Pediatrics section within UW Flashcards
1
Q
Gold standard for duchenne diagnosis?
A
Genetic testing. Shows deletion of dystrophin gene: Xp21
2
Q
Onset of Duchene vs Becker
A
Duchene by 2-3 years old, Becker 5-15 years old.
3
Q
What enzyme levels are reaised in DMD?
A
Serum creatine phosphokinase and aldolase
4
Q
Treatment for subluxation of radial head
A
Hyperpronation of forearm, supination of forearm and flexion of the elbow.
5
Q
What is the first and second most common posterior fossa tumor?
A
1) cerebellar astrocytoma 2) medullobastoma (cerebellar vermis)
6
Q
Posterior vermis syndrome is characterized by?
A
Truncal and gait ataxia
7
Q
Lesch Nyan syndrome secondary to deficiency in?
A
hypoxanthine-guanine phosphoribosyl transferase (HPRT). X linked recessive disorder. Enzyme is involved with purine metabolism.
8
Q
Sx of Lesch Nyan
A
First appears at 6 months w/ vomiting and dystonia. Then progressive mental retardation, choreoathetosis, spasticity, dysarthric speech, dystonia, self injury. Xs uric acid builds up leading to gouty arthritis, tophus formation and obstructive nephropathy
9
Q
IF you see a boy with gout, suspect?
A
Lesch Nyan (usually gouty arhritis manifests when you’re 50 )
10
Q
Marfan mutation of what gene
A
fibrillin 1 gene
11
Q
What vitamin has shown to improve morbidity and mortality in measles
A
Vitamin A. through immune enhancement as well as regeneration of GI and respiratory eptihelium
12
Q
Alpha adrenergic and beta adrenergic effects of epinephrine for asthma?
A
Alpha 1 adrenergic: vasoconstriction - increases blood pressure and decreases upper airway edema, reduces bronchial secretions, and mucosal edema. Beta 2 adrenergic: promotes smooth muscle relaxation, decreases systemic release of inflammatory mediators. These are effects of epinephrine.
13
Q
In cases of croup, you should administer what before considering intubation?
A
Racemic epiphephrine. Reduces need for intubation
14
Q
Metanephros is embryologic precursor for ?
A
Renal parenchyma
15
Q
Wilms tumor arises from which embryogenic structure?
A
Metanephros
16
Q
Three most common pediatric cancers?
A
Leukemia, CNS and neuroblastoma (TN says leukemia, CNS and lymphomas)
17
Q
Neuroblastomas arise from which embryonic structure?
A
Neural crest cells => precursor of adrenal medulla and sympathetic chains
18
Q
Most common location of neuroblastoma
A
Abdomen = adrenals or retroperitoneal ganglia
19
Q
For neuroblastoma what can be seen on CT scan and plain x-ray
A
calcifications and hemorrhages
20
Q
For neuroblastoma levels of what are elevated in serum and urine?
A
catecholamines and their metabolites (HVA and VMA)
21
Q
Mesoneprhos
A
seminal vesicles, epidiydmis, ejaculatory ducts, and ductus deferens
22
Q
Wilms tumor aka
A
Nephroblastoma
23
Q
Freidrich Ataxia?
A
A/R condition. Parents should get genetic counseling for prenatal diagnosis with affected child.
24
Q
Ppt of epiglotitis. Most concerning complication?
A
Rapid progression, drooling, sore throat, dysphagia, airway obstruction is most concerning complication.
25
Sudden LOC, disorientation, slow gain of consciousness?
Seizure
26
Post ictal paralysis aka
Todd's paralysis
27
Todd's paralysis
Post ictal condition that improves with restoration of motor function within 24 hours
28
What is micrognathia
Undersized jaw
29
Symptoms of Digeorge syndrome
CATCH 22. Cardiac anomalies (conotruncal defects, cyanotic CHD), Abnormal facies such as micrognathia and low set ears, Thymic hypoplasia (immunodeficiency, lymphopenia causing susceptibility to viral and fungal infections, poor T cell help could affect B cells and bacterial infections also), Cognitive impariment, Hypoparathyroid/hypocalcemia
30
Digeorge ngenetic abnormality?
Microdeltion of 22q.11
31
Recurrent infections starting at 6 months of age. Suspect?
Genetic defect in b cell maturation. At 6 months, maternal antibodies drop.
32
genetic defect in B cell maturation results in body inability to
Fight encapsulated organisms like Strep pneumo and h. influenza. Also lacks IgA and can't fight giardia well.
33
Underlying genetic defect in SCID
adenosine deaminase deficiency.
34
Gold standard for CF?
Sweat testing by Pilocarpine iontophoresis. Pilocarpine is a cholinergic drug that induces sweating. 2 separate tests that show greater than 60mmol/L confirms dx.
35
Hallmark features of CF?
Failure to thrive, oily stools, recurrent respiratory infections. Defective chloride transport always involves respiratory tract, sinuses and pancreas.
36
Common hip disorder seen in overweight adolescents
Slipped capital femoral epiphysis
37
Gold standard treatment for slipped capital femoraph epiphsysis
immediate surgical screw fixation
38
Hyper IgM syndrome caused by?
Defect in CD40 ligand on Th2 cells, therefore can't stimulate B cells to undergo immunoglobulin switch from B to others
39
Hyper IgM characterized by?
High IgM, low IgA and IgG and normal lymphocyte populations
40
Defects in humoral immune system manifested by?
Recurrent or severe sinopulmonary infections
41
Polycythemia can occur in SGA babies because?
increased RBC production in response to fetal hypoxia
42
Treatment of clubfoot should be treated immediately
Immediately
43
Hemophilic arthropathy?
Permanent joint disease due to long term consequences of hemarthrosis
44
Pathophysiology of hemophilic arthropathy?
iron/hemosiderin deposition leading to synovitis and fibrosis
45
Typical presentation of glucose 6 phosphatase deficiency
3-4 month old, hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, doll like face (Fat cheeks), thin extremities, short and big stomach due to hepatomegaly and big kidneys. Can also have seizures
46
Children that present with nocturnal vulvar itching should be examined for?
Pinworms and started on mebendazole
47
In prepubertal females, pinworm infection can present as?
Vulvovaginitis
48
Neonates that get chlamydia from mom can present with
Pneumonia (presents at 4-12 weeks with staccato cough) or conjunctivitis
49
Treatment for neonatal chlymadial conjunctivitis? Timeline (presents when)? Clinical ppt?
Oral erythromycin. Presents 5-14 days of life. Eyelid swelling, chemosis, and watery or mucopurulent discharge. blood tinged discharge is highly characteristic.
50
Topical erythromycin in neonates is good for?
prophylaxis against gonococcoal conjunctivitis and tx for other causes of bacterial conjunctivitis. DOES NOT PREVENT OR TREAT CHLAMYDIA. ORAL erythromycin is treatment of choice (oral not topical)
51
Tx for gonococcal conjunctivitis/presents when/clinical ppt?
aka ophthalmia neonatorum. IV or IM cefotaxime or ceftriaxone / 2-5 days / clinical ppt: marked eye swelling, profuse purulent discharge, corneal edema/ulceration (this is dangerous)
52
Myotonic muscular dystrophy - genetics?
A/D
53
Myotonic muscular dystrophy presentation
delayed muscle relaxation - grip myotonia, facial weakness, foot drop, dysphagia, and cardiac conduction anomalies. Cataracts, testicular atrophy, baldness
54
Newborns infected with chylamydia may present with
Conjunctivitis and pneumonia
55
Newborns infected with herpes present with?
Disseminated form of infection, localized CNS disease, localinzed infection of the skin, mouth and eyes
56
What is procalcitonin
acute phase reactant similar to CRP that is released in response to bacterial toxins
57
Sudden onset respiratory distress, no preceding illness, and focal findings on pulmonary exam in suggestive of?
Foreign body aspiration
58
Are chest x rays helpful in FBA?
Limited because object can be radiolucent
59
What is the treatment/mgmt for suspected foreign body aspiration?
Immediate bronchoscopy
60
B2 aka
Riboflavin
61
B2 found in
Meat, dairy, eggs, and green leafy vegetables
62
PPT of B2 deficiency?
Angular cheilosis, stomatitis, glossitis, normocytic normochromic anemia, seborrheic dermatitis
63
What is chemical conjunctivitis In neonate?
occurs in first day of life when silver nitrate is used to prevent neonatal bacterial conjunctivitis
64
Neonatal abstinence syndrome is caused by?
Withdrawal from opioids
65
Neonatal abstinence syndrome characterized by?
High pitched cry, sweating, poor feeding, irritability, tremors, seizures, tachypnea, poor feeding, vomiting, diarrhea.
66
Manifestation of leukocyte adhesion deficiency type 1
Absence of pus formation at infection sites, delayed cord separation (>30 days), poor wound healing, recurrent skin and mucosal bacterial infections, periodontitis, often necrotizing
67
What is leukocyte adhesion defieincy?
basically neutrophils can get out of vasculature and go to infection sites because they lack CD18, an essential component of integrins present on the surface of leukocytes
68
Lab results of leukocyte adhesion deficiency
Leukocytosis with neutrophil predominance. Cultures show staph aureus and gram neg bacilli, biopsy of infected tissue shows ifnlammatory infiltrate with no neutrophils
69
Rib notching is a specific finding for what kind of cardiac deformity?
Coarctation of the aorta. Caused by the dilation of the collateral chest wall vessels that forms between the hypertensive and hypoperfused blood vessels.
70
Classic triad of congenital toxoplasmosis
Chorioretinitis, hydrocephalus, intracranial calcifications
71
Classic triad of congnietal rubella
Sensoneuronal deafness, cataracts and congenital glaucoma, cardiac defects (PDA, ASD)
72
Patient with pancytopenia following drug intake, viral infection, or toxins?
Suspect aplastic anemia.
73
Presentation of SCID
Recurrent sinopulmonary infections, oral candidiasis, diarrhea, opportunisitc and viral infections
74
SCID diagnostic clinical features
Absent thymic shadow, absent lympho nodes and tonsils, lymphopenia, abnormal T, B1 and NK cells.
75
What is hypertelorism
Abnormally increased distance between two body parts.
76
5p deletion is what?
Cri du chat syndrome
77
Clinical ppt of cri du chat syndrome
cry of the cat, hypotonia, short stature, microcephaly with protruding metopic suture, hypertelorism, bilateral epicathanl folds, high arched plate, wide and flat nasal bridges
78
Trisomy 18 aka
Edwards syndrome
79
Trisomy 13 aka
Patau syndrome
80
Classic presentation for edwards syndrome
closed fists with 5th over 4th and index over 3rd, microcephaly, prominent occiput, micrognathia, and rocker bottom feet
81
Classic manifestation of HSP
Nonblanching purpura, renal involvement, GI involvement, and arthralgias/arthritis
82
Intususseption on U/S diagnosed by?
target sign on U/S
83
Risk of HSP?
GI stuff like hemorrhage or intususseption
84
CHARGE syndrome?
coloboma, heart defects, atresia of the choanae, renal anomalies, growth impairment, ear abnormalities/deafness
85
What is choanal atresia?
congenital nasal malformation = failure of the posterior nasal passage to fully canalize. CT scan shows narrowing at the pterygoid plate in posterior nasal cavity.
86
Clinical ppt of choanal atresia
well appearing child with intermittent cyanosis and distress when feeding that is relieved with crying.
87
Severe coughing paraoxysms can cause?
subcutaneous emphysema and even pneumothorax. Air leaks from the chest wall into subcutaneous tissues due to high intraalveolar pressure. Order chest x ray to rule out pneumothorax
88
Congenital lymphedema occurs due to
Abnormal development of lymphatic system. Leads to accumulation of protein rich interstitial fluid in the hands, feet and neck (Webbed neck in turner syndrome). This kind of lymphedema is non-pitting.
89
chronic granulomatous disease should be suspected in what kind of presentation?
Continuous infection by catalase positive organisms, unexplained infection with serratia marascens, aspergillus, burkholderia cepacia
90
chronic granulomatous disease due to?
Deficiency in NADPH oxidase, leading to recurrent infections with catalase positive organisms
91
Dx of chronic granulomatous disease is by
Nitroblue tetrazolium slide test, flow cytometry, cytochrome C oxidation
92
Common complication of sickle cell: right hip pain, gradual, restriction of abduction and internal rotation
Aseptic necrosis of the femoral head due to occlusion of end arteries supplying femoral head, bone necrosis, and eventual collapse of periarticular bone and cartilage
93
Genu varum
Outward bowing of legs
94
Cephalohematoma
Subperiosteal hemorrhage, no discoloration of overlying scalp, takes a few hours to develop because it's a slow process. Doesn't cross suture lines. Most cases resorb spontaneously within 2 weeks - 3 months.
95
Caput succadeneum
diffuse, sometimes echymotic swelling of the scalp. May extend across midline and cross suture lines
96
Erb duchenne palsy aka? What nerves get affected?
Waiters tip. Extended elbox, pronated forearm, flexed wrists and fingers, intact grasp reflexes. C5 and C6
97
Shoulder dystocia compliations
Fractured clavicle, fractured humerus, erb-duchenne palsy, Klumpke palsy
98
Klumpke palsy aka? What nerves can be affected and what ensues if this is the case?
Claw hand. C8 and T1. you can get horners sydnrome.
99
Pathognominic facial features for in utero exposure to alcohol
Small palpebral fissures, thin lip, smooth filtrum. Also microcephaly
100
Key physical findings for Fragile X and Downs syndroem
Fragile X: macroorchidism, long narrow face, prominent forehead and chin, large ears, macrocephay. Downs syndrome: low set ears, upslanting palpebral fissures, flat facial profile, may have increased neck skin, single transverse palmar crease, clinodactyly, large space between first two toes.
101
Double bubble on xray
Duodenal atresia
102
Triple bubble and gasless colon on xray
Jejunal atresia
103
Distended loops of bowel on xray
Hirschsprung
104
Hallmark finding on x ray of NEC?
Pneumatosis intestinalis (extravasation of gas into damaged bowel wall)
105
Jejunal atresia is due to?
Thought to occur due to vascular accident in utero that causes necrosis and resorption of the fetal intestine, sealing off and leaving behind blind proximal and distal ends of the intestine
106
In contrast to duodenal atresia, jejunal and ileal atresia are not a/w?
Chromosomal abnormalities
107
Risk factors for jejunal atresia
Cocaine and other vasoconstrive events/drugs
108
Confirmatory tests for SLE?
Anti smith antibodies and anti dsDNA antibodies
109
Coomb's test is dx test for?
Autoimmune hemolytic anemia
110
What test is more specific for diagnosis of syphilis?
FTA (fluorescent treponemal antibody test)
111
Next step for battery lodged in esophagus and why?
Immediate endoscopic removal to prevent esophageal ulceration and mucosal damage. If beyond that, usually observe and or follow up with X ray and see if it passes uneventfully.
112
Risk factors for shoulder dystonia
Maternal diabetes resulting in fetal macrosomia
113
Risk factors for neonatal displaced clavicular fracture
fetal macrosomia (maternal GD, post-term pregnancy), instrumental delivery (vacuum, forceps), shoulder dystocia
114
Triad of hemolytic uremic syndrome? PPT?
Acute renal failure, hemolytic anemia and thrombocytopenia. Suspect in patient who shows up with abdominal pain and diarrhea, followed by bloody diarrhea
115
HUS due to?
E coli O157:H7 toxin or shiga toxin (for majority cases. Can also be due to strep pneumo, viruses or drugs)
116
Pathophysiology of HUS?
Toxin binds, invades and destroys colonic epithelial cells, causes bloody diarrhea. Toxin enters systemic circulation, attaches and injures endothelial cells especially in kidney, and also releases endothelial cell products including platelet aggregating factor. Forms platelet/fibrin thrombi in multiple organs causing thrombocytopenia. RBCs are forced to enter occluded vesses resulting in fragmented RBCs and removed by the reticuloendothelial system (hemolytic anemia).
117
What is opisthotonos
Spasm of muscle causing backward arching of the head, neck and spine.
118
Neonatal tetanus is generally seen in what situations
Babies born to unimmunized mothers, following umbilical cord/stump infection.
119
Neonatal tetanus presents how?
Poor suckling and fatigue, followed by ridigity spasms and opisthotonos
120
Most common heart disease in Edwards syndrome? (Trisomy 18)
VSD
121
Galactosemia presentation
Failure to thrive, poor feeding, jaundice, hepatosplenomegaly, cataracts
122
Galactosemia?
a/R deficiency in galactose 1 phosphate uridyltransferase, leading to inability to process lactose/galactose.
123
Galactosemia treatment?
Elimination of galactose in diet. Most infants fed soy diet.
124
B1 aka
Thiamine
125
B3 aka
Niacin
126
B6 aka
Pyrodixine
127
B9 aka
Folate, folic acid
128
B12 aka
Cobalamin
129
What race boys are increased risk for fetal macrosomia (>4 kg)
Black boys
130
What is the tx and prognosis for Erb-Duchenne palsy from shoulder dystocia?
Tx: gentle massage and PT to prevent contractures. Prognosis depends on extent of nerve damange (C5, C6 and maybe C7 in Erb duchenne). Up to 80% of patients have spontaneous recovery within 3 months. If no improvement by 3-6 months, consider surgery
131
Upper motor neuron signs
Hyperreflexia, babinski, leg spasticity
132
Atlantoaxial instability presentation?
Sx occur due to compression of the spinal cord. Behavioral changes, torticollis, urinary incontinence, vertebrobasilar sx such as dizziness, vertigo and diplopia. UMN signs such as babinski, leg spasticity, hyperreflexia
133
Classic ppt of craniopharyngioma
Symptoms of ICP (headaches, vomiting), calcified lesion above the sella, bitemporal hemianopsia, presence of calcified parasellar lesion on MRI is almost pathognominic
134
Common associations with celiac disease?
Type 1 diabetes, dermatitis herpetiformis, poor absorption = iron deficient anemia
135
Diagnostic tests for celiac disease?
IgA anti-tissue transglutaminase antibody assay, upper GI endoscopy with small intestinal biopsy
136
Acute stroke syndrome after foreign body injury to soft palate likely due to?
Internal carotid artery compression (causes thrombosis that embolizes to brain and causes stroke) or dissection of internal carotid artery that causes ischemic stroke.
137
Solitary, painful, lytic long bone lesion with overlying swelling and hypercalcemia differential?
Langerhans cell histiocytosis and other neoplastic processes
138
Freidrich Ataxia ppt
1) neurologic (dysarthria, ataxia) 2) skeletal (scoliosis, foot deformities like hammer toes) 3) cardiac (concentric hypertorphic myopathy)
139
Most common causes of death
Cardiac and respiratory
140
In esophageal atresia with TEF, what does x ray show in terms of the naso gastric tube or oro gastric tube
tube will be in proximal esophageal pouch and can't go any further
141
If newborn chokes and coughs during first feeding, suspect?
Esophageal atreasia with TEF
142
Kids with esophageal atresia with TEF can develop what lung disease?
Aspiration pneumonia. Gastric fluid refluxes through distal esophagus into fistula into trachea and lungs
143
2 year olds and 3 year olds should build a tower of how many cubes
6 cubes and 9 cubes, respectively
144
Spirochete responsible for lyme disease
Borrelia burgdorferi from the ixodes tick
145
Breastfed infants are at decreased risk for
Otitis media, Gastroenteritis, respiratory illnesses, urinary tract infections and necrotizing enterocolitis
146
Contraindications to breastfeeding (on infant side)
galactosemia
147
immunofluorescence will show what in HSP?
IgA deposition in the mesangium
148
Herpangina clinical ppt
High fever and sore throat that may result in inability to swallow, sometimes necessitates IV hydration
149
Herpangina is caused by?
Throat infection caused by enteroviruses, especially coxsackie A
150
Risk factors for vitamin D deficiency
Darker skin, no sunlight exposure, breast fed babies
151
PPT of vit d deficiency
Genu varum, rachitic rosary, cupping and fraying of metaphyses, craniotabes
152
Indirect hyperbilirubinemia in the newborn is due to?
Increased bilirubin production, decreased bilirubin clearance, and increased enterohepatic recycling
153
Spondylolisthesis
development disorder caused by slipped forward vertebrae (usually L5 over S1). Results in chronic back pain and neurologic dysfunction.
154
spondylolisthesis ppt
back pain, neurologic dysfunction and step off at lumbosacral area
155
Which primitive reflex can persist in healthy children up to 2 years of age?
Babinski. May disappear in some by 12 months but can persisit till 2 years
156
Development dysplasia of the hip should be checked for by what maneuvers?
Barlow and Ortolani maneuvers.
157
TOC for babies 6 months and below for DDH?
Pavlik harness that keeps hips flexed and kneeds abducted.
158
Indication for ultrasonography or x ray after barlow and ortolani test?
If negative tests but these findings: Soft click, or leg length discrepancy or extended inguinal fold should promot ultrasound in less than 6 months and x ray in greater than (4 or greater than 6 months of age.)
159
Positive barlow and ortolani tests, next step?
Refer to peds ortho
160
What supplementation should be given to preterm infants
Iron, till 1 year of age
161
Alternative to venous catheterization in case of emergencies
Intraosseous cannulation. Preference for tibia since it's away from cardiac site incase rescuscitation needs to take place.
162
Thymus on X-ray of kid below 3 years of age
TRIANGULAR SHAPE ON THE RIGHT. RECOGNIZE IT. Referred to as the sail, has scalloped border and uniform density
163
LOCATION Of thymus
In anterior mediastinum, behind the sternum and in front of the heart, aortic arch and trachea
164
What happens to thymus at puberty
Thymus is usually replaced by fat after puberty, after production of T lymphocytes. Adults with mediastinal opacities should undergo further workup for pathology. Residual thymic tissue can undergo malignant transformation
165
Infants and kids >1 year and adults have cardiothoractic ratios of?
166
Classic triad of Kartageners
Recurrent sinuisits, bronchiectasis, and dextracardia
167
Primary issue in Kartageners
Cilia dysmotility. A/R condition
168
Remember that hearing impairment can look like developmental and behavioral disorders.
Remember that ADHD does not have social isolation or language developmental delays and that autism signs genearlly show up before 3 years of age.
169
Clinical ppt of measles
cough, conjunctivitis, coryza (inflammation of membranes lining the noise) and KOPLCK SPOTS ARE PATHOGNOMONIC
170
Dx of measles
Acute and convalescent serology of anti-measles IgM and IgG, polymerase chain reaction
171
Rubella vs Measles rash
Both spread cepahlo-caudally but the measles rash darkens whereas the rubella one doesn't
172
What is the most common anemia in premature and low birth weight infants?
Anemia of prematurity
173
Ppt of anemia of prematurity
Poor feeding, poor weight loss, tachypnea, tachycardia, pallor
174
Pathology of anemia of prematurity
Decreased RBC production, blood loss, and shortened RBC life span.
175
What does iron supplementation do in anemia of prematurity
It doesn't help the anemia right now because iron deficiency is not the cause of the anemia but it Is given so that there are stores for later erythropoeisis.
176
Immediate steps in patient with CDH?
Intubation and placement of gastric tube to prevent distention of bowel against the lungs/decompression the stomach and bowel.
177
Conjugated hyperbilirubinemia and hepatomegaly in neonate should raise suspicion for?
Biliary atresia
178
First step in evaluation of biliary atresia? What does it show?
Ultrasound. Absent or abnormal gallbladder
179
Treatment for biliary atresia
Kasai procedure (hepatoportoenterostomy) and liver transplant
180
Presentation of biliary atresia
Conjugated hyperbilirubinemia, pale stools, dark urine, hepatomegaly, jaundice. Initially well appearing but starts developing symptoms in 1-8 weeks.
181
In older children with recurrent intussusecption, what should be suspected?
Pathological lead point like Meckel's diverticulum
182
Leukocoria is what unless proven otherwise
Retinoblastoma. Refer to ophthalmologist
183
What are contraindicaitons to breastfeeding on moms side
Active substance use, chemo/radiation therapy, herpetic breast lesions, active untreated TB (they can breastfeed after 2 weeks of initiation of TB therapy), materinal hiv infection in developed countries, varicella infection
184
Acute otitis media characteristics?
Middle ear effusion and signs of eardrum inflammation. Fluid in the middle ear space limits eardrum mobility on pneumatic insufflation. Bulging eardrum most specific sign of eardrum inflammation.
185
Intraventricular hemorrhage is most commonly seen in?
Premature or low birth weight babies
186
Presentation of intraventricular hemorrhage babies?
Pallor, cyanosis, hypotension, seizures, focal neurologic signs, bulging or tense fontanel, apnea and bradycardia. However may be asymptomatic so newborns with predisposing factors need fontanel U/S
187
Incidence of IVH is inversely proportional to?
Inv proportional to birth weight
188
Applying silver nitrate to the eyes of newborn
Neonatal gonococcal opthalmia prevention
189
Fragile X phenotype
Prominent jaw, forehead, and nasal bridge with long and thing face, large protuberant ears, macroorchidism, hyperextensibility, high arched palate. Mild to moderate mental retardation, especially in boys
190
How does squatting improve TOF cyanosis?
Increases systemic resistance, decreases the right to left shunt and increases outflow through the pulmonary artery
191
What is metatarsus adductus
congenital foot deformity. There are 3 grades. First grade, overcorrects in abducted position. This one corrects spontaneously. Just reassurance to parents
192
what is waterhouse friedrichson syndrome. When can it present?
Fulminant vasomotor collapse and skin rash (large purpuric lesions on flank). Watch out for it in Waterhouse Friedrichson Syndrome.
193
Most common offending pathogens for AOM?
Bacterial - S. pnemoniae (25-40%), untypable Haemophilis influenzae (10-30%), Moraxella catarrhalis (5-15%)
194
Tx for AOM?
Empiric amoxicilin tid x 10days, second line amoxicillin-clavulanic acid x10day
195
RF for AOM?
cigarette smoke, allergic rhinitis, URI, craniofacial abnormalities, chronic middle ear effusion
196
Phenytoin side effects
Cardiac defects: VAPAC (VSD, ASD, PS, AS, coarctation), craniofacial anomalies, fingernail hypoplasia, growth deficiency, developmental delay, facial clefts
197
APGAR Scoring system. What score requires resuscitation
If under 7 may require resuscitation.
198
APGAR
Appearance, Pulse, Grimace, Activity, Respiratory Effort. Appearance: 0 -blue/pale 1 - Acrocyanosis 2 - pink all over; Pulse (Heart rate) - 0 - Absent 1 - 100 bpms; Grimace (Irritability): 0 - No response 1 -grimace 2 - cough/cry; Activity (tone): 0 - limp 1 - some flexion of extremities 2- active motion; Respiratory effort: 0 - absent 1 - slow, irregular 2 - good, crying.
199
In peds, locations of the most common CNS tumors?
60% infratentorial (cerebellum, midbrain, brainstem), 25% supratentorial
200
Most common CNS tumor histology
Astrocytomas for both infra and supra-tentorial.
201
Treatment for Kawasaki disease?
Aspirin and IVIG
202
Most serious complicaitons of Kawasaki
Coronary aneurysms, MI, and death
203
Presentation of cholesteotoma
Continued ear drainage despite abx. Leads to formation of retraction pocket in tympanic membrane that can be filled with granulation tissue and skin debris.
204
Most common cause of hip pain in children
Transient synovitis
205
How is transient synovitis treated?
Rest and ibuprofen. Usually no lab abnormalities
206
Bilateral hip xrays should be obtained in transient hip synovitis for?
Legg calve perthe disease.
207
What is legg-calves-perthes disease?
Characterized by insidious onset of hip or knee pain. Avascular necorosis of the femoral head. Classically affects males 4-10.
208
What happens in PKU?
Phenylalanine hydroxylase deficiency prevents conversion of phenylalanine to tyrosine leading to buildup of toxic metabolites that cause neurologic injury.
209
PKU presentation
Hypopigmentation (fair skin), seizures, mental retardation, eczema, mousy odor
210
Dx of PKU
Newborn screening (Tandem mass spectrometry) or if done later, quantitative amino acid analysis.
211
Treatment for PKU
phenlyalanine free diet, starting within first 10 days of life
212
Diamond backfan syndrome aka
Congenital hypoplastic anemia
213
Primary pathology in diamond backfan syndrome
Defect in erythroid progenitor cells leading to increased apopotosis
214
PPt for diamond backfan syndrome
Pallor. Macrocytic anemia, low retic count and congenital anomalies, short stature (webbed neck, cleft lip, shield trest, triphalangeal thumbs).
215
Howell Jolly bodies?
Nuclear remnants of RBCs. These are tradiotionally removed by spleen but patient with sickle sell with splenectomy or functional asplenia will have these in peripheral smear
216
Basophillic stippling
Ribosomal precipitates which appear as blue granules of various sizes. Disperpsed throughout cell cytoplasm. Seen in thalassemia, lead and heavy metal poisoning
217
Helmet cells
Fragmented RBCs. Can be seen in traumatic hemolytic conditions like DIC, HUS, TTP
218
Reduction/tx of radial head subluxation
supination with flexion at elbow, or hyperpronation of forearm
219
Red cell distribution width in iron deficiency anemias and thalassemias
RDW is generally greater than 20% in iron deficiency anemia, 12-14% in thalassemias
