vaccine (rare)
514
What are the contraindications for TdaP-IPV?
Contraindication: Evolving unstable neurologic disease, Hyporesponsive/hypotonic following previous vaccine, Anaphylactic reaction to neomycin or streptomycin
515
What are the contraindications for Rot-1?
Contraindications: History of intussusception, Immunocompromised, Abdominal disorder (e.g. Meckel’s diverticulum), Received blood products (e.g. immunoglobulin) within 42 d
516
What are the adverse reactions for Rot-1?
Adverse reactions: Cough, Diarrhea, vomiting
517
What are the adverse reactions for MMR?
Adverse reactions: Measle-like rash (7-14 d) Lymphadenopathy, arthralgia, arthritis, Parotitis (rare), Especially painful injection, Transient thrombocytopenia (1/30,000)
518
What are the contraindications for MMR?
Contraindications: Pregnancy, Immunocompromised infants (except healthy HIV positive children), Anaphylactic reaction to gelatin
519
What are the adverse reactions for varicella?
Adverse reactions: Mild varicella-like papules or vesicles; 2 wk may get local or generalized rash
520
What are the contraindications for varicella?
Contraindications: Pregnant or planning to get pregnant within 3 mo, Anaphylactic reaction to gelatin
521
What are the adverse reactions for influenza?
Adverse reactions: Malaise, myalgia, Febrile seizure when given with Pneu-C 13 or DTaP, Hypersensitivity reaction
522
What are the contraindications for influenza?
Contraindications: \<6 mo of age, Immunocompromised, Egg-allergic individuals – Live attenuated influenza vaccine is not recommended for those with an egg allergy. In these individuals, trivalent or quadrivalent vaccine can be given in environment where anaphylaxis can be managed
523
What are the benefits of immunizations?
* Unimmunized child at risk for serious infection, could result in significant morbidity/mortality
* Want to establish herd immunity - protects children who are not immunized
524
Who should definitely get vaccinated?
Those who should definitely get vaccinations: elderly people, people with chronical illness, people who have received transplants, people with asplenia)
525
What is the etiology of a crying/fussing child?
* Functional (e.g., hunger, irritability)
* Colic
* Trauma
* Illness - appendicitis, acute cholecystitis, congestive heart failure, acute airway obstruction, nephrolithiasis, sickle cell disease, clavicular fracture, toxic ingestion, hyperthyroidism
526
What are the most common causes of a crying/fussing child?
Infantile colic, gastroesophageal reflux (GER) and constipation
527
What should be asked on history for crying/fussing child?
* Description of baseline feeding, sleeping, crying patterns
* Infectious symptoms: fever, tachypnea, rhinorrhea, ill contacts
* Feeding intolerance: gastroesophageal reflux with esophagitis, N/V, diarrhea, constipation
* Trauma
* Recent immunizations (vaccine reaction) or medications (drug reactions), including maternal drugs taken during pregnancy (neonatal withdrawal syndrome) and drugs that may be transferred via breast milk
* Inconsistent history, pattern of numerous emergency department visits, high-risk social situations - all raise concern of maltreatment
528
What should be done on physical exam for a crying/fussing child?
* Vital signs - fever and tachypnea
* Signs of lethargy or distress and notes how the parents are interacting with the child.
* Respiratory exam
* Respiratory distress (eg, superclavicular and subcostal retractions, cyanosis)
* Respiratory infection (eg, wheezing, crackles, decreased breath sounds)
* Derm: swelling, bruising, and abrasions.
* Cardiac
* Cardiac compromise (eg, tachycardia, gallop, holosystolic murmur, systolic click).
* Abdomen is palpated for signs of tenderness.
* Genitals and anus - signs of testicular torsion (eg, red-ecchymotic scrotum, pain on palpation), hair tourniquet on the penis, inguinal hernia (eg, swelling in the inguinal region or scrotum), and anal fissures.
* Extremities are examined for signs of fracture (eg, swelling, erythema, tenderness, pain with passive motion). Fingers and toes are checked for hair tourniquets.
529
What are the red flags of crying/fussing child?
* Respiratory distress
* Bruising and abrasions
* Extreme irritability
* Fever and inconsolability
* Fever in an infant \< 8 weeks of age
530
What is the management of infantile colic?
* Parental relief, rest, and reassurance
* Hold baby, soother, car ride, music, vacuum, check diaper
* Some evidence for probiotics
* Maintain breastfeeding but eliminate allergens (cow's milk protein, eggs, wheat, and nuts) from mother's diet
* Time-limited (2 wk) trial of protein hydrolysate formula (e.g. Nutramigen)
531
Infantile colic is a ______ after thorough history and physical exam to rule out identifiable causes such as otitis media, cow's milk intolerance, GI problem, fracture
Diagnosis of exclusion
532
What are the risk factors of Down Syndrome?
RF: advanced maternal age, increased paternal age, radiation
533
What are the physical features of Down Syndrome?
General hypotonia, oblique palpebral fissures, small flattened skill especially the bridge of the nose, protruding tongue, single transverse palmar crease, small ears, Brushfield spots.
534
What medical conditions are more common for Down Syndrome?
* 50% CHD (AVSD most common)
* Hypothyroid (yearly TSH for life) – most common complication
* GI: atresias, TEF, Hirschsprung, celiac disease (2nd most common complication)
* OSA
* Alzheimer’s earlier
535
What are the developmental conditions of Down Syndrome?
* Vigilant hearing and visual screening (by 3mo of age)
* Increased risk of cataracts, refractive errors, conductive hearing loss
* Expressive speech delay \>90%
* Mild-moderate ID
536
What is Fragile X syndrome?
Fragile X syndrome are caused by an abnormality of the FMR1 gene on the X chromosome. The abnormality is an unstable triplet repeat expansion; unaffected people have \< 54 CGG repeats and people with Fragile X syndrome have \> 200
537
2nd most common cause of ID?
Fragile X Syndrome
538
Features of Fragile X Syndrome?
* Typical features include large, protuberant ears, a prominent chin and forehead, a high arched palate, and, in postpubertal males, macroorchidism. The joints may be hyperextensible, and heart disease (mitral valve prolapse ) may occur.
* Cognitive abnormalities may include mild to moderate intellectual disability. Features of autism may develop, including perseverative speech and behavior, poor eye contact, and social anxiety.
* Women with the premutation may have premature ovarian failure; sometimes menopause occurs in the mid-30s
539
What is constriction band syndrome?
It is a malformation due to intrauterine bands or rings that give deep grooves in, most commonly, distal extremities like fingers and toes
540
Is Fragile X Syndrome affects more males or females?
Affects more males than females
541
The constriction of appendages by amniotic bands may result in
* Constriction rings around the digits, arms, and legs
* Swelling of the extremities distal to the point of constriction (congenital lymphedema)
* Amputation of digits, arms, and legs (congenital amputation)
542
What are the congenital infections?
TORCH (Toxoplasmosis, other like Syphilis, Rubella, CMV, HSV) and GBS
543
What is toxoplasmosis?
Intracellular parasite, transmission via oocysts in cat feces, poorly washed/undercooked food, contaminated water.
544
What is used for the diagnosis of toxoplasmosis?
Dx: serology for IgM + IgG, avidity testing in mother, amniocentesis in fetus
If the IgG is positive but the IgM is low or negative, then it is likely that the person had an infection sometime in the past.
545
Triad of fetal symptoms of toxoplasmosis?
Triad of fetal symptoms: 1. chorioretinitis 2. obstructive hydrocephalus 3. intracranial calcifications (also IUGR, preterm)
546
Treatment of toxoplasmosis?
Spiramycin (concentrates in placenta to help MOM mainly but also FETUS) – if mom is infected. If you have fetal infection (PCR +ve on Amnio) → sulfadiazine, pryimethamine, folinic acid treatment for 1 year laterBUT NONE IN 1st trimester since these are teratogens. These decrease concentrations of toxo but do not remove it.
547
When does congenital varicella syndrome occur and what are the clinical features?
Congenital varicella syndrome, can only occur in first 20 wks of pregnancy. Other stuff: limb issues, IUGR, limb hypoplasia, intracranial calcifications, microcephaly, skin scarring. Look like chicken!
548
What are the symptoms of varicella?
Fever, maculopapular rash
549
When is neonatal varicella transmitted and what are the clinical features?
Results from transmission to fetus just prior to delivery – vertical transmission. Neonates born to mothers with varicella infections within days of delivery should receive VariZ Ig. Disseminated disease includes rash, pneumonia, hepatitis, meningitis
550
What is used for the diagnosis of neonatal varicella?
Dx: serology mother (IgM, IgG), fetus: amniocentesis, US
551
Treatment of varicella?
If suspected exposure – VariZ Ig within 10d. If she gets rash - IV acyclovir for 5-10 days + antibiotic. Delay pregnancy if needed. DO VZV SEROLOGY for all pregnant women unsure about prior infection and give vaccine PRIOR to pregnancy or postpartum but not in pregnancy.
552
What is Parvovirus B19 (Fifth’s Disease)?
DNA virus that causes FETAL ANEMIA/HYDROPS/FETAL DEATH. The virus attacks RBC precursors leading to hemolysis and transient aplastic crisis.
Suppresses bone marrow, fever malaise, slapped cheek
553
What is used for the diagnosis of Parvovirus B19 (Fifth’s Disease)?
Dx: mother serology IgM + IgG
554
Treatment of Parvovirus B19 (Fifth’s Disease)?
Treatment: some will have spont resolution (older babies – 30%), can terminate if complications arise. If 24-34 weeks → give steroids, can do cordocentesis and intrauterine transfusion. If \>34 wks – just deliver it!
555
What is Jarisch-Herxheimer Reaction?
Affects 40% pregnancies treated for syphilis, get contractions and fetal heart rate abnormalities but usually self-limited.
556
Treatment of syphilis?
Tx: benzathine penicillin G
557
Clinical features of congenital syphilis?
Congenital syphilis: early onset (\<2yo): rash, anemia, thrombocytopenia, hepatosplenomegaly, rhinitis, snuffles; late onset (\>2yo): dental anomalies (Hutchinson’s teeth, mulberry molars), saddle nose, skeletal anomalies (saber shins, saw tooth metaphysis), hearing loss, developmental delay.
558
What are the clinical features of congenital rubella?
Congenital rubella: microcephaly, cataracts (RUB ELLA THE CAT), congenital heart disease, organomegaly, deafness, developmental delay.
559
What is used for the diagnosis of congenital rubella?
Dx: IgG and clinical Sx (IgM may be non-specific)
560
Treatment of rubella?
Tx: MMR (live attenuated vaccination) avoid pregnancy for 28d, breastfeeding also contraindicated at this time
561
If maternal infection _____ risk for congenital rubella syndrome
\<20 wks
562
What are the clinical features of congenital CMV?
Congenital CMV: echogenic bowel, ventriculomegaly, periventricular calcifications, hepatomegaly/calcifications, ascites, hydrops, IUGR, oligohydramnios
563
What are the clinical features of neonatal CMV?
Neonatal CMV: chorioretinitis, deafness, seizures, thrombocytopenia, developmental delay
564
What is used for the diagnosis of CMV?
Dx: IgG, IgM avidity testing mother, fetal amniocentesis, US, MRI
565
Treatment of CMV?
Treatment: no evidence, supportive. Prevention/hygiene/previous maternal immunity are best. NO SCREENING (since no treatment). If newborn is infected after birth, can use ganciclovir.
566
Most common cause neonatal hearing loss
Cytomegalovirus
567
What percentage of neonates with CMV are symptomatic and what are the symptoms?
10% symptomatic: IUGR, microcephaly, etc “Blueberry Muffin Baby” (thrombocytopenia)
568
What percentage of neonates with CMV are asymptomatic and what are the later onset symptoms?
90% initially asymptomatic but many have later onset symptoms such as hearing loss and developmental delay
569
Treatment of herpes simplex in pregnancy?
Tx: if lesion/prodromal present→ C-section, if no symptoms→ acyclovir prophylaxis from 36wks
570
What are the clinical features of Group B Strep?
Neonatal Disease - Can be early onset (\<7days) – sepsis, pneumonia, meningitis or late (\>7days) → can lead to bacteremia, meningitis.
571
Treatment of GBS?
Tx: do GBS swab @35wks or so → give PENCILLIN IV prophylaxis during labour (or cefazolin, clinda, or vanco)!
572
Treatment of HIV in pregnancy?
Tx: combination anti-retrovirals regardless of CD4 count and viral load, if not already only ARTs then wait until 14 wks.
573
Signs and symptoms of respiratory distress in the neonate?
Tachycardia (\>160) + grunting + subcostal/intercostal indrawing + indrawing + nasal flaring + duskiness/central cyanosis + decreased air entry/crackles on auscultation
574
Neonatal respiratory distress DDx?
* Pulmonary: RDS + transient tachypnea of newborn + meconium aspiration + pleural effusion + pneumothorax + congenital lung malformations
* Infectious: sepsis + pneumonia + meningitis
* Cardiac: CHD (cyanotic/acyanotic) – maternal DM is a RF + PPHN
* Hematologic: blood loss + polycythemia
* Anatomic: TEF + congenital diaphragmatic hernia + mucous or meconium plug + choanal atresia
* Metabolic: hypoglycemia + inborn errors of metabolism
* Neurologic: CNS damage (trauma/hemorrhage) + drug withdrawal syndromes
575
Investigations for neonatal respiratory distress?
CXR + ABG + CBCd + blood cultures + blood glucose + ECG (if indicated)
576
How to differentiate if a baby’s respiratory distress is from a pulmonary cause or cardiac cause?
Administer 100% oxygen for 10 minutes and if it is not a cyanotic heart lesion then you expect the oxygen saturation to improve. The reason it does not improve in a cyanotic heart lesion because there is mixing of deoxygenated blood with oxygenated blood
577
What is the definition of RDS?
Definition: Deficiency of alveolar surfactant which increases surface tension in alveoli. Atelectasis is the hallmark of disease which appears as air bronchograms on chest x-ray.
578
What is the pathogenesis of RDS?
A resultant ventilation-perfusion mismatch causes hypoxemia and hypercapnia. Acidosis promotes plasma leaks and the formation of typical hyaline membranes.
579
What are the risk factors for RDS?
* Prematurity (\<34w) - \*Premature babies are also more susceptible to inflammation leading to chronic lung disease
* Gestational diabetes
* Male infant
* Multiple gestation
580
What investigations should be ordered for RDS?
* CXR
* Blood gas
581
What would be seen on CXR for RDS?
* Diffuse ground glass appearance
* Prominent air filled bronchi – air bronchograms
* Increase in thymus
582
What is the clinical presentation of RDS?
Newborn infants present within hours after birth with sign of respiratory distress including grunting, intercostal/ subcostal retractions and tachypnea. These signs peak at 24-36 hours of life. A further deterioration is sometimes seen at 3-5 days of life in very premature babies due to a symptomatic patent ductus arteriosus (PDA).
583
What is the treatment of RDS?
* O2, CPAP
* Intubation and administration of exogenous surfactant - BLESS
584
What is done as prevention for RDS
Antenatal steroids for mom if delivering \<34wk GA
585
What is transient tachypnea of the newborn (TTN)?
Delayed resorption of fetal lung fluid = accumulation of fluid in peribronchial lymphatics and vascular spaces = tachypnea (Wet Lung Syndrome)
586
What is the clinical presentation of TTN?
Clinical presentation is rapid shallow breathing with occasional grunting. Tachypnea is the hallmark of disease and it presents just after birth. Increased WOB, often no hypoxia/cyanosis
587
What are the risk factors of TTN?
Risk Factor: maternal DM + C section + fetal distress + precipitous delivery
588
What are the findings on CXR for TTN?
CXR - Interlobar fissures (caused by retained fluid), Increased pulmonary interstitial markings in both lung fields
589
Treatment of TTN?
O2, CPAP + IV fluids/NG tube feeds too tachypneic to feed. Resolves within 36h usually
590
What is meconium aspiration syndrome (MAS)?
Meconium is sterile but can cause airway obstruction, chemical inflammation and surfactant inactivation = chemical pneumonitis
591
What are the risk factors of MAS?
* Meconium stained amniotic fluid
* Post term/term gestation
* Fetal distress
* Perinatal depression
* African American ethnicity
592
What would be seen on VBG and CXR for MAS?
* CXR
* Course patches of atelectasis
* Areas of hyperinflation
* VBG: Respiratory acidosis
593
What is the treatment of MAS?
* Neonatal Respiratory Program: Stimulation, PPV (Positive Pressure Ventilation), O2, CPAP
* Routine intubation for endotracheal suction is no longer recommended- but is still indicated if thick meconium appears to be obstructing the airway
* Surfactant if intubated and require \>50% FiO2
594
What are the risk factors for pneumothorax in a neonate?
* Meconium stained amniotic fluid
* Administration of PPV
* Male gender
* Low birth weight
* Low 1 min Apgar score
595
What is the treatment of pneumothorax in the neonate?
Chest tube
596
What is the definition of congenital diaphragmatic hernia (CDH)?
A developmental defect of the diaphragm that allows abdominal viscera to herniate into the chest.
597
What is the pathophysiology of CDH?
* They have severe pulmonary hypoplasia of one (or both) lungs secondary to compression from the abdominal contents
* They have abnormal pulmonary vasculature, which often causes severe pulmonary hypertension
598
What is the treatment of CDH?
* Stabilization – immediate intubation, place NG tube, fluids and inotropic support, may need ECMO
* Placement of a vented orogastric tube and connecting it to continuous suction to prevent bowel distention and further lung compression
* Surgical repair – patch repair
599
What are the risk factors for Persistent Pulmonary Hypertension of the Newborn (PPHN)?
* Cyanosis and resp distress
* MAS/RDS/CDH/Pneumonia/ Sepsis
* Pulmonary hypoplasia/congenital heart disease
* Not responding to conventional treatment
* Pre and post ductal sats \>10% difference
600
What is the definition of Persistent pulmonary hypertension of the newborn (PPHN)?
Persistent pulmonary hypertension of the newborn (PPHN) occurs when pulmonary vascular resistance (PVR) remains abnormally elevated after birth, resulting in right-to-left shunting of blood through fetal circulatory pathways. This in turn leads to severe hypoxemia that may not respond to conventional respiratory support
601
Most specific indicator of occult bacteremia in infants \<3mo?
Most specific is WBC \<5
602
What is the definition of Early Onset Neonatal Sepsis?
Definition: Defined as sepsis within the first seven days of life (most become symptomatic within 24hrs of birth).
Vertical transmission most likely
603
Most common bugs that causes Early Onset Neonatal Sepsis?
**GBS, E.Coli**, S. viridans, S. pneumoniae, enterococcus, **listeria**
604
What are the risk factors of Early Onset Neonatal Sepsis?
* Maternal GBS colonization in the current pregnancy
* GBS bacteriuria at any time during the current pregnancy
* A previous infant with invasive GBS disease
* Prolonged ROM (\>18 hrs)
* Maternal fever (\>38 C)
* Premature labour
605
Investigations of Early Onset Neonatal Sepsis?
* First do acute management: ABCDEFG
* Blood gas
* Positive blood culture is the gold standard
* \<7 days old no urine culture
* LP if strong suspicion of EOS or signs of meningitis
* What would CSF display after antibiotics treatment: LP - culture might be negative but will still have high WBC, other markers of infection
* CBCD – total WBC less than 5 or neutrophil count less than 1.5 are more associated with EOS
* CRP: serial measurements/trend may be helpful
* CXR if respiratory symptoms
606
What are the signs of sepsis in a neonate?
* Initial signs may be subtle: respiratory distress, lethargy, poor feeding, temperature instability (can have low temps), poor peripheral perfusion, tachycardia, hypotension, seizures, acidosis, hypotonia
* IF SIGNS OF SEPSIS – TREAT WITH IV ABX (after investigations)
607
Women are screened at ____ weeks GA for GBS using cotton-tipped swab
35-37
608
GBS Intrapartum Antibiotic Prophylaxis?
* IV penicillin G
* IV cefazolin if the mother is allergic to penicillin but low risk for anaphylaxis
* IV clindamycin if high risk anaphylaxis and GBS sensitive to same
609
What is the treatment of Early Onset Neonatal Sepsis?
* \<7d: ampicillin (GBS, listeria), gent (E. coli)
* \>7d: cloxacillin (staph, no enterococcus coverage), gent
* Duration: 48 hrs
610
How do you fluid manage in pediatrics?
Replace deficits + maintenance + replace ongoing losses
Deficit Replacement: need to calculate deficit: Deficit (L): % dehydration x body weight (kg) = over 24 hours. Then subtract any boluses given
Add maintenance rate from 4-2-1 rule on top of this
611
What is the 4-2-1 rule in fluid management of pediatrics?
* 0 – 10 kg = 4 mL/kg/h
* 11 – 20 kg = 40 mL/h + (2 mL/kg/h for each kg over 10 kg)
* \>20 kg = 60 mL/h + (1 mL/kg/h for each kg over 20 kg)
612
What is considered severe dehydration in pediatrics and its management?
Severe (15%)
* Vitals: ^^HR, low BP
* Fontanelles: sunken
* Mucus Membranes: parched
* Tears: absent/sunken eyes
* Capillary Refill: \>4s
* JVP: ^^
* CNS: lethargic
* Skin: mottled
* Urine Output: oliguric/anuric
Management: IV fuids
613
What is considered moderate dehydration in pediatrics and its management?
Moderate (10%)
* Vitals: ^HR, orthostatic low BP
* Fontanelles: slightly sunken
* Mucus Membranes: dry
* Tears: decreased
* Capillary Refill: 2-4s
* JVP: ^
* CNS: irritable
* Skin: pale
* Urine Output: oliguria
Management: ORS (100mL/kg over 4h)
614
What is considered mild dehydration in pediatrics and its management?
Mild (5%)
* Vitals: normal
* Fontanelles: normal
* Mucus Membranes: normal/slightly dry
* Tears: normal
* Capillary Refill: normal
* JVP: normal
* CNS: normal
* Skin: normal
* Urine Output: normal
Management: ORS (50mL/kg over 4h)
615
Contraindications to oral rehydration therapy in pediatrics?
Contraindications to ORT: vomiting + severe hydration + shock + altered LOC + paralytic ileus
616
What sorts of fluids should be given to pediatric patients who are mild/moderate dehydrated?
Solutions high in sodium and glucose - carbonated drinks/sweetened juices discouraged because high carbs and osmoles but low in electrolytes
617
What is given as a maintanence fluid for severely dehydrated pediatric patients?
D5½NS + 20 mEq/L KCL or D5NS + 20 mEq/L KCL; usually over 24h \> replace the first half of the deficit over 8 hours, next half over 16 hours
618
Normal Urine Output in infants and children?
2-4 mL/kg/hr in infants
\> 1mL/kg/hr in children
619
What is the definition of neonatal hypotonia?
Definition: Neonatal hypotonia is defined as poor muscle tone in the muscles of the trunk, limbs and face
620
Etiology of neonatal hypotonia?
* Neurologic (e.g., perinatal asphyxia, spinal muscular atrophy, myasthenia gravis)
* Disorders of skeletal muscle (e.g., muscular dystrophy)
* Genetic/metabolic (e.g., Prader-Willi, Down Syndrome, Inborn errors of metabolism, hypothyroidism)
* Systemic illness (e.g., sepsis, dehydration, metabolic crises and electrolyte disturbances)
621
What is spinal muscular atrophy?
Genetic condition causes the degeneration of the anterior horn cells and thus causes motor deficit with no sensory involvement
622
Clinical presentation of spinal muscular atrophy?
Presentation: Profound symmetric proximal muscle weakness that is greater in the lower limbs along with decreased or absent deep tendon reflexes. Sometimes fasciculations of the muscles, including the tongue
623
What is the most common type of spinal muscular atrophy in newborns?
Most common type in newborns - SMA type 1 (Werdig-Hoffman disease)
624
What is myasthenia gravis?
Neuromuscular junction disorder, chronic, autoantibodies against postsynaptic ACh receptors, associated with thymic hyperplasia + thymoma
625
Clinical presentation of myasthenia gravis?
Presentation: Global hypotonia and/or feeding and respiratory difficulties or apneas
626
Diagnosis of myasthenia gravis?
Diagnosis: Detection of antibodies to the acetylcholine receptor in the blood, repeated nerve stimulation tests
627
Treatment of myasthenia gravis?
Tx: cholinesterase inhibitors (pyridostigmine), immunosuppression, remove thymus
628
What is Prader-Willi Syndrome?
A genetic condition that occurs due to the loss of expression of paternal genes on chromosome 15.
629
Physical features of Prader-Willi Syndrome?
Physical features include almond shaped eyes, small hands and feet, thin upper lip and hypogonadism.
630
Diagnosis of Prader-Willi Syndrome?
Diagnosis: karyotype and methylation studies, followed by fluorescence in situ hybridization (FISH), and then microsatellite probes to detect maternal uniparental disomy
631
Symptoms of Prader-Willi Syndrome?
Symptoms: Infancy – poor feeding, low muscle tone. Childhood – excessive weight gain/overeating, ID, low sex hormones (hypogonadism)
632
Treatment of Prader-Willi Syndrome?
Treatment: Oromotor evaluation, swallow study, and thickened high-calorie feedings are commonly used early in life; patients with significant reflux or swallowing dysfunction may require gastrostomy or fundoplication
633
Causes of congenital hypothyroidism?
Thyroid dysgenesis (lingual, ectopic, agenesis), thyroid dyshormonogenesis (a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis), other causes: maternal drugs, iodine deficiency
634
Symptoms of congenital hypothyroidism?
Asymptomatic initially, lethargic, poor feeding, constipation, facial edema, large posterior fontanelle, macroglossia, jaundice, umbilical hernia, hypotonia
635
Diagnosis of congenital hypothyroidism?
Dx: newborn screen TSH + confirmed by venous TSH and T4
636
Treatment of congenital hypothyroidism?
Tx: L-thyroxine, follow up TSH q1-2mos. If late Tx→ irreversible brain damage/abnormal growth
637
What are congenital muscular dystrophies?
Congenital muscular dystrophies include a number of conditions in which infants are hypotonic and weak at birth and in which muscle biopsies show changes consistent with muscular dystrophy. Arthrogryposis (joint contractures) commonly is observed in the newborn period
638
What are the two dystrophinopathies seen in children and when is there onset?
The Duchenne and Becker muscular dystrophies
The clinical onset of weakness usually occurs between two and three years of age, or later.
639
What is congenital myotonic dystrophy?
The classic form of myotonic dystrophy has its onset in adolescence or adulthood. The congenital form of the disease occurs in infants born to mothers with myotonic dystrophy. Patients may present with profound hypotonia at birth occurring in association with facial diplegia, feeding, respiratory difficulties, and skeletal deformities such as clubfeet
640
What are the findings of central hypotonia?
“floppy, but strong” - present with a hypotonic posture, but may be able to respond with near appropriate power to applied external stimuli.
Hyper-reflexic or have normal reflexes and often show other central nervous system abnormalities such as decreased level of consciousness, seizures, apneas and feeding difficulties
641
What are some causes of central hypotonia?
Causes: hypoxic-ischemic encephalopathy (HIE), intracranial bleeds or strokes.
642
What are the findings of peripheral hypotonia?
“floppy and weak”. They are often found in a “frog leg” type posture with both lower legs wide open on the bed and have a very limited motor response to applied external stimuli. They may demonstrate normal or hyporeflexia and may have diffusely low muscle bulk and/or multiple congenital contractures. Despite this, they are “centrally bright” with preservation of alertness and consciousness
643
What should be asked on history for a hypotonic infant?
* Timing and the progression of the hypotonia – Since birth, or did it evolve over time
* Developmental milestones
* Prenatal: polyhydramnios, abnormal maternal screening for chromosomal abnormalities and history of drug exposures, TORCH, gestational diabetes, HTN
* Birth: GA and mode of delivery, fetal heart rate abnormalities, forceps or vacuum use and any associated complications, Apgar score, arterial umbilical arterial cord blood gas, presence of meconium, need for neonatal resuscitation
* Neonatal history
* Systemic illness: GBS status, prolonged rupture of membranes and maternal fever
* FHx of genetic conditions or neurological conditions
644
What should be done on physical exam for a hypotonic infant?
* VS, general appearance
* Growth measurements
* Signs of genetic/metabolic conditions by examining the skin for abnormalities, rashes, jaundice or cyanosis
* Dysmorphic features - wide set or almond shaped eyes, abnormal or low-set ears, upward slanting palpebral fissures, long face, microcephaly, absent philtrum and thin upper lip
* Neuro exam:
* Fasciculations
* Strength - Able to flex and spontaneously move the upper and lower limbs
* DTR + primitive reflexes
* Tests for tone:
* Horizontal suspension – U shape
* Vertical suspension – slip through hands
* Traction response – head lag
645
Systemic + neurologic + genetic investigations for a hypotonic infant?
* Systemic: full septic workup, electrolytes including magnesium and calcium, liver function tests, ammonia and lactate.
* Neurological:
* Central – MRI of the brain +/- EEG
* Peripheral – creatinine kinase, electromyography/nerve conduction study, and potentially a muscle biopsy
* Genetics/metabolic: chromosomal analysis (karyotype) + genetic testing + metabolic testing + neuromuscular testing
646
DDx for newborn vomiting?
* Pyloric Stenosis
* Duodenal Atresia
* Intestinal Malrotation
* Trachea-Esophageal Fistula
* Necrotizing Enterocolitis (NEC)
* Bacterial Infection (meningitis, sepsis, UTI)
647
What is pyloric stenosis?
Hypertrophy of pyloric muscles at outlet of stomach (peaks 3-6w); progressively worse projectile, non-bilious/bloody vomiting immediately after feeds and every feed
648
Clinical presentation of pyloric stenosis?
Presentation: visible abdominal peristalsis, olive shaped mass near umbilicus, look dry and emaciated; medical emergency ~ lytes disturbance = hypochloremic hypokalemic metabolic alkalosis
649
Investigations of pyloric stenosis?
Investigations: U/S, metabolic labs – renal function: AKI, electrolytes
650
Treatment of pyloric stenosis?
Management: consult peds surgery – pyloromyotomy, fluid resuscitation, ensure electrolytes
651
What is duodenal atresia?
Congenital absence of part of the small bowel (can be esophageal, jejunal, etc.); present shortly after birth with bilious or non-bilious vomiting after first feed (depending if atresia is distal or proximal to the Ampulla of Vater), usually no abdo distension – if already several weeks old, you can rule this out
652
Clinical presentation of duodenal atresia?
Presentation: bilious or non-bilious vomiting post-feeds within the first 24h of birth + classic double bubble sign on XR (gas filling the stomach and the proximal duodenum only), usually no abdo distension
653
Investigations of duodenal atresia?
Investigations: upper GI series
654
Treatment of duodenal atresia?
Management: peds surgery consult + NPO + IV rehydration
655
What is intestinal malrotation?
Congenital anomaly where bowel is not anchored properly (Ladd’s bands) = more likely to move around = intermittent bowel obstruction
656
Clinical presentation of intestinal malrotation?
Presentation: intermittent (mostly bilious) vomiting, significant distention and significant hunger; can be associated with volvulus = when it actually twists on itself ischemia will get sick quickly, bilious vomiting, distended abdomen. More common than duodenal atresia
657
Management of intestinal malrotation?
Management: upper GI series
658
Presentation of Necrotizing Enterocolitis (NEC)?
Presentation: decreased feeding tolerance + vomiting + abdo distension + diarrhea + hematochezia
659
Who commonly gets NEC and what is commonly caused by?
Common in premature infants; commonly caused by meconium ileus + Hirschsprung disease + imperforate anus
660
DDx for infants \<1yr vomiting?
* Gastro-Esophageal Reflux (GER)
* Gastro-Esophageal Reflux (GERD)
* Bowel Obstruction
* Intussusception
* Food Allergy/Milk Protein Allergy/Celiac Disease
* Eosinophilic Esophagitis
661
What is Gastro-Esophageal Reflux (GER)?
Normal + common presentation between 1-3 months with frequent small volume regurgitation of milk substance, irritability with feeds and lying supine. By 1 year usually don’t have symptoms
662
When does intussusception occur?
Often one week post viral (hypertrophy of Peyer’s patches) but could also be from foreign body ingestion (batteries/magnets)
663
What is intussusception?
Intussusception: intussusception is intermittent telescoping/invagination of a portion of the small bowel into another portion (Bowel telescopes into a segment just caudal to it – ileocecal junction most common)
664
Classic triad of intussusception?
Presentation (Classic Triad): intermittent/progressive abdo pain + red currant jelly stools (from localized bowel necrosis) + palpable sausage-like abdominal mass (w/ vomiting)
665
Investigations/Management of intussusception
Investigation: gold standard diagnostic and therapeutic modality is air enema air pushes bowel back out; if not sufficient then might need surgery
666
Cushing's triad of ^ICP?
Presentation: Cushing's triad is a clinical triad variably defined as having: Irregular, decreased respirations (caused by impaired brainstem function) Bradycardia. Systolic hypertension (widening pulse pressure)
667
Presentation of DKA in pediatrics?
Presentation: suspect with vomiting/abdo pain (from acidosis), hyperglycemia, metabolic acidosis, urine output incongruent with vitals and a history consistent with dehydration (good urine output in dry patient - (^HR, low BP, sunken eyes, \>2s cap refill, vomiting on hx), acute kidney injury, lytes abnormalities
668
Investigations of DKA in pediatrics?
Investigations: serum glucose, blood gas, lytes, renal function , urine ketones, glucose
669
Management of DKA in pediatrics?
Management: close monitoring, neurovitals, fluids, insulin
670
What is respiratory related vomiting?
Respiratory Related Vomiting: post-tussive emesis which is common in asthma, foreign body aspirations, respiratory infections after prolonged/forceful coughing
671
DDx of older children 1+ vomiting?
* Infections: UTIs + meningitis + sepsis + pyelonephritis
* Gastroenteritis
* Appendicitis
* Neurological (^ICP):
* Metabolic/Endocrine: DKA + CAH + inborn errors of metabolism
* Respiratory Related Vomiting
* Psychogenic/Behavioural: overfeeding + bulimia nervosa + pregnancy
672
What should be done for physical exam for pediatric vomiting?
* Abdominal:
* Inspection: abdominal distension + masses or visible peristalsis on inspection
* Auscultate: hyperactive or absent bowel sounds
* Palpation: tenderness + masses + organomegaly
* Special Tests: for appendicitis + cholecystitis
* Neurological: rule out ^ICP – papilledema + bulging fontanelles + focal neurological deficits
* CN VI: usually the first affected because of long intracranial course
* Meningitis: any baby with vomiting, you should rule out meningitis!
* Head-to-Toe: inspect tympanic membranes + pharynx + auscultate chest + assess meningismus
673
General management for pediatric vomiting?
* Anti-Emetic: Zofran (safe in 6 months or older)
* Dehydration/Electrolyte Disturbances: oral rehydration or NG or IV fluids
* Feeding: smaller amounts over longer periods of time so you don’t “overload” the stomach with volume-dependent vomiting
674
Normal birth weight and weight loss in first week?
Birth Weight: normal is 3.25kg (7lbs); weight loss (up to 10% BW) in first 7d normal, regain BW by 10-14d
675
Typical growth for neonate, weight by 4-5 months, 1yr and 2yrs
Growth: gain 20-30g/d (term neonate) \> 2x BW by 4-5 months + 3x BW by 1yr + 4x BW by 2yrs
676
Normal height of newborn
Normal is 50cm (20in)
677
How to measure height/length in neonate
Measure supine length until 2yrs of age then measure standing height
678
Typical growth for children in year 1, 2, 3, until puberty
25cm in year one \> 12cm in year two \> 8cm in year three + 4-7cm/yr until puberty + ½ adult height at 2-years-old
679
Normal head circumference?
Head Circumference: normal is 35cm (14in); measure around occipital, parietal, and frontal prominences to obtain greatest circumference
680
What should you go over in terms of diet for a neonate?
* Involve all 5 food groups + how much milk/juice?
* Switch to homo by 12 months, switch to 2% by 2-6 years
* Max milk 24 oz daily
* Too much juice can cause toddler’s diarrhea
* Choking hazards with food
* Hard, round, sticky, smaller than the diameter of a toilet paper roll
* Promote open cup instead of bottles
* Vitamin D supplementation? How much?
* 1 drop daily if breastfeeding (400 IU)
681
Developmental milestone categories?
GFSCS (gotta find strong coffee soon)
* Gross Motor
* Fine Motor
* Speech-Language
* Cognitive
* Social-Emotional
682
Gross motor milestones - 12m, 18m, 2y, 3y, 4y
Development goes head to toes:
* 12 months – legs – standing/walking
* 18 months - runs
* 2 years – 2 foot jump, stairs
* 3 years – tricycle
* 4 years – hops on one foot
683
When does atonic neck reflex disappear?
4-6 months: Atonic neck reflex diminishes to allow for rolling over. When they turn their head in one direction they'll throw their arm on that side out straight and their other arm next to their ear - might prevent them from rolling over
684
When do postural reflexes present?
* 4-6 months: forward parachute and righting response (sideways parachute) for sitting balance
* 9-12 month: Backward parachute for standing and walking
685
When does the Moro reflex disappear?
4-6 months: Moro disappears to allow for sitting balance
686
When does plantar grasp disappear?
9-12 months: Plantar grasp disappears to allow for standing balance and first steps
687
Fine motor milestones - 12m, 18m, 2y, 3y, 4y
Development progresses proximally to distally
* 12 months – finer pincer grasp. At 12 months you can point to something right in front of you.
* 18 months – 4 block tower, scribbles
* 2 years – handedness established, uses fork
* 3 years - Draws circle and cross. Toilet trained
* 4 years – Cuts shapes with scissors
688
Speech-Language milestones - 12m, 2y, 3y, 4y
* 12 months – say 1 word and follow 1 step directions
* 2 years - Say 2 word phrases, 50% intelligible. Follow novel 2 step directions, labels objects
* 3 years - Say 3 word combinations. Follow novel 3 steps directions
* 4 years – phrase speech, tells a story
689
Cognitive milestones - 12m, 18m, 2y, 3y, 4y
* 12 months – Imitates gestures and sounds, uses toys functionally. CAUSE AND EFFECT
* 18 months - Imitates housework, symbolic play
* 2 years - Matches objects
* 3 years - Identified shapes, counts to 3
* 4 years - Counts to 4, Opposites
690
Social-emotional milestones - 12m, 18m, 2y, 3y, 4y
* 12 months: Pointing at objects. A pointing finger looks like a 1 (comes with a burst of words and cause and effect exploration). Plays at secure base
* 18 months: Parallel play - They are aware and interesting in what the other is doing
* 2 years – Tests limits, no!
* 3 years - Cooperative play, empathy, sharing
* 4 years – Has preferred friend
691
What should be told prior to social history for adolescents?
Confidentiality Statement: “whatever you say to me, I cannot tell your mom or anyone else unless there is risk of harm to you, someone else, or I think someone is harming you.”
Then ask parents to step out and complete the rest of the history
692
Social history HEAADDSSS for adolescents?
* Home: what is home like? Do you have a go-to person at home?
* Education/Employment: how are things at school?
* Activities: what do you do for fun outside of school?
* Drugs: any of your friends smoking/drinking/doing drugs?
* Dieting: how do you feel about how much you weigh – too little, too much, just right? Have you ever done anything to try to change your weight?
* Sexuality: are you dating anyone currently or have you dated someone?
* Suicide/Depression: screen with MSIGEGAPS (screen is (+) if depressed mood + 4 other criteria x 2 weeks) - how is your mood?
* Safety: seatbelts/helmets/driving + guns/weapons at home + screen for abuse
693
What is Munchausen by Proxy?
Caregivers (such as a parent), intentionally produce or falsify physical or psychologic symptoms or signs in a person in their care (usually a child), rather than in themselves
694
What should you consider when dealing with a case of suspected child abuse?
* Consider developmental capabilities
* Mechanism - a spiral fracture in a non-ambulatory child is concerning. If its accidental you need some sort of twisting mechanism
* Consistencies in history
* Promptness in presentation for care
695
DDx for fractures in children?
DDx: trauma (accidental vs inflicted) + osteogenesis imperfecta + rickets (rare to see fractures because of rickets) + osteoporosis
696
Differential the 4 types of IV osteogenesis imperfecta?
* Type I: blue sclera + hearing loss + family history
* Type 2 and 3: Fatal and born with lots of fractures
* Type IV: easily broken bones
697
What does xray show for rickets?
Xray: Bowing, osteopenia, fraying and cupping. Buckle fracture
698
Investigations for fracture in children for suspected child abuse?
* CBC, Cr, LFTs, serum calcium, phosphate and alkaline phosphatase, urinalysis
* When clinically indicated: parathyroid hormone, 25-hydroxy-vitamin D, serum copper, ceruloplasmin
* Skeletal survey
699
Historical red flags for fractures in children?
* No history of trauma/unwitnessed injury
* History incompable with age/developmental stage OR with injury
* History changes with repetition
* Delay in seeking medical attention
700
Clinical red flags for fractures in children
* Age \< 1 year
* High-risk fractures
* Rib fractures
* Metaphyseal fractures
* Humerus fracture \< 18 months
* Femur fracture in a non-ambulatory child
* Multiple fractures
* Fractures of different ages
* Presence of other injuries - Bruises, especially on the child’s trunk, ears and neck
701
What is considered acute sexual abuse
Acute - Acute is under 72 hrs. Still time to do all the prophylaxis
702
What should be asked on history for sexual abuse in children?
History – gather from neutral caregiver
* Ano-genital pain, bleeding, discharge, or itching
* Bowel and urinary symptoms
* Abdominal pain
* Changes in a child's mood, behaviours, or fears
* Current medications, allergies, and immunizations
703
Physical exam for sexual abuse in children?
* Assessment of skin, growth and development, including Tanner staging
* Examination of the ano-genital region - visualization of the hymen and peri-hymenal tissues - any abnormalities, such as bruising, redness, abrasions, or bleeding
* Usually the injury is through the posterior hymen or the fossa navicularis
* 95% of children have a normal physical after an assault- If you are post-pubertal - this part of the body heals very quickly
704
Management of sexual abuse in children?
HIV PEP, Hep B PEP, STI PEP, Pregnancy PEP, document, rape kit (they can refuse)
705
DDx for brusing in child?
* Trauma (inflicted or accidental) - inflicted usually has a pattern, on ears, on infants, bilateral, posterior surfaces (children usually fall forward), bum
* Benign bruise mimics (slate-grey nevi birthmarks, hemangioma, skin stained from dyes)
* Coagulation disorders (hemophilia, von Willebrand Disease, platelet abnormalities – ITP, leukemia, sepsis)
* Leukemia: well child with lots of bruising + palpable spleen
* ITP: well child with lots of bruising + non-palpable spleen
* Meningococcemia: petechiae and ecchymoses
* Ehlers Danlos Syndrome: hypermobility leads to stretch mark appearance around joints; “cigarette paper” appearance that doesn’t really look like bruising
706
Features of non-concerning/accidental bruising in children?
Non-Concerning/Accidental: small, oval/round, non-distinct borders, located near bony prominences on front of body (often forehead, knees or shins) aka where there isn’t much fat cushioning, consistent with child’s developmental abilities
707
What should be asked on history for bruising in children?
History: Previous bleeding with procedures (circumcision), epistaxis (\>10 mins, requiring medical treatment), joint swelling with minor injury, Hx of hematuria, hematochezia, melena, Social Hx – child abuse
708
Red flags for bruising in children?
Red-Flag Presentations: not fitting the causal mechanism described or on infants/babies that aren’t moving
* Locations: posterior surfaces + ears + neck + feet + where lots of fat cushioning (buttocks, abdo)
* Distribution: unusually large/numerous/clustered/patterned – bilateral/symmetric
709
Investigations for bruising in children?
* CBC, PT/PTT
* Consider: If something on history is suggestive of a bleeding disorder - VWB work-up
* Consider: sepsis (fever) – blood culture
* Consider: leukemia (splenomegaly, B-symptoms)
* Two things to think of in a child that had a preceding viral infection and is otherwise well - leukemia or ITP. If you can palpate the spleen think of leukemia
* Consider: Ehlers Danlos (cigarette paper over joints)
710
DDx for head injuries/seizures in children?
* Febrile convulsion
* Lytes (hyponatremia, hypernatremia or hypoglycemia)
* Metabolic problem
* Infectious - meningitis (top 3 bugs: E.coli, GBS, listeria). HSV causes encephalitis - mom had no history of having congenital herpes.
* Traumatic brain injury, hemorrhagic bleed of the newborn (now we prevent with vit K)
* Malignancy
* Shaken Baby Syndrome
711
Triad of shaken baby syndrome?
Triad: subdural hematoma, cerebral edema, retinal hemorrhages (usually bilateral)
Others: posterior rib fractures, corner fractures
712
Etiology of abnormal pubertal development
* Delayed puberty
* Precocious puberty
* Incomplete precocious puberty (e.g., premature thelarche, premature adrenarche)
713
When is the onset of puberty in females?
Onset: age 8-13 yr old (may start as early as 7yr in girls of African descent), mean age: 10.5
714
When is the onset of puberty in males?
Onset: age 9-14yr old, mean age: 11.5
715
Normal pubertal sequence in females?
1. thelarche: breast budding
2. pubarche: axillary hair, body odour, mild acne
3. growth spurt
4. menarche: mean age 12.5 yr; indicates that growth spurt is almost complete; menses may be irregular in duration and length of cycle
(Boobs, pubes, grow, flow)
716
Normal pubertal sequence in males?
1. testicular enlargement
2. penile enlargement
3. pubarche: axillary and facial hair, body odour, mild acne
4. growth spurt: occurs later in boys
717
Questions to ask on history for abnormal pubertal development?
* Puberty: First signs, any changes
* Pubertal onset in parents
* PMHx: any chronic illnesses, congenital abnormalities (midline defects, cryptorchidism, cleft lip and palate, or scoliosis)
* Neuro sx: headaches, seizures, vision changes, anosmia
* Abdo pain, weight loss, bowel habit, blood in stool
* Nutrition and intensity of exercise
718
Physical exam for abnormal pubertal development?
* Height, weight, and the rate of growth in cm/year, and to plot the measurements on a growth chart
* Height for age and bone age
* Arm span length
* Pubertal exam - secondary sex characteristics using Tanner criteria
* Neurological assessment
719
Investigations for abnormal pubertal development?
* Initial screening tests: bone age, serum hormone levels (estradiol, testosterone, LH, FSH, TSH, prolactin, free T4, DHEA-S, 17-OH-progesterone)
* CBC, electrolytes, BUN, Cr, LFTs, liver enzymes, ESR, CRP, urinalysis
720
Secondary tests for precocious puberty:
MRI head, pelvic U/S, b-hCG, GnRH, and/or ACTH stimulation test
721
Secondary tests for delayed puberty:
MRI head, pelvic U/S, karyotype, IBD panel, celiac disease panel, LH levels following GnRH agonist
722
Define precocious puberty
The onset of Tanner 2 secondary sexual characteristics before age 8 years in females or age 9 years in males
723
In females, precocious puberty is most likely ____ while in males it is more suggestive of \_\_\_\_
Usually idiopathic in females (90%), more suggestive of pathology in males (50%)
724
Define central precocious puberty?
Central precocious puberty is gonadotropin-dependent (hypergonadotropic hypergonadism) and is caused by premature activation of the hypothalamic-pituitary-gonadal (HPG) axis.
725
Define peripheral precocious puberty.
Peripheral precocious puberty is gonadotropin-independent (hypogonadotropic hypergonadism) and stems from increased secretion of sex hormones.
726
DDx for peripheral precocious puberty.
Adrenal disorders (CAH, adrenal neoplasm), testicular/ovarian tumour, gonadotropin/hCG secreting tumour (hepatoblastoma, intracranial teratoma, germinoma), exogenous steroid administration, McCune-Albright syndrome, aromatase excess syndrome, rarely hypothyroidism (Van Wyk-Grumbach syndrome), primary severe hypothyroidism
727
DDx for central precocious puberty?
Idiopathic or constitutional (most common in females), CNS disturbances (tumours, hamartomas, post-meningitis, increased ICP, radiotherapy), NF, primary severe hypothyroidism
728
What are the indications for medical intervention to delay progression of puberty
Rapid advancement of puberty, early age, risk of compromise of final adult height, psychological
729
Treatment for central precocious puberty
Goals are to preserve height and alleviate psychosocial stress; GnRH agonists (e.g. leuprolide) most effective
730
Treatment of peripheral precocious puberty
Goal is to limit effects of elevated sex steroids; treat underlying cause; medications that decrease the production of a specific sex steroid or block its effects (e.g. ketoconazole, spironolactone, tamoxifen, anastrozole), surgical intervention
731
Define delayed puberty
Failure to develop secondary sex characteristics by 2-2.5 SD beyond the population mean
* For males: lack of testicular enlargement by 14 yr old
* For females: lack of breast development by 13 yr old OR absence of menarche by 16 yr old or within 5 yr of pubertal onset
732
Two types of delayed puberty
* Primary hypogonadism
* Secondary hypogonadism
733
What is primary hypogonadism?
Primary hypogonadism is characterized by high levels of LH and FSH due to gonadal disease or gonadal receptor dysfunction.
734
Causes of primary hypogonadism?
Causes can be congenital, such as Turner Syndrome or Klinefelter syndrome, or acquired, such as gonadal trauma, infection, or chemotherapy.
735
What is secondary hypogonadism
Secondary hypogonadism is characterized by low to normal serum LH and FSH due to reduced GnRH-stimulated gonadotropin.
736
Causes of secondary hypogonadism
These can be due to functional causes such as constitutional delay of growth and puberty (CDGP), malnutrition, chronic illness, hyperprolactinemia, or hypothyroidism. They may also be due to hypothalamic or pituitary dysfunction, such as CNS tumour, or isolated GnRH deficiency, without anosmia or with anosmia, which is known as Kallman syndrome.
737
Management of delayed puberty
* Identify and treat underlying cause
* Hormonal replacement: cyclic estradiol and progesterone for females, testosterone for males
738
Pubertal linear velocities for girls v. boys:
* Occurs earlier
* Lower magnitude of peak velocity
* Shorter duration of pubertal growth
739
740
In CDGP or FSS is bone age delayed?
CDGP. In FSS bone age matches chronologic age
741
How is bone age determined?
Left hand X-Ray, assess the growth plates
742
In endocrine disorders is height or weight relatively preserved?
Weight (height is greater affected than weight)
743
Which - IGF-1 or IGF-BP3 are affected by weight?
IGF-1
744
What are the S/S seen in congenital GH deficiency?
Prolonged jaundice, midline defects, hypoglycemia
745
Which endocrine disroder that may only see progressive growth failure be the only clinical feature and the S/S that are classically present in adolescents/adults?
Hypothyroidism
746
Linear growth velocity changes throughout a child’s life. When (age) does the most rapid linear growth occur?
Birth - 1 year (25cm/year)
