Review Flashcards by Ryan Holton

Features of Infantile Spasm

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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X-linked recessive conditions

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

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X-Linked Dominant Conditions

X-linked hypophosphatemic rickets
Pseuohyperparathyroidism
Aicardi Syndrome
Alport Syndrome

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Autosomal Dominant Conditions

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

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Autosomal Recessive Conditions

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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Imprinting Disorders

Prader-Willi
Beckwith-Wiedemann
Russell-Silver
Angelman

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Features of Noonan Syndrome

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

Marfan -> up
Homocysteinuria -> down

Think: Matt Holton does Up-Downs all day

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Features of Trisomy 18

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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Features of Trisomy 13

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

CUTIS APLASIA

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Cancer risks in Klinefelter Syndrome (47 XXY)

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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Features of Beckwith Wiedemann Syndrome

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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Rubinstein-Taybi Syndrome

Broad thumbs

Cryptorchidism

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Shwachman-Diamond Syndrome

Exocrine pancreatic insufficiency
Skeletal abnormalities
Neutropenia
Short stature

Autosomal recessive inheritance

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

Alcohol
Cocaine
Tobacco

Neurohormonal associations: high dopamine, low serotonin, low GABA

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Achondroplasia - associated complications

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

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Pierre Robin Sequence

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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Exchange transfusion criteria for neonatal polycythemia

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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Features of CHARGE

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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Primary lactase deficiency

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Commonly occurs in adolescents and adults

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

Metabolic cause of cataracts

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Galactosemia
Diabetes
Hypoparathyroidism
Hypoglycemia
TORCH infections

What syndrome is associated with

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

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Klippel-Fiel Syndrome

Features of hereditary hemorrhagic telangiectasia

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

Common childhood presentation: headaches and nosebleeds

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

Diagnosis? Treatment?

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

Treatment: phosphorus supplementation, calcitriol

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

Achondroplasia AD inheritance, risk for spontaneous mutation is <1%

``` 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 ```

Treacher Collins Usually have above average intelligence Apert Syndrome also presents with midface hypoplasia, but usually also have brachycephaly, hypertelorism, choanal stenosis

Hepatomegaly, fasting intolerance, doll-like face Labs: lipemia, lactic acidosis, elevated uric acid

GSD 1

Treatment for familial LPL deficiency

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

``` Microcephaly Intracranial subcortical calcifications Brain malformations Retinal/optic nerve abnormalities Spasticity and hyperreflexia ```

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

Medications implicated in pseudotumor cerebri

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

Management of isolated sinus fracture

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

In which disorders are the following found/ 1) Iris Lisch Nodules 2) Posterior subcapsular lens opacity

1) NF1 | 2) NF2

Proximal hypospadius + cryptorchidism

Consider intersex conditions | Workup: pelvic ultrasound, karyotype, electrolyte screen for CAH

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

TEC - transient erythroblastopenia of childhood

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

WAGR - Wilms Tumors - aniridia - GU malformations (cryptorchidism) - Intellectual disability WT1 gene deletion on 11p13

Antibiotic contraindicated in breastfeeding women

Tetracycline | Aminoglycosides and chloramphenicol are avoided, but no absolutely contraindicated

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

WAGR - Wilms Tumors - aniridia - GU malformations (cryptorchidism) - Intellectual disability WT1 gene deletion on 11p13

``` Midface hypoplasia Cleft palate Pierre Robin Sequence Hearing Loss Myopia (eye abnormalities) ```

Stickler syndrome

Calculate fluid deficits in burn patients

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

Scoliometer angle at which radiographs are indicated in

7 degrees or greater

Calculate fluid deficits in burn patients

``` Hyperuricemia/hyperuricosuria Gross motor developmental delay Self-injurious behavior Developmental delay Unusual motor movements: dystonia, choreoathetosis, opisthotonos ```

Lesch-Nyhan syndrome X=linked recessive (HPRT1)

Testing dihydroxy-rhodamine123 reduction is for which condition?

Chronic Granulomatous Disease Measurement of oxidative burst

Does atomoxetine affect blood pressure?

Yes Can cause hypertension

``` 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 ```

Wolf-Hirschhorn syndrome 4p- deletion

Nystagmus Torticollis Head titubation (bobbing)

Spasums nutans Presents within first year of age Resolves during childhood

Acrodermatitis enteropathica improves with what treatment?

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

What does MELAS stand for?

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes Look for childhood-onset myopathy, seizures, recurrent vomiting, migranous headahces, SNHL

Review Flashcards

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