Pediatrics Flashcards
(134 cards)
1
Q
What is the normal respiratory and heart rate for a newborn?
A
- RR should be 40-60
- HR should be 120-160
2
Q
How are Apgar scores calculated?
A
Graded for appearance, pulse, grimace, activity, and respiration (APGAR)
- 2 points are given for: normal color throughout, HR greater than 100, sneeze/cough, active movement, and strong respirations
- 1 point is given for: cyanotic limbs, HR between 60-100, grimace/weak cry, some flexion, and weak or irregular breathing
- 0 points are given for: diffuse cyanosis, HR less than 60, no grimace response, no activity, and no respirations
3
Q
How should apgar scores be interpreted?
A
- they are a measure of the need and effectiveness of resuscitation and how no predictive value for morbidity or mortality
- at 1 minute, they evaluate conditions during labor and delivery
- at 5 minutes, they evaluate the response to resuscitative efforts
4
Q
Describe the etiology, presentation, and diagnosis of retinoblastoma.
A
- caused by mutations in the tumor suppressor gene Rb on chromosome 13
- presents as a white reflex on ophthalmological exam
- do not biopsy these as there is a risk of seeding; instead, diagnosis is based on a dilated indirect ophthalmoscopic exam
5
Q
What is the most likely cause of conjunctivitis in the newborn period?
A
- at 1 day, it is most likely chemical irritatoin
- from 2-7 days, it is most likely N. gonorrhea infection
- from 7-21 days, it is most likely C. trachomatis infection
- after 21 days, it is most likely herpes simplex infection
6
Q
Describe the prophylaxis and treatment of conjunctivitis given to newborns.
A
- prophylaxis includes silver nitrate and topical erythromycin or tetracycline
- N. gonorrhea, usually seen at 2-7 days, is treated with ceftriaxone
- C. trachomatis, usually seen at 7-21 days, is treated with oral erythromycin
- Herpes simplex, usually seen after 21 days, is treated with acyclovir
7
Q
Why do neonates suffer from vitamin K deficiency?
A
they have a sterile GI tract and breast milk contains very little vitamin K
8
Q
All newborns should be screened for what eight diseases prior to discharge?
A
- PKU
- CAH
- CF
- B-thalassemia
- Galactosemia
- Hypothyroidism
- Homocystinuria
- Biotinidase
9
Q
What is the best initial test for CF? What is the most accurate?
A
- best initial is a sweat chloride
- most accurate is a genetic analysis
10
Q
What are three prophylactic steps taken in the immediate newborn period?
A
- silver nitrate and topical erythromycin or tetracycline for ophthalmia neonatorum
- vitamin K for bleeding prophylaxis
- hepatitis B vaccine
11
Q
Which newborns receive hepatitis B vaccination and hepatitis B immune globulins at birth?
A
- all should receive hepatitis B vaccination
- only those with HBsAg-positive mothers should receive immunoglobulin
12
Q
Which infectious disease are contraindications to breast feeding?
A
HIV, HTLV-1, active TB, and herpes lesions on the breast
13
Q
What is transient polycythemia of the newborn?
A
a physiologic polycythemia presenting with splenomegaly and plethora caused by hypoxia during delivery which stimulates EPO release
14
Q
What causes transient tachypnea of the newborn and how should it be evaluated?
A
- normally, compression of the rib cage during delivery helps remove fluid from the lungs, but cesarean may leave excess fluid resulting in tachypneic and hypoxic newborns
- this doesn’t require workup unless tachypnea persists for more than 4 hours
- at that time, blood and urine cultures should be collected for sepsis workup; add a lumbar puncture if there are neurologic signs like lethargy, temp irregularity, and feeding difficulties
15
Q
In pediatrics, what is the best indicator if a child is over or under weight? What is the best indicator for acute malnutrition?
A
- over/under-weight: use BMI
- acute malnutrition: look for a weight/height ratio less than the 5th percentile
16
Q
What is the most common cause of failure to thrive?
A
psychosocial deprivation
17
Q
What is the best next step in management of underfeeding?
A
these cases must be reported to child protective services
18
Q
How does being a preterm or low-birth-weight baby impact vaccination?
A
it shouldn’t; there should be no dose-adjustment and patients should be immunized according to their chronological age
19
Q
How do previous vaccine reactions, acute illness, and family history of seizures impact vaccination?
A
- a reaction to a previous vaccination limited to fever less than 105F, redness, soreness, and swelling is not a contraindicaiton
- neither are a family history of seizure or current mild, acute illness in an otherwise healthy child
20
Q
Egg allergy is a contraindication to which vaccine?
A
only to yellow fever
21
Q
Infants should all receive courses of which vaccines?
A
- Hepatitis B
- Rotavirus
- DTap
- Hib
- PCV 13
- Inactivated poliovirus
22
Q
When are live vaccines started?
A
MMR and varicella are not given until 1 year of age
23
Q
When can influenza virus first be given?
A
at 6 months of age
24
Q
What causes subconjunctival hemorrhages in the newborn and how should they be managed?
A
small hemorrhages are physiologic and caused by the rapid rise in intrathoracic pressure while the chest is compressed during delivery and no treatment is indicated
25
What is the most common skull fracture in the newborn? What is the most fatal?
- delivery is most likely associated with linear skull fractures
- but it can be associated with basilar which have greater mortality
26
What is the difference between caput succedaneum and a cephalohematoma? How does the management differ?
- caput succedaneum is a soft tissue swelling of the scalp and may cross suture lines
- cephalohematoma is a subperiosteal hemorrhage and thus won't cross suture lines
- both will improve gradually without intervention
27
Describe Erb palsy and how it should be managed in the newborn period.
- it is an injury of the C5-C6 nerve roots commonly associated with shoulder dystocia
- it presents with waiter's tip, an adducted, internally rotated, and pronated arm
- immobilization is the best treatment
28
Describe Klumpke palsy and how it should be managed in the newborn period.
- it is an injury of C7-T1 nerve roots and presents with claw hand and Horner syndrome
- immobilization is the best treatment
29
How should clavicular fracture be managed in newborns?
- diagnose with an x-ray
| - immobilize and splint the injury and refer to PT
30
Under what circumstances is delivery likely to contribute to facial nerve palsy and how should it be treated?
- it is usually secondary to forcep use during delivery
| - management consists of observation as most cases resolve without surgical intervention
31
What are two possible fetal causes of polyhydramnios?
- Werdnig-Hoffman syndrome and the inability to swallow
| - intestinal atresias
32
What are two possible fetal causes of oligohydramnios?
- renal agenesis
| - prune belly
33
What is prune belly and how should it be managed?
- it is a lack of abdominal muscles in newborns
- it often manifests as oligohydramnios since they are unable to bear down and urinate
- treatment is with serial Foley catheter placements
34
Describe the diagnosis and management of meconium aspiration syndrome.
- the diagnosis is suggested by meconium-stained amniotic fluid and respiratory distress
- CXR demonstrates patchy infiltrates, coarse striking of both lung fields, and a flattened diaphragm
- treat with airway management, inhaled NO, surfactant therapy, and ECMO depending on the severity
35
Describe the presentation, diagnosis, and management of necrotizing enterocolitis.
- the greatest risk factor is premature delivery
- it presents in these individuals with changes in feeding tolerance, abdominal distention, bilious vomiting, rectal bleeding, and diarrhea
- the best initial step for diagnosis is an abdominal x-ray showing pneumatosis intestinalis or hepatobiliary gas
- the best initial step for management is antibiotics: vancomycin, gentamicin, and metronidazole
- then make NPO with an NG tube; surgery may be required for perforation or failure to improve
36
What is an omphalocele and what other disease is it most associated with?
- it is a defect in which intestines form outside the abdominal cavity with a sac covering
- it is associated with trisomy 18
37
What is a gastroschisis?
a wall defect lateral to midline with intestines and organs forming beyond the abdominal wall without a sac covering
38
Which has a sac covering, gastroschisis or omphalocele?
omphalocele
39
Newborn umbilical hernias are strongly associated with what other disease? How should they be treated?
- strongly associated with congenital hypothyroidism
| - they should be surgical corrected if they don't resolve by age 4
40
Describe the presentation and diagnosis of a Wilms tumor.
- presents as a large, unilateral flank mass with hematuria and hypertension
- the best initial study is abdominal ultrasound but the most accurate is contrast CT
41
What are the features of WAGR syndrome?
Wilms tumor, Aniridia, Genital abnormalities, and mental/motor Retardation
42
Describe Beckwith-Wiedemann syndrome.
Wilms tumor, neonatal hypoglycemia, muscular hemihypertrophy, and organomegaly including the tongue
43
How are neurobalstomas diagnosed?
with increased VMA and metanephrines on urine collection
44
Describe the presentation and treatment of congenital hydrocele.
- it is a remnant of the tunica vaginalis
- presents with a swollen fluid-filled sac along the spermatic cords that transilluminates
- resolves within 6 months without intervention
45
What is the best initial test and what is the most accurate test for diagnosing varicocele?
- initial: physical exam
| - accurate: ultrasound
46
How should cryptorchidism be managed?
all cases should be surgically corrected as soon as possible to maintain fertility and before 2 years of age to reduce the risk of malignancy
47
What are hypospadias and epispadias associated with?
- hypospadias with cryptorchidism and inguinal hernias
| - epispadias with bladder exstrophy and urinary incontinence
48
Describe the moro reflex.
infants spread their arms symmetrically when scared
49
Describe the stepping reflex.
infants perform walking-like maneuvers when toes touch the ground
50
Describe the superman reflex.
infants arms go out when held facing the floor
51
What are the five etiologies for cyanotic congenital heart disease?
- tetralogy of fallot
- tricuspid atresia
- transposition of the great vessels
- truncus arteriosus
- total anomalous pulmonary venous return
52
Describe the etiology, syndrome, and presentation of Tetralogy of Fallot.
- it is due to an anterosuperior displacement of the infundibular septum
- this produces an overriding aorta, pulmonary stenosis, right ventricular hypertrophy, and a VSD
- presents as early cyanosis based on the degree of right ventricular outflow tract stenosis and relieved by squatting, a holosystolic murmur, and a boot-shaped heart on CXR
53
Why does squatting improve cyanotic spells in those with Tetraology of Fallot?
- the degree of cyanosis is dependent on the amount of right outflow tract stenosis
- squatting increases preload and afterload, which reduces the pressure gradient for right-to-left shunting
54
Describe the primary association, anatomy, presentation, and treatment for transposition of the great vessels.
- associated with maternal diabetes
- the aorta originates from the right ventricle and the pulmonary artery from the left ventricle, producing two separate circuits
- presents with early and severe cyanosis, a single S2, and a chest x-ray showing "egg on a string" sign
- patients are dependent on a PDA, so give PGE1; NSAIDs are contraindicated
55
Describe the anatomy, pathophysiology, presentation, and treatment of Truncus Arteriosus.
- a congenital cardiac anomaly in which a single large vessel arises from both ventricles after which the pulmonary and aortic circulations separation
- most problems result from the mixing of venous and arterial blood and from increased pulmonary blood flow
- presents with cyanosis, severe dyspnea, a single S2, and a systolic ejection murmur
- CXR shows cardiomegaly and increased pulmonary markings but echo is the best initial test
- surgery must be completed early to prevent pulmonary hypertension
56
Describe the anatomy and presentation of total anomalous pulmonary venous return.
- a congenital defect in which the pulmonary veins drain into the right heart
- associated with ASD and sometimes PDA to allow for right-to-left shunting and maintenance of cardiac output
- presents with a pulmonary flow murmur and cyanosis
57
Describe the anatomy, presentation, ECG findings, and treatment of tricuspid atresia.
- failure of the tricuspid valve orifice to develop; often associated with an atrial septal defect
- the lack of flow to the right ventricle leads to hypoplasia of the RV, pulmonary outflow tract, and pulmonary vasculature
- presents with cyanosis, left axis deviation, and small or absent R waves in precordial leads
- treat with PGE1 to maintain the PDA until surgery
58
Describe the epidemiology, murmur, presentation, and treatment of VSDs.
- the most common congenital heart defect and strongly associated with fetal alcohol syndrome
- presents with a holosystolic, harsh murmur at the tricuspid area and a fixed split S2; may eventually contribute to Eisenmenger syndrome
- smaller lesions typically resolve without intervention but larger defects require surgical closure
59
Describe the pathophysiology and presentation of Eisenmenger syndrome.
- it is the process whereby a left-to-right shunt reverses and becomes symptomatic
- this is because increased pulmonary flow contributes to pulmonary hypertension, which eventually becomes high enough to overcome left heart pressures
- presents with right ventricular hypertrophy, adult onset cyanosis, reactive polycythemia, and clubbing
60
Describe the murmur, complications, and diagnosis of ASDs.
- presents with a fixed split S2 and a diastolic murmur heard best at the tricuspid area due to the increased flow across this valve
- may be complicated by paradoxical emboli
- echo is the best first test but cath is most accurate
61
Describe the anatomy, presentation, and treatment of PDA.
- a failure of the ductus arteriosus to close within the first 24 hours of life, leaving a left-to-right shunt between the aorta and pulmonary arteries
- presents with a continuous, machine-like murmur and may progress to Eisenmenger syndrome with cyanosis of the lower extremities only (upper extremity perfusion preserved based on location of the shunt
- treatment involves indomethacin, which inhibits PGE1, and closes the duct
62
Describe the path of fetal circulation.
- oxygenated blood is delivered via the umbilical vein
- it by passes the hepatic circulation as it enters the IVC via the ductus venosus
- from there it is delivered into the right atrium and passes through the foramen ovale into the left atrium
- it fills the left ventricle and is pumped into the ascending aorta to supply the head and body
- deoxygenated blood from the superior vena cava returns to the right atrium and then fills the right ventricle
- it is pumped out of the pulmonary artery but diverted through the ductus arteriosus into the aortic arch
- blood in the aorta, then, is a mix of oxygenated and deoxygenated blood that passes through the body and exits the fetus via the umbilical arteries
63
Which valvular lesions radiate to the axilla, back, and neck?
- mitral radiate to the axilla
- tricuspid and pulmonic radiate to the back
- aortic radiate to the neck
64
For most congenital heart defects, the best initial test is what? What is the most accurate test?
- initial should be an echocardiogram
| - most accurate is a cardiac catheterization
65
What maintains and what closes the ductus arteriosus?
- PGE1 maintains it (prostaglandins pop it open)
| - indomethacin and other NSAIDs close it
66
Describe the anatomy and presentation of infantile coarctation of the aorta.
- a congenital narrowing of the aorta proximal to a patent ductus arteriosus, producing a right-to-left shunt
- presents during infancy with CHF, respiratory distress, and cyanosis
67
Describe the anatomy, presentation, diagnosis, and treatment of adult coarctation of the aorta.
- a congenital narrowing of the aorta associated with a bicuspid aortic valve rather than a PDA
- presents with hypertension in the upper extremities and hypotension with weak pulses in the lower extremities
- notching of the ribs is present on x-ray as collateral circulation develops and expands the intercostal arteries
- the most accurate test is cardiac catheterization
- should undergo surgical treatment with balloon angioplasty for any recurrent stenosis
68
Describe the etiology, presentation, most important complication, and treatment of long QT syndrome.
- most often due to inherited ion channel defects
- includes Romano-Ward and Jervell-Lange-Nielsen syndromes
- Romano-Ward is an autosomal dominant condition without extracardial symptoms
- Jervell-Lange-Nielsen syndrome is autosomal recessive and associated with sensorineural deafness
- treatment with beta-blockers reduces the risk for sudden cardiac death due to torsades
69
Describe the pathogenesis, presentation, and treatment of rheumatic fever.
- an autoimmune disease that follows strep pharyngitis as a result of molecular mimicry with the bacterial M protein
- presents with migratory polyarthritis, myo- and pericarditis, erythema marginatum, subcutaneous nodules, and chorea
- these are the JONES criteria: joints, heart, nodules, erythema marginatum, and sydenham chorea
- treat with penicillin to eradicate GAS and reduce the risk of chronic rheumatic heart disease
70
Describe the defect and management of rheumatic heart disease.
- a complication of untreated acute rheumatic fever
- the defining feature is mitral stenosis
- should receive chronic penicillin prophylaxis to reduce the risk of GAS pharyngitis recurrence and disease progression
71
Describe the pathogenesis, presentation, and diagnosis of vascular rings.
- secondary to abnormal development of the aortic arch, which may compress the trachea, bronchi, or esophagus
- presents with dysphagia and biphasic stridor that improves with neck extension; parents often say their child is a "noisy breather"
- diagnosis with CT or MRI and treat surgically
72
Describe the pathogenesis and presentation of Ebstein anomaly.
- it is a downward displacement of the tricuspid valve into the right ventricle secondary to maternal lithium use
- presents with a holosystolic murmur of tricuspid regurgitation and an ECG with tall P waves and right axis deviation
73
What is considered pathologic jaundice in the newborn?
- jaundice that appears in the first day of life
- total bilirubin that rises more than 5 mg/dL/day
- total bilirubin greater than 19.5 mg/dL
- direct bilirubin greater than 2 mg/dL
- hyperbilirubinemia beyond the second week of life
74
What is the difference between breastfeeding and breast milk jaundice?
- breastfeeding jaundice occurs in the first week of life and is usually due to suboptimal milk intake which leads to decreased passage of stool and decreased bilirubin excretion
- breast milk jaundice occurs after the first week of life and is due to high levels of B-glucuronidase in the milk which enhance enterohepatic circulation
75
How is neonatal hyperbilirubinemia treated?
- physiologic jaundice is simply observed
- for pathologic jaundice, phototherapy is first-line
- exchange transfusion is used for suspected bilirubin encephalopathy or failure of phototherapy
76
Describe the pathophysiology, acute phase, chronic phase, and treatment of bilirubin-induced neurologic dysfunction.
- due to the deposition of unconjungated bilirubin in the brain, particularly the basal ganglia
- in the acute phase it presents as altered mental status, a high-pitched cry, poor sucking reflex, and hypertonia
- in the chronic phase known as kernicterus, it presents with choreoathetoid cerebral palsy, hearing loss, gaze palsy, and seizures
- treat with emergent exchange transfusion
77
Gilbert syndrome is due to what?
a deficiency of uridine diphosphoglucuronic-glucuronosyltransferase 1A1
78
Describe the presentation and best initial test for TEF.
- presents with a history of polyhydramnios and vomiting with respiratory distress at the time of first feeding
- cyanosis can occur secondary to laryngospasm, which occurs to avoid reflux-related aspiration
- the best initial test is a CXR showing air in the stomach and esophagus; any NGT is likely coiled in the esophageal pouch
79
What is the best initial test for pyloric stenosis? Wha tis the most accurate test?
- best initial test is abdominal ultrasound
| - most accurate is an upper GI series
80
What will the upper GI series show in an infant with pyloric stenosis?
- string sign: thin column of barium leaking through the pylorus
- shoulder sign: astral filling defect due to proximal prolapse of the pylorus
- mushroom sign: hypertrophic pylorus against the duodenum
- railroad sign: excess mucosa in the pyloric lumen results in two columns of barium
81
What is CHARGE syndrome?
- C: coloboma of the eye, CNS anomalies
- H: heart defects
- A: atresia of the choanae
- R: retardation of growth or development
- G: genital and urinary defects
- E: ear anomalies and/or deafness
82
Describe the pathophysiology, presentation, diagnosis, and management of choanal atresia.
- due to a membrane between the nostrils and pharyngeal space which prevents breathing during feeding
- patients will have cyanosis during feeding but be pink when crying; often associated with other CHARGE abnormalities
- the best initial test is to try to pass an NG tube; the most accurate is CT scan
- the first step in management is to secure the airway
83
Describe the pathophysiology, presentation, diagnosis, and treatment of Hirschsprung disease.
- an absence of ganglionic cells in the Auerbach plexus within the submucosa of the distal bowel
- it is strongly associated with RET mutations and Down syndrome
- presents with failure to pass meconium, an empty rectal vault, megacolon, and bilious emesis
- diagnosis requires a full-thickness suction biopsy
- treatment involves resection of the involved bowel
84
What are the VACTERL abnormalities?
```
Vertebral anoamlies
Anal atresia
Cardiovascular anoamlies
Tracheoesophageal fistula
Esophageal atresia
Renal anomalies
Limb anomalies
```
85
Describe the pathophysiology, presentation, diagnosis, and treatment of volvulus.
- a twisting of the bowel, which produces obstruction and ischemia; most often in the cecum of younger patients and sigmoid of older patients
- presents with vomiting, abdominal pain, and "currant jelly" stools
- the best initial test is abdominal x-ray
- the best initial therapy is endoscopic decompression with surgical decompression if this fails
86
Intussusception is associated with what two things?
Henoch-Schonlein purpura and the Rotavirus vaccine
87
Describe the proper diagnosis and management of intussusception.
- ultrasound is the best initial test
- follow this with a barium enema which can be both diagnostic and therapeutic
- if barium enema fails or perforation is suspected, move on to surgical correction
88
Describe the pathophysiology, presentation, diagnosis, and treatment of Meckel diverticulum.
- it is due to persistence of the vitelline duct and often contains ectopic gastric or pancreatic tissue
- it presents with painless rectal bleeding in an otherwise healthy infant
- the most accurate test for diagnosis is a technetium 99 scan, also known as a Meckle scan
- treat with surgical removal
89
Compare and contrast rotavirus, adenovirus, and norwalk virus infection.
all produce an infectious diarrhea
- rotavirus is most common in the winter; is accompanied by a viral prodrome, fever, and emesis; and lasts less than 7 days
- adenovirus is year round; is accompanied by a viral prodrome, fever, and emesis; and lasts less than 7 days
- norwalk is more epidemic; characterized by explosive diarrhea and cramping pain; and lasts only 1-2 days
90
Describe the pathophysiology and presentation of 17a-hydroxylase deficiency.
- this deficiency prevents production of cortisol and sex hormones; instead excess aldosterone is produced
- patients are hypertensive with hypokalemia
- males are born with ambiguous genitalia
- while girls are normal at birth, they fail to undergo sexual development or adrenarche and have amenorrhea
91
Describe the pathophysiology and presentation of 21-hydroxylase deficiency.
- this deficiency prevents the production of both cortisol and aldosterone; instead excess sex hormones are produced
- patients are hypotensive with hyponatremia, hyperkalemia, and hypochloremia
- males are normal at birth while females are virilized
92
Describe the pathophysiology and presentation of 11B-hydroxylase deficiency.
- this deficiency prevents the production of both cortisol and aldosterone; instead excess sex hormones are produced
- the phenotype is milder than 21-hydroxylase deficiency because deoxycorticosterone is produced and has some mineralocorticoid effects
- patients are therefore hypertensive with mild hypokalemia
- males are normal at birth while females are virilized
93
What lacks in each of the following:
- 11B-hydroxylase deficiency
- 17a-hydroxylase deficiency
- 21-hydroxylase deficiency
- 17a (1a): lack sex hormones and cortisol, have excess aldosterone
- 11B (1b): lack cortisol and aldosterone, have excess sex hormones and some deoxycorticosterone
- 21 (2): lack cortisol and aldosterone, have excess sex hormones
94
Describe the risk factors, diagnosis, and treatment of congenital hip dysplasia.
- risk factors are female sex, first born, breech position, family history, and oligohydramnios
- diagnose with ultrasound before 6 months of age and with radiographs after that
- treat with a Pavlik harness; surgery may be required
95
Describe the presentation diagnosis, and treatment of Legg-Calve-Perthes disease.
- aka idiopathic vascular necrosis of the femoral head
- presents with insidious hip pain, limp, positive trendelenburg, and restricted hip abduction and internal rotation; usually in an active, thin, male child
- diagnose with radiographs
- treat with surgery of both hips
96
Describe the presentation and diagnosis of slipped capital femoral epiphysis.
- presents with insidious hip or knee pain, altered gait, and an externally rotated hip on exam, usually in an obese adolescent male
- diagnose with radiographs
97
Describe the presentation of Rickets.
- a vitamin D deficiency that leads to poor bone mineralization
- presents with pigeon-breast deformity, frontal bossing, rachitic rosary, and bowing of the legs
- labs reveal hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase
- x-rays demonstrate "looser zones" also known as pseudofractures, epiphyseal widening, and metaphysical cupping/fraying
98
What are the three possible causes of Rickets?
- vitamin D deficiency
- vitamin D dependent (unable to convert 25-OH to 1,25OH)
- hypophosphatemic (innate kidney defect results in an inability to retain phosphate which prevents bone mineralization)
99
Describe the pathophysiology, presentation, and diagnosis of osteogenesis imperfecta.
- an autosomal dominant defect in type I collagen synthesis
- presents with repeated fractures, blue sclera, hearing loss, and opalescent teeth
- may be confused with child abuse, but in this case, bruising is absent
- the most accurate test for diagnosis is skin biopsy with analysis of collagen synthesis
100
Describe the presentation and diagnosis of osteoid osteoma.
- a benign tumor of osteoblasts surrounded by a rim of reactive bone
- they occur mostly in younger males in the cortex of long bones and present with pain that responds to aspirin and other NSAIDs
- imaging reveals a small radiolucent lesion
101
How does an osteoblastoma compare to an osteoid osteoma?
both are benign tumors of osteoblasts but, osteoblastomas are...
- greater than 2 cm in size
- arises most often in the vertebrae
- and present with pain that does not respond to aspirin
102
Describe the presentation and diagnosis of osteosarcoma.
- a malignant proliferation of osteoblasts
- presents with pathologic fractures or bone pain with swelling
- imaging reveals a destructive mass with a sunburst appearance that lifts the periosteum off the edge of the bone, creating Codman's triangle
103
Describe the diagnosis of Ewing-Sarcoma.
- a malignant proliferation of neuroectoderm cells, usually in the medullary cavity
- it typically arises in the long bones of males under 15
- has an onion-skin appearance on x-ray
- best test is looking for an (11;22) translocation in chromosome 15 from bone biopsy which also demonstrates small, round, blue cells
104
What is enthesitis-related juvenile idiopathic arthritis?
a disease characterized by tenderness wherever bone meets connective tissue, affecting children with the HLA-B27 genotype
105
Describe systemic-onset juvenile idiopathic arthritis.
it involves inflammation in one or more joints and is typically accompanied by a fever last at least two weeks, a salmon-colored macular rash, lymphadenopathy, serositis, and hepatic dysfunction
106
What are the criteria for diagnosing Kawasaki disease?
a fever lasting at least 5 days with four of the following:
- rash
- conjunctivitis
- mucositis
- cervical lymphadenopathy
- edema or erythema of the hands and feet
107
What is the treatment for Kawasaki disease and why?
give IVIG and aspirin to prevent coronary artery aneurysms
108
What four organisms are most commonly the cause of neonatal sepsis? What is the empiric treatment?
- most common are GBS, E. coli, S. aureus, and Listeria
| - treat with ampicillin and gentamicin
109
Describe the presentation, diagnosis, and treatment of congenital toxoplasmosis.
- presents with chorioretinitis, hydrocephalus, intracranial calcifications, and multiple ring-enhancing lesions
- best initial test is IgM to toxoplasmosis, most accurate is PCR
- treat with bactrim
110
Describe the presentation, diagnosis, and treatment of congenital syphilis.
- presents with rash on the palms and soles, snuffles, Hutchison teeth, saddle nose, and saber shins
- best initial test is VDRL or RPR and most accurate is FTA-ABS or dark field microscopy
- treat with penicillin
111
Describe the presentation, diagnosis, and treatment of congenital rubella.
- presents with PDA, cataracts, deafness, hepatosplenomegaly, thrombocytopenia, blueberry muffin rash, and hyperbilirubinemia
- it is a clinical diagnosis supported by maternal IgM status
- treatment is supportive
112
Describe the presentation, diagnosis, and treatment of congenital CMV.
- presents with periventricular calcifications with microencephaly, chorioretinitis, hearing loss, and petechiae
- best initial test is urine or saliva viral titers and most accurate is urine or saliva PCR
- treat with ganciclovir
113
Describe the presentation, diagnosis, and treatment of congenital herpes.
- presents with shock and DIC then vesicular skin lesions and finally encephalitis
- best initial test is a Tzanck smear and the most accurate is PCR
- treat with acyclovir
114
Describe the presentation and diagnosis of varicella.
- presents as multiple highly pruritic vesicular lesions beginning on the face
- best initial test is a Tzanck smear and most accurate is viral culture
115
Describe the presentation and diagnosis of measles.
- presents with the five C's: cough, coryza, conjunctivitis, cephalocaudal rash, and Koplik spots (gray macules on the buccal mucosa)
- most accurate test is measles IgM
116
Describe the etiology and presentation of erythema infectious.
- caused by parvovirus B19
| - presents with fever, URI, and slapped cheek rash
117
Describe the etiology and presentation of roseola.
- caused by HSV-6 and HSV-7
| - presents with fever and URI with a diffuse rash that appears following the resolution of fever
118
Describe the presentation of mumps.
presents with a fever and then parotid gland swelling with possible orchitis
119
Describe the presentation of scarlet fever.
it has a classic pentad of...
- fever
- pharyngitis
- cervical lymphadenopathy
- sand paper rash
- strawberry tongue
120
Describe the etiology, presentation, diagnosis, and treatment of malignant otitis externa.
- caused by Pseudomonas
- it is an invasive infection from the external auditory canal into the skull base, presenting with exquisite otalgia and otorrhea
- CT is the best initial test and biopsy is the most accurate
- treat with ceftazidime
121
What are the best initial and most accurate tests for foreign body aspiration?
- best initial: cxr
| - most accurate: rigid bronchoscopy
122
Describe the etiology, presentation, and treatment of croup.
- most often caused by parainfluenza virus or RSV
- presents with a barking cough, coryza, inspiratory stridor, and dyspnea worse with lying down; patients are often hypoxic at the time of presentation
- radiographs may show steeple sign but this is rarely done
- treat with steroids and racemic epinephrine
123
Describe the presentation, diagnosis, and treatment of epiglottis.
- presents with muffled voice, fever, drooling, tripod positioning, a refusal to lie flat, and a cherry-red epiglottis
- radiographs may show thumbprint sign but this is rarely done in the clinical setting
- treat with intubation and ceftriaxone; rifampin for close contacts
124
Describe the presentation, diagnosis, and treatment of pertussis.
- the catarrhal stage involves congestion and rhinorrhea
- the paroxysmal stage involves severe coughing episodes followed by gasps for air and vomiting, and they may lead to conjunctival petechiae
- diagnosis is made with PCR or ELISA for toxin
- treat with erythromycin or azithromycin in the catarrhal stage; otherwise, use supportive care and isolation
- treat close contacts with macrolides
125
What EEG finding is characteristic of:
- absence seizures
- partial seizure
- juvenile myoclonic epilepsy
- absence: 3-second spike and generalized wave discharge
- partial: spike and sharp waves
- JME: irregular spike-and-wave pattern
126
What are the symptoms of vitamin A deficiency and toxicity?
- deficiency: poor night vision and hypoparathyroidism
| - toxicity: pseudotumorcerebri and hyperparathyroidism
127
What are the symptoms of vitamin B2 (riboflavin) deficiency?
angular cheilosis, stomatitis, glossitis
128
What are the symptoms of vitamin B3 (niacin) deficiency?
pellagra: diarrhea, dermatitis, dementia, and death
129
What are the symptoms of vitamin B5 (pantothenic acid) deficiency?
burning feet syndrome
130
What are the symptoms of vitamin B6 (pyridoxine) deficiency?
peripheral neuropathy
131
What are the symptoms of vitamin C deficiency?
scurvy, including ecchymosis, bleeding gums, and petechiae
132
What are the symptoms of vitamin D toxicity?
hypercalcemia, polyuria, and polydipsia
133
How should child abuse be managed?
1. address medical or surgical issues
2. then report to child protective services
3. hospitalize if medical condition requires it, diagnosis is unclear, or there is no alternative safe place
4. get an emergency court order if parents refuse hospitalization
5. explain to parents that you have made a referral to CPS
134
Review Lysosomal Storage Diseases
Review Glycogen Storage Diseases
