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ABP Prep > Review > Flashcards

Review Flashcards

1
Q

Features of Infantile Spasm

A

AKA “West Syndrome”

Epilepsy, begins in infancy
Presents 3-7 months of age (90% of cases by 12 months)
Cardinal features: flexor, extensor, or mixed spasm, developmental regression/arrest
EEG: Hypsarrhythmia (distinct and chaotic pattern)

Associations: Down Syndrome, Tuberous Sclerosis Complex (ash-leaf macules)

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2
Q

X-linked recessive conditions

A 
Hemophilia A
Hemophilia B
G6PD
Nephrogenic DI
Chronic Granulomatous Disease
Duchenne Muscular Dystrophy
Androgen Insensitivity
Hunter Syndrome
Retinitis Pigmentosa
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3
Q

X-Linked Dominant Conditions

A

X-linked hypophosphatemic rickets
Pseuohyperparathyroidism
Aicardi Syndrome
Alport Syndrome

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4
Q

Autosomal Dominant Conditions

A 
Tuberous Sclerosis
Achrondroplasia
Retinoblastoma
Marfan syndrome
Apert syndrome
NF (though has high spontaneous mutation rate)
Branchio-Oto-Renal Syndrome
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5
Q

Autosomal Recessive Conditions

A 
Galactosemia
A1AT
Sickle Cell
Thalassemia
Hurler Syndrome
Ataxia Telangiectasia
Tay Sachs Disease
Wilson Disease
Adrenogenital Syndrome (Alpers Syndrome)
Kartagener Syndrome
PKU
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6
Q

Imprinting Disorders

A

Prader-Willi
Beckwith-Wiedemann
Russell-Silver
Angelman

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7
Q

Features of Noonan Syndrome

A 
Inverted Triangular Face
Low-set, posteriorly rotated ears
Pulmonary Valve Stenosis
Downslanting eyes
Hypertelorism
Epicanthal Folds
Deeply-grooved philtrum
Low posterior hairline
Developmental Delay/MR
Joint laxity
Coarse/curly hair
Short stature
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8
Q

Which way does the lens deviate in Marfan? In Homocysteinuria?

A

Marfan -> up
Homocysteinuria -> down

Think: Matt Holton does Up-Downs all day

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9
Q

Features of Trisomy 18

A

Rocker-bottom feet
Seizures
Clenched fist, overlapping fingers, hypoplastic nails
Prominent occiput, microcephaly, microophthalmia
Low-set, malformed ears
Severe growth/developmental delays

association with horseshoe kidney

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10
Q

Features of Trisomy 13

A 
Punched-out scalp lesions
Holoprosencephaly/microcephaly
Low set ears
Polydactyly
Bicornuate uterus
Cleft lip/palate
Cystic kidneys

CUTIS APLASIA

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11
Q

Cancer risks in Klinefelter Syndrome (47 XXY)

A

Gynecomastia –> increased risk of breast CA
Mediastinal tumors

Syndrome features

  • small testes/infertility
  • tall, thin
  • normal intelligence (~50% have delayed speech)
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12
Q

Features of Beckwith Wiedemann Syndrome

A

Chromosome 11 p15.5

Hypospadius
Omphalocele
Macroglossia
Macrosomia
Hypoglycemia (islet cell hyperplasia)
Hemihypertrophy
Renal anomalies

Embroynal tumor risk

  • rhabdomyosarcoma
  • Wilm’s tumor
  • neuroblastoma
  • monitor AFP, abdominal U/S at least Q3 mo until 8 y/o
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13
Q

Rubinstein-Taybi Syndrome

A

Broad thumbs

Cryptorchidism

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14
Q

Shwachman-Diamond Syndrome

A

Exocrine pancreatic insufficiency
Skeletal abnormalities
Neutropenia
Short stature

Autosomal recessive inheritance

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15
Q

Aggressive behaviors in children are linked to which substances used in the perinatal period?

A

Alcohol
Cocaine
Tobacco

Neurohormonal associations: high dopamine, low serotonin, low GABA

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16
Q

Achondroplasia - associated complications

A 
Serous Otitis Media
Delayed motor milestones
Leg bowing
Orthodontic problems
Spinal cord compression
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17
Q

Pierre Robin Sequence

A 
Glossoptosis
Posterior positioning of the tongue
Micrognathia
Cleft palate
Feeding difficulties
CNS involvement: speech delay, seizures, developmental delay

Look for extremity anomalies

  • syndactyly, clinodactyly, hip/knee anomalies
  • kyphosis, scoliosis
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18
Q

Exchange transfusion criteria for neonatal polycythemia

A

Hct >60% + symptoms
Hct >70%

Otherwise, observe`

Risk factors for neonatal polycythemia

  • Maternal tobacco use, DM, HTN
  • Trisomies 13, 18, 21
  • Graves disease or hypothyroidism
  • High-altitude birth
  • SGA
  • Gestational age >40 weeks
  • CAH
  • cyanotic CHD
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19
Q

Features of CHARGE

A

Major diagnostic criteria:
Ocular Colobomas
Choanal atresia
CN dysfunction (e.g. facial palsy, anosmia)
External ear anomalies/middle ear defects

Minor diagnostic criteria
Genital hypoplasia
Developmental delay
Cardiovascular abnormalities
Growth deficiency
Cleft lip/palate
TE fistula or esophageal fistula
Facial dysmorphology (square face, prominent forehead, flat midface)
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20
Q

Primary lactase deficiency

A

Commonly occurs in adolescents and adults

  • African Americans, Native Americans, and Asian Americans highest risk
  • symptoms of carbohydrate malabsorption: abdominal cramping, bloating, diarrhea, flatulence
21
Q

Metabolic cause of cataracts

A 
Galactosemia
Diabetes
Hypoparathyroidism
Hypoglycemia
TORCH infections
22
Q

What syndrome is associated with

  • `Congenital fusions of cervical vertebrae
  • Congenital heart disease
  • hearing loss
  • renal anomalies
  • congenital elevation of the scapula (Sprengel deformity)
A

Klippel-Fiel Syndrome

23
Q

Features of hereditary hemorrhagic telangiectasia

A

Autosomal dominant
AVMs in the liver, GI tract, brain, lungs, pancreas, and spinal cord

Common childhood presentation: headaches and nosebleeds

24
Q

Low phosphorus
Low vitamin D
Boy
Osteopenia, metaphyseal widening on X-ray

Diagnosis? Treatment?

A

X-linked hypophosphatemic rickets
- caused by renal phosphate wasting, impaired stimulation of 1-alpha-hydroxylase

Treatment: phosphorus supplementation, calcitriol

25
Q 
Disproportionate short stature
Proximal shortening of the long bones
Shortened fingers/toes
Macrocephaly, frontal bossing
"Trident" hand
A

Achondroplasia

AD inheritance, risk for spontaneous mutation is <1%

26
Q 
Maxillary, zygomatic, and mandibular hypoplasia
Downward-slanting palpebral fissures
Coloboma of lower eyelid
Absent eyelashes
Externa lear abnormalities
Middle-ear stenosis/atresia
Conductive hearing loss
A

Treacher Collins

Usually have above average intelligence

Apert Syndrome also presents with midface hypoplasia, but usually also have brachycephaly, hypertelorism, choanal stenosis

27
Q

Hepatomegaly, fasting intolerance, doll-like face

Labs: lipemia, lactic acidosis, elevated uric acid

A

GSD 1

28
Q

Treatment for familial LPL deficiency

A

strict nutrition therapy with total dietary fat restriction to less than 20 g/day

Look for severe hypertriglyceridemia, recurrent pancreatitis, HSM, and eruptive cutaneous xanthomata

29
Q 
Microcephaly
Intracranial subcortical calcifications
Brain malformations
Retinal/optic nerve abnormalities
Spasticity and hyperreflexia
A

Zika

Consider further evaluation with zika testing, head U/S, ophtho exam, hearing test (ABR)

30
Q

Medications implicated in pseudotumor cerebri

A

Vitamin A analogs (isotrentinoin)
Tetracyclines (doxycycline, minocycline)
Excess Vitamin A ingestion
Growth hormone

31
Q

Management of isolated sinus fracture

A

1 week of augmentin
F/u with ENT in one week
Sinus precautions (no straws, swimming, wind instrument playing)

32
Q

In which disorders are the following found/

1) Iris Lisch Nodules
2) Posterior subcapsular lens opacity

A

1) NF1

2) NF2

33
Q

Proximal hypospadius + cryptorchidism

A

Consider intersex conditions

Workup: pelvic ultrasound, karyotype, electrolyte screen for CAH

34
Q

Normocytic anemia
normal platelets/WBC
~2 years of age
Low reticulocyte count

A

TEC - transient erythroblastopenia of childhood

35
Q

What features are seen with GU malformations, intellectual disability, and abdominal mass?

A

WAGR

  • Wilms Tumors
  • aniridia
  • GU malformations (cryptorchidism)
  • Intellectual disability

WT1 gene deletion on 11p13

36
Q

Antibiotic contraindicated in breastfeeding women

A

Tetracycline

Aminoglycosides and chloramphenicol are avoided, but no absolutely contraindicated

37
Q

What features are seen with GU malformations, ID, and abdominal mass?

A

WAGR

  • Wilms Tumors
  • aniridia
  • GU malformations (cryptorchidism)
  • Intellectual disability

WT1 gene deletion on 11p13

38
Q 
Midface hypoplasia
Cleft palate
Pierre Robin Sequence
Hearing Loss
Myopia (eye abnormalities)
A

Stickler syndrome

39
Q

Calculate fluid deficits in burn patients

A

4 mL/kg x weight (kg) x BSA

Abdomen/chest and back = 18% each
Lower extremities (anterior and posterior) = 9% each
Upper extremities (anterior and posterior) = 4.5% each
Anterior and posterior head = 4.5% each
Genitals = 1%

Add this to the maintenance fluid requirement from the Holiday-Seger equation for total 24 hour requirement

40
Q

Scoliometer angle at which radiographs are indicated in

A

7 degrees or greater

41
Q

Calculate fluid deficits in burn patients

A

4 mL/kg x weight (kg) x BSA

Abdomen/chest and back = 18% each
Lower extremities (anterior and posterior) = 9% each
Upper extremities (anterior and posterior) = 4.5% each
Anterior and posterior head = 4.5% each
Genitals = 1%
42
Q 
Hyperuricemia/hyperuricosuria
Gross motor developmental delay
Self-injurious behavior
Developmental delay
Unusual motor movements: dystonia, choreoathetosis, opisthotonos
A

Lesch-Nyhan syndrome

X=linked recessive (HPRT1)

43
Q

Testing dihydroxy-rhodamine123 reduction is for which condition?

A

Chronic Granulomatous Disease

Measurement of oxidative burst

44
Q

Does atomoxetine affect blood pressure?

A

Yes

Can cause hypertension

45
Q 
Unusual facies ("Greek warrior" helmet nose, high anterior hairline, hypertelorism)
Prenatal/postnatal growth delay
Developmental delay
Hypotonia
Hearing loss
Antibody deficiency
Cardiac defects (ASD, PS, VSD)
Urinary tract anomalies
CNS malformations (corpus callosum thinning)
Epilepsy
A

Wolf-Hirschhorn syndrome

4p- deletion

46
Q

Nystagmus
Torticollis
Head titubation (bobbing)

A

Spasums nutans

Presents within first year of age
Resolves during childhood

47
Q

Acrodermatitis enteropathica improves with what treatment?

A

Zinc supplementation

Consider if rash is in diaper area, is scaly and inflamed, may have systemic sympomts (diarrhea, malabsorption, cerebral atrophy)

48
Q

What does MELAS stand for?

A

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

Look for childhood-onset myopathy, seizures, recurrent vomiting, migranous headahces, SNHL

ABP Prep (1 decks)

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