Peds - kap Flashcards
(181 cards)
1
Q
Pt works with his hands and gets occasional cold sores. Presents with warts on his hand. Dx?
A
Herpetic whitlow
HSV 1 or 2
Tx - observation and analgesics
Usually self limiting
2
Q
Child with multiple infections has low IgG, IgA and IgM. Dx?
A
Bruton’s agammaglobenemia
Mutation in Bruton tyrosine kinase
Low or absent b cells -> panhypogammaglobulinemia
Infections typically start at 6 months of age
3
Q
Child presents with a painful red knee about a week after a sore throat. Dx and management?
A
Septic arthritis
Get an arthrocentesis STAT
Gram stain and sensitivity essential for successful treatment
high [PMN] suggests bacterial etiology
4
Q
Infant presents with floppiness, constipation, weak cry, drooling. Dx?
A
Infant botulism
COD = respiratory failure
Equine serum botulism antitoxin in babies over 1 year
5
Q
AV canal defect is associated with which genetic anomaly?
A
Trisomy 21
6
Q
Kid with recent camping history, sudden HA, fever, vomiting, lacy red rash. Dx and Tx?
A
Rocky Mountain spotted fever
Rickettsial dz
Doxycycline (allowed in a child despite age because this is a life threatening dz)
Chloramphenical second line
7
Q
Child being treated for otitis media presents following a seizure. Dx and testing?
A
Cerebral abscess - life threatening complication of otits media/sinusitis (fever, neuro deficits, HA, seizures)
Order a CT or MRI of the brain
8
Q
Which children should receive palivizumab?
A
RSV prophylaxis
RF’s - Bronchopulmonary Dz (BPD), premature birth, and hemodynamically signficant heart dz
9
Q
Meningitis pt with GNR rods growing on chocolate agar?
A
H. flu b
Usually in a pt with questionable vax hx
10
Q
Pt presents with well circumscribed erythematous rash with central clearing and hypopigmented patches. Dx and studies?
A
Tinea corporis (ringworm) Studies - KOH prep
11
Q
During delivery, if time between membrane rupture to birth is >18 hours, what is the baby at risk for?
A
neonatal sepsis (GBS, E. coli, Listeria, HSV, enterovirus)
12
Q
Newborn presents with bulging fontanel, grunting, tachypnea, cyanosis. Dx?
A
Neonatal sepsis
13
Q
What serious complication can arise from Varicella infection in the immunocompromised?
A
Pneumonia
Give acyclovir IV in immunocompromised Varicella patients to prevent this
14
Q
Rash iwth pink-red umbilicated papules. Spreads in linear streaks
A
Molluscum contagiosum (poxviridae) Linear streaks due to scratching
15
Q
Tx of otitis media?
A
10 days of po amoxicillin
Re-evaluate in 48-72 hour
16
Q
Child presents with FTT, developmental delay, frequent infections, oral thrush should be evaluated for?
A
HIV/AIDS
17
Q
What is postviral synovitis?
A
<1wk of joint pain, inability to bear weight, following viral infection or vax
18
Q
Child refuses to bear weight on his leg, localized tenderness, Xray - soft tissue inflammation. Dx?
A
Osteomyelitis
Most commonly Staph aureus
19
Q
What two conditions can cause a patent PDA?
A
- Maternal Rubella infection - also screen for deafness, cataracts, and cardiac dz
- Prematurity
20
Q
Child presents with rash that started on the head and spread down. Also has a red spot with central greying in the buccal mucosa. Dx?
A
Measles
Fever, cough, coryza, conjunctivits. Rash that spreads down.
Koplic spot - small red spot with bluish white center on the mucosal membrane. Usually 1-2 days before the rash
21
Q
Most common causes of meningitis in a newborn
A
GBS
E. coli
Listeria
22
Q
Maculopapular rash starting on the face and moving down the body. Incl rash within the mouth
A
Rubella
Can have interuterine transmission
23
Q
Inheritable immunodeficiency with low T and B cells and no thymic shadow.
A
Adenosine deaminase deficiency, SCID
Accumulation of products in the purine salvage system deactivates DNA synthesis and the immune system is sensitive
Tx - BM transplant
24
Q
Most common cause of meningitis in an infant under 3 months old
A
GBS (S. agalactiae)
25
Most common causes of Bell palsy
HSV, Varicella, EBV
| Tx - steroids and eye drops
26
Lymphadenopathy in a cat owner
Bartonella henselae
| Scratch, bite, or fleas of an infected cat
27
Kid has night time anal pruritis and positive scotch tape test
Enterobius vermicularis
| Tx - Mebendazole, albendazole
28
Kid presents with itchy flakey scalp and patches of alopcia. Dx?
Tinea Capitis
| Tx - Griseofulvin
29
Meningitis pt has a brain abscess. Etiology?
Citrobacter
| GNR, Tx with ampicillin
30
Motor function milestones for a 24 month old
Pick up objects without losing balance
Jumping up
kicking a ball forward
Going up or down stairs with support
31
Most common complication of a Very low birth weight infant (<1500g)?
Intracranial hemorrhage
| Occurs in ~33%
32
Typical PE findings in a infant exposed to Valproic acid in utero
Craniofacial anomalies (high forehead, epicanthal folds, broad and low nasal bridge, etc)
CV anomalies (ie coarctation)
Cleft lip
Meningomyelocele
33
Newborn with hypotonia, poor Moro reflex, low set ears, enlarged tongue, deflection of the fifth fingers. dx?
Trisomy 21
34
Premature infant with hydrocephaly and downward deviated eyes with retracted upper lids. Dx?
Germinal matrix hemorrhage
| highly vascularized lining of the ventricular cavities. Vulnerable to hypoxic insults in a premie
35
What would suggest if a baby was exposed to cocaine during pregnancy?
```
SGA
Microcephaly
Neurodevelopmental abnormalaties
Very irritable, inconsolable
High pitched cry
```
36
Child with hepatosplenomegaly, osteopenia, and flaring of the distal femurs. Dx?
Gaucher dz
ar lysosomal dz
Tx - glucosylcermidase replacement
37
Baby with hx of neonatal jaundice, URI's, and nasal polyps. Dx?
Cystic fibrosis
| Tx for acute exacerbation - IV ceftazidime with tobramycin
38
Developmental milestones for a 4 y/o
```
Draw a square
Count to 4
Identify 4 colors
4 to 5 word sentences
Draw a picture of a person with 4 parts
```
39
A kid w/ meningitis has CSF findings consistent with bacterial etiology but no organisms on gram stain. Dx and management?
TB meningitis
RIPE + prednisone
Fatal if not treated
40
What can cause a kid to develop a rash during a EBV infection?
Sometimes EBV is confused with strep and ampicillin is given. This triggers a maculopapular rash. D/c ampicillin and provide supportive care
41
Slap cheek rash
Parvo
| Tx - supportive
42
1st line tx for an atopic kid?
Topical emoliant
43
X linked dz where pts are susceptible to catalase + infections?
Chronic granulomatous dz
Defect in NADPH oxidase + catalase organisms -> diffuse granulomas
Staph, Pseudomonas, Serratia, Nocardia, aspergillus
Failt nitroblue tetrazolium test
44
Mom incidentally finds a mass while bathing her 3 y/o. Dx?
Wilm's tumor
Most common primary malignant tumor of childhood
Also look for HTN, anemia, and hematuria
45
DDx if renal tumors:
Bilateral
Tumor crossing the midline
B/l - Wilm's
| Tumor crossing midline - Neuroblastoma
46
What do you do with a child <5 y/o that has been exposed to TB?
Prophylactic Isoniazid
47
Rash + recent hiking hx + migratory arthralgias
Lyme dz
Get serologic testing
If < 8 y/o - amoxicillin
All others, doxycycline
48
Tx of scabies?
Permethrin cream applied o/n
| Wash all clothing
49
Amniotic fluid is bron and murky. Skin bx of neonate shows granulomas with central necrosis
Neonatal listeriosis
Confirm with blood and CSF cultures
Pleomorphic Gram + bacillus
50
Split S2
Murmur over Pulmonic and Tricuspid valve
RVH w/ impulse
ASD
Commonly presents with exercise intolerance in adolescence
L-R shunt is fixable but Eisenmenger syndrome is not
51
HR>180
Narrow QRS
Absent or abn P waves
SVT
stable - IV adenosine
Unstable - Cardioversion
52
Cardiogenic shock due to infection in a neonate
Viral myocarditis
| Most common: Coxsackie B and adenovirus
53
Most common congenital heart anomaly?
Aortic stenosis
Usually bicuspid valve
Crescendo-decrescendo Systolic ejection murmur over RSB and LVH
54
On PE neonate has precordial hyperactivity, loud S2, and weak pulses.
Hypoplastic left heart syndrome with closed PDA
| Dusky skin color during feedings
55
What can mimic appendicitis in a young child?
Meckel diverticulitis
Incomplete obliteration of the omphalomesenteric duct. Can also have painless rectal bleeding
Test - Meckel scan
Manage - excision
56
Rule of 2's in Meckel diverticulitis
```
2% of population
2x more likely in male
w/in 2 feet of ileiocecal valve
2" long
2% will develop complications
```
57
Etiology of SVT in a ped?
Wolff-Parkinson-White
| Ebstein anomaly
58
Downward displacement of an abn tricuspid valve into the RV
Ebstein anomaly
Increased volume of the atrium may lead to cyanosis. One or more accessory conduction pathways predisposes to arrhythmias (SVTs, WPW, a fib)
59
Most common cardiac anomaly in infants of DM moms?
Asymmetric septal hypertrophy
Septum in the LV is hypertrophied causing decreased systemic circulation and pulmonic congestion
Present in RDS due to decreased production of surfactant
Tx- supportive, will resolve over time
60
Murmur that is heard during times of stress (ie fever, infection, anxiety) in kids 3-7y/o
Innocent murmur
| Structures are NL but murmur is heard due to increased CO
61
What congenital malformations are associated with children born to women with uncontrolled DM?
Heart (VSD, transposition of the great arteries, dextocardia)
CNS (open neural tube defects)
Kidneys (low set ears)
Skeleton (rib and vertebral column malformations
62
If a baby has retinal hemorrhages, what must be ruled out prior to hospitalization or reporting to CPS?
Coag studies
63
Which primitive reflexes are the first to disappear (around 2-3 months of life)
Palmar grasp
| Rooting reflex
64
A baby that becomes cyanotic when feeding is suggestive of?
B/l choanal atresia
65
retinoscopic finding of cleft in the optic disc?
Coloboma
66
CHARGE syndome includes?
```
Colobomas
Heart Defects
Choanal atresia
Retardation (growth or mental)
Genitourinary abn
Ear anomalies
```
67
Cyanotic Diseases of the Newborn
```
The T's
Truncus arteriosus
Tricuspid atresia
Tetralogy of Fallot
Transposition of the great arteries
Total anomalous pulmonary return and pulmonary stenosis
```
68
What is risky about a woman that receives meperidine during delivery?
If baby is born 2-3 hours post administration, baby may have respiratory depression and require intubation. Give naloxone
69
What are the most common clinical features of fetal alcohol syndrome (FAS)?
Microcephaly
Short palpebral fissures
Midfacial hypoplasia
Possible cardiac defects
70
Most common cause of a neck mass appearing shortly after birth?
Torticollis
SCM tumor of infancy
Usually regress after 4-8 months w/o treatment
PT recommended to promote FROM of the neck
71
Infant can lift head to 90 degrees, eyes cross the midline, laughs, and slight awareness of parent. Age?
4 months
72
Infant can lift head to 45 degrees, follow to midline with eyes, vocalize, smile, state of half-waking conciousness. Age?
2 months
73
Infant can roll over, grasp, turn to voice, feed self, and differentiate b/w parent and not parent. Age?
6 months
74
Infant can sit up w/o support, pull to stand, pincer grasp, babble, indicate wants, stranger anxiety. Age?
12 months
75
Infant can walk, make a tower of two blocks, say 3 words, use a spoon and cup, temper tantrums, brings objects to parent. AGe?
18 months
76
If a family has a child with IDD due to Fragile X, what testing should be done on their other children?
Sisters should receive cytogenic testing
| Het females can have similar behavior and cognitive problems as those with ADHD
77
What is breast milk jaundice?
increase in indirect bili during the second week of life
Caused by glucuronyl transferase inhibitor in the milk of some mothers
D/c breast milk x 48 hours
78
Child failed to pass meconium in first 48 hours and has chronic constipation
Hirschsprung disease
defect in neural crest migration leading to absence of ganglioin cells
Distal intestinal obstructions
Suspect any time a child fails to pass meconium
79
Epigastric pain radiating to the back, fever, n/v
Pancreatitis
80
What is the treatment for imperforate anus in a neonate?
Diverting colostomy
81
Neonate with drooling and violent choking with their first feeds?
Esophageal atresia
| Often accompanied by tracheoesophageal fistula
82
Infant has episodes of distress interrupted with quiet playful peroids
Intussuscepation
| Air enema for those with symptoms less than 48 hours
83
new born optic exam revealed g/l gray-white opacities and no red light reflex. Dx?
Congenital cataract
| Caused by congenital rubella or galactosemia
84
How do you manage a vaccinated child with a dirty deep wound
Just clean and suture, no vax needed since he has had them within the last 10 years
85
Most common causes of meningitis in babies <3 months old
GBS
E. coli
Listeria
86
Child has itchy rash of the scap with small, oval, white nodules firmly attached to the hair shafts
Pediculus humanus capitis (head lice)
| Tx - lindane, pyrethrins + piperonyl butoxide, malathion, permethrin
87
Multiple shiny dome-shaped papules with central umbilications in a child w/ a hx of atopic dermatitis
Molluscum contagiosum
Viral
More common in pts w/ atopy, HIV, immunocomp
Common in childhood, can be sexually transmitted
Tx - none, self limiting
88
Management of bloody diarrhea with protozoa w/ ingested RBC's
entamoeba histolytica
Get an abdominal u/s for liver abscesses
Tx - metronidazole, follwed by paromyomycin or iodoquinol
89
New born had late decels and meconium stained amnio, low apgars, cyanotic and limp. Hours later child has seizure
Hypoxic-ischemic encephalopathy due to perinatal asphyxia
Causes low Apgar, abn conciousness, RDS, feeding difficulty, weak cry, poor tone, seizures
Late decels on FHM is a sign of hypoxia
90
Diaper rash is caused by
Irritant contact dermatitis (feces and urine)
| Tx - looser diaper, bth with mild soap, frequent diaper changes, low strength steroid cream
91
Pt has swollen lips and rash with erythematous patches with pale center after taking NSAIDS
Uticaria, angiodema
Rash lasts up to 24 hours
IgE mediated
92
What is a serious complication of juvenile RA?
Uveitis
| Get a slit lamp exam
93
Male neonate has failed to void in the first day of life. Palpable mass in the suprapubic area
Posterior urethral valves
Place a catheter to drain bladder
Voiding cystourethrogram is diagnostic
Tx - surgery in first few days of life
94
Initial Tx for a kid with nephrotic syndrome
Prednisone
95
Initial test for a kid you are suspicious of T2DM
Get a fasting glucose
96
Fever malaise parotitis
Mumps
Most common complication - meningoencephalomyelitis
Orchitis is less common in kids, more common in adults
97
On Xray a knee has nonspecific irregularities of the tubercle contour
Osgood-Schlatter
Common cause of anterior knee pain, associated with aports
Stress rxn at the insertion of the patellar tendon into the tibial tubercle causing osteochondritis
98
Pt has bone pain worse at night. Xray radiolucent nidus with surrounding reactive sclerotic bone
Osteoid osteoma
5-24 y/o
Can cause leg length discrepency
Tx - surgical excision
99
What is associated with T1DM
Celiac
| Initial screening should include IgA against tissue transglutaminase Ab
100
Infant has frequent vomiting, no diarrhea, dry mm
Intracranial HTN due to vasogenic edema
Caused by mass effect (tumor, abscess)
Tx - IV corticosteroid to lower the intracranial pressure
101
Serologic findings in ulcerative colitis?
Elevated p-ANCA (perinclear Antineutrophil cytoplasmic Ab)
| onset of bloody diarrhea, no skip lesions
102
Characteristics of Crohn's
Ulcers can form anywhere in the GI (including mouth)
More severe abd pain than UC (frequently worse in RLQ)
Transmural inflammation
Skip lesions
Granulomas
Fistulas
103
Febrile child with extensive blistery rash, flaccid blisters that seems to slide off with pressure
Staphylococcal scalded skin syndrome (SSSS)
Usually in children <5 y/o
Never involves intraoral mucosa
Tx - IV naf or oxacillin, IVF, keep skin moist with saline, emollients
104
Defect in fibrillin gene
Marfan syndrome
AD
Abnormalities in the eye, skeleton and cardiac system
Skin - striae
eyes - upward displacement (ectopia lentis), myopia
105
Which medication should be avoided in a kid w/ a viral illness?
Aspirin
106
Migratory polyarthritis + erythema marginatum + sub q nodules over affected joint
Strep
look for elevated ASO titer
Can also have chorea, carditis
tx - penicillin + aspirin
107
Is HCV passed through breast feeding?
No
108
Teething: when, how, where?
When - 6 to 8 months
How - bluish gums, poor feeding, drooling
Where - Mandibular central incisors com in first
109
Hormone finding in Turner's syndrome
High FSH, LH
Low estradiol
Because ovaries aren't responding
110
Grade IV systolic murmur radiating to the clavicle. Wide pulse pressure w/ bounding pulses
PDA
Consider ligation
"machine like murmur
111
Erythematous macules with purpuric centers on two or more mucosal surgaces
Stevens-Johnson syndrome, 10-29% of body involved
1 mucosal surface - erythema multiforme <10% of body involved
if >30% involved - toxic epidermal necrolysis
112
Premmie has poor weight gain and poorly formed bulky stools
Steatorrhea due to insufficient bile acid pool (common in premmies)
Provide formula with medium-chain triglycerides (not long) since these do not require bile acids for absorption
113
Following dental work, pt develops a new heart murmur
Strep viridians
| Subacute infective endocarditis, only affects heart valves with prior damage (congenital, rheumatic)
114
Pathophys of type 1 DM
AutoAb production against pancreatic Ag (glutamic acid decarboxylase)
115
How do you manage a baby born in meconium stained fluid?
1. Place in radiant warmer
2. Dry and stimulate the infant
if still depressed
3. Intubate
116
Retrograde flow of urine into the ureter/kidney before voiding
Vesicoureteral reflux (VUR)
caused by incompetent vesicoureteral valve
Many children outgrow, but some require surgery:
1. Breakthrough UTI while on Ppx abx
2. Renal scaring
3. Failure of VUR resolution
4. B/l and younger pt
117
Newborn has a weak cough, prolonged jaundice, hypotonia, slow respiratory effort, coarse facial features, enlarged fontanelles, poor feeding, somnolence, large tongue, constipation, dry skin, umbilical hernia
Congenital hypothyroidism
| Most common cause is thyroid dysgenesis
118
Newly adopted baby has diarrhea, scaly rash around the mucous membranes, nail dystrophy, growth restriction and recurrent bacterial/fungal infections
Zinc deficiency
| Important component in metalloenzymes
119
inflammation at the insertion of a muscle group
apophysitis
| Common in Osgood-Schlatter
120
When do kids receive the Varicella vaccine?
1st dose @ 1 year
| 2nd @ 4-6 years
121
How do you manage a pregnancy in a family w/ a previous child with CAH due to 21-hydroxylase deficiency
Give dexamethasone at no later than 6 weeks
It crosses the placenta to prevent virulization of females
Then do a CVS at 10 weeks to determine genotype and continue therapy if baby is female until genetic analysis can confirm absence of genes
122
How do you treat strep pharyngitis in a pt that is unlikely to be compliant with medications?
IM Benzathine penicillin G
123
What should you do for a kiddo hospitalized for a UTI that you suspect has puelo?
Renal U/S
Looks for hydronephrosis, renal abscess, urinary calculi, anatomic abnormalities
Get a Voiding cystourethrogram after the UTI has cleared to asses for vesicoureteral reflux (VUR)
124
Tx for pt with lead poisoning + encephalopathy
Blood lead level is at least 70 to have syx of Increased intracrainial pressure
Immediate hospitalize and parenteral tx with two chelators (EDTA, BAL, dimercaprol)
125
How do you tx lead poisoning w/o encephalopathy
Lead level 45-70
| po succimer outpt
126
Once a mother has a Down's baby, what is her increased risk of having another?
Mother's age related risk + 1%
127
Most common therapy for OSA in children?
Adenotonsillectomy
128
Which RF's increase risk of Developmental dysplasia of the hip
1. Vaginal delivery in breech
2. Females
Dysplasia - spectrum of conditions in which the femoral head does not sit in the acetabulum -> hip instability
129
Following URI, pt has morning stiffness, pain, and swelling in one or a few joints. Decreased ROM
Juvenile Rheumatoid arthritis
Oligoarticular if 4 or fewer joints are involved
+ ANA associated with good prognosis
130
Asplenic kids are at increased risk for?
```
Encapsulated organisms:
Strep pneumo
H. flu
N. meningitidis
Should receive pneumovax (23 valant) q5years
```
131
Asymptomatic child with ejection click that does not vary with respiration followed by an ejection murmur best heard at the apex and upper right sternal border w/ a suprasternal notch thrill
Bicuspid aortic valve -> mild aortic stenosis
132
Following a trauma baby has a mass in the groin, does not reach inguinal ring, light passes easily through the sac. Now what?
Do a U/s w/ doppler to exclude testicular torsion or hemorrhage
133
Immunodeficiency with low Ig's especially IgG
Common variable immunodeficiency
B cells proliferate into plasma cells
Recurrent sinopulonary, GI, and Giardia infections
134
Neurologic deficits and primary adrenal insufficiency secondary to accumulation of very long chain fatty acids
Adrenoleukodystrophy
X-linked
Defect in peroxismal membrane protein
Neuro - weakness/spasticity -> dementia, blindness, quadrapalegia
Adrenal -> hyponatremia, orthostatic hypotension, hyperkalemia
135
Child has deafness, long QT syndrome, and FHx of long QT
Jervell-Lange-Nielsen
| ar
136
Within minutes of birth, baby has cyanosis and metabolic acidosis
Transposition of the great arteries
Chest Xray = narrow mediastinum, narrow heart base, absence of pulmonary a.
"egg on a string"
137
Child is being evaluated for short stature and decreased growth velocity. Where do you start?
Bone age and blood levels of Insulin-like growth factor q (IGF-1) and its binding protein (IGF-BP3)
Child may require GH
138
Endocrine levels in Turners?
High FSH/LH due to ovarain failure
| Estradiol low
139
Cyanosis during feeds
choanal atresia
140
Most common cause of a acidosis with normal anion gap?
Acute viral diarrhea
- Loss of bicarb
- decreased renal excretion of acid
141
Most common cause of meningitis in a kid with VP shunt
Staph epidermidis
Biofilm
tx - vanco
142
Kid presents with allergic like syx and rash after taking cefaclor for the 3rd time in a year
serum sickness like reaction
| not true serum sickness because there aren't circulating immune complexes
143
Abdominal mass, urine catec holamines, positive MIBG study
Neuroblastoma
MIBG accumulates in catecholaminergic cells
Good prognosis
144
AD defect in fibrillin 1
Marfan
145
Congenital defects in infants born to diabetic mothers
```
CNS, cardiac anomalies
Small Left colon
Sacral agenesis (caudal regression syndrome)
Renal v. thrombosis (polycythemia)
Electrolyte abnormalaties
```
146
Tx of SVT
Adenosine
Cardioversion if you do not have IV access
Narrow QRS, P waves may not be visible
Long term therapy with Bblock or dig
147
Adolescent boy with painful limp, limited abduction and internal rotation
Legg-Calve-Perthes dz
Form of avascular necrosis
Dx with Xray
Tx - obs, PT, surgery but usually self-limited
148
Constipated baby, DRE leads to explosion of poop
Hirschsprungs
Failure of migration of neurocrest cells
Bx - no ganglia
149
IDD kid with choreathetosis, gout, self injury
Lesch-Nyhan
Dx - HPRT enzyme activity
Tx - supportive, try to prevent nephrolithiasis
COD - RF
150
Newborn with tachypnea, but no RDS
Transient tachypnea of newborn (TTN)
Caused by delayed resorption of fetal lung gluid
CXR - increase lung expansions, interstitial fluid in the fisures
Self resolves, give O2 as needed
151
Downward displacement of cerebellum and medulla through foramen magnum
Arnold Chiari type II
| Associated with syringomyelia and myelomeningocele
152
Definitive dx of foreign body aspiration
Rigid bronchoscopy
| Xray cant see everythin
153
How do you correct hypernatremia?
1. Bolus 20mL/kg of NL saline or LR
| 2. Give calculated solute and free-water deficits + daily maintenance over 48 hours
154
Tx for scabies
Permethrin cream o/n
155
Abd pain, abd mass, microscopic hematuria, mild HTN
```
Wilms tumor (nephroblastoma)
incidental finding in kids ~4y/o
```
156
Newborn, hypotonia, oblique palpebral fissures, simian crease, big tongue, white spots on iris
Down's
Complications: VSD, Hirschprung's, intestinal atresia, annular pancrease, imperforate anus, hypothyroidism, atlanto-axial instability, alzheimer's, ALL
157
Omphalocele, rocker-bottom feet, hammer toe, microcephaly, clenched hand
```
Edwards syndrome
Trisomy 18 (elect)
```
158
Holoprosencephaly, severe mental retardation, microcephaly, cleft lip/palate
```
Patau's syndrome
Trisomy 13 (puberty)
```
159
Adolescent female, no boobs, short, high FSH
Turner's
XO
Horseshoe kidney, coarctation, bicuspid aortic valve
Tx - estrogen
160
Tall lanky teen male with mild IDD, gyno, hypogonadism
Klinefelter's
161
Cafe-au-lait spots, seizures, large head
Neurofibromatosis
| AD
162
Mandibular hypoplasia, glossoptosis, cleft palate, w/ FAS or Edwards
Pierre Robin sequence
| "Bird face"
163
Broad square face, short, self injurious
Smith Magenis
| Deletion on Chr 17
164
Hypotonia, hypogonadism, hyperphagia, skin picking, agression
Prader Willi
| Deletion on paternal Chr 15
165
Seizures, strabismus, social w/ episodic laughter
Angelman
| Deletion on maternal Chr 15
166
Elfin appearance, friendly, increased empathy and verbal reasoning
Williams
| Deletion on chr 7
167
IUGR. hypertonia, distinctive facies, limb malformation, self-injurious, hyperactive
Cornelia de Lange
168
Microcephaly, smooth philtrum, thin upper lip, ADHD like behavior
FAS
169
Most common IDD in males. Macrocephaly, macroorchidism, large ears
Fragile X
| CGG repeats on X chromosome with anticipation
170
Short palpebral fissures, white forelock, deafness
Waardenburg syndrome
| AD w/ advanced paternal age
171
Kiddo w/ multiple OM's and PNA's, no tonsils. Low levels of all Ig's and B cells
Brutom agammaglobulinemia
X linked
infections start at 6-9 months
172
Pt has NL levels of B cells but low levels of all Ig's
Combined variable immune deficiency (acquired)
| Increased risk of lymphoma due to increased lymphoid tissue
173
Most common B cell defect, recurrent URI's, diarrhea
Selective IgA deficiency
| Anaphylaxis to blood containing IgA
174
Infant/neonate, Seizures, truncus arteriosis, micrgnathia
DiGeorge syndrome
Microdeletion on Chr 22
Frequent candida, viral illness, PCP pneumo
175
Infant w/ severe bacterial, viral, and opportunistic infections. No thymus or tonsils
SCID
Deficiency in ADA, ar
Peds emergency. Need a bone marrow transplant before age 1
176
Male toddler with recurrent swollen lymph nodes in groin and staph aureus skin abscesses
Chronic granulomatous dz
PMN's ingest but do not kill catalase + bugs
Dx - Nitrotetrazolium blue (yellow = +) or flow cytometry with DHR-123
177
Infant with severe eczema, petechiae, ear infections
Wisckott-Aldrich syndrome
Presents with prolonged bleeding after circumcision
Low IgM, IgA, IgE, low to NL IgG
178
The leading known cause of autism
Fragile X
| Also most common cause of IDD. If you see both in a tall male with a long face, square jaw -> fragile X
179
Boy w/ hematuria, hearing loss, FHx with the same
Alport syndrome
Progressive glomerular dz w/ sensorineural hearing loss (never congenital) and ocular abn (anterior lenticonus -> extrusion of central portion of lens into the anterior chamber, pathgnomonic).
Dx based on FHx and syx, skin bx, renal bx (mesengial proliferation, capillary wall thickening -> glomerular sclerosis)
X-linked
180
kid w/ head trauma w/o LOC and NL neuro exam
Just have parents observe for neurologic status changes x 24 hrs (somnolence, vomiting, seizures, severe HA)
181
If you suspect entamoeba histolytica order
U/S, Serum Ab tests
| Tx - metronidazole
