Review Flashcards
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)
X-linked recessive conditions
Hemophilia A Hemophilia B G6PD Nephrogenic DI Chronic Granulomatous Disease Duchenne Muscular Dystrophy Androgen Insensitivity Hunter Syndrome Retinitis Pigmentosa
X-Linked Dominant Conditions
X-linked hypophosphatemic rickets
Pseuohyperparathyroidism
Aicardi Syndrome
Alport Syndrome
Autosomal Dominant Conditions
Tuberous Sclerosis Achrondroplasia Retinoblastoma Marfan syndrome Apert syndrome NF (though has high spontaneous mutation rate) Branchio-Oto-Renal Syndrome
Autosomal Recessive Conditions
Galactosemia A1AT Sickle Cell Thalassemia Hurler Syndrome Ataxia Telangiectasia Tay Sachs Disease Wilson Disease Adrenogenital Syndrome (Alpers Syndrome) Kartagener Syndrome PKU
Imprinting Disorders
Prader-Willi
Beckwith-Wiedemann
Russell-Silver
Angelman
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
Which way does the lens deviate in Marfan? In Homocysteinuria?
Marfan -> up
Homocysteinuria -> down
Think: Matt Holton does Up-Downs all day
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
Features of Trisomy 13
Punched-out scalp lesions Holoprosencephaly/microcephaly Low set ears Polydactyly Bicornuate uterus Cleft lip/palate Cystic kidneys
CUTIS APLASIA
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)
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
Rubinstein-Taybi Syndrome
Broad thumbs
Cryptorchidism
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency
Skeletal abnormalities
Neutropenia
Short stature
Autosomal recessive inheritance
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
Achondroplasia - associated complications
Serous Otitis Media Delayed motor milestones Leg bowing Orthodontic problems Spinal cord compression
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
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
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)
Primary lactase deficiency
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
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)
Klippel-Fiel Syndrome
Features of hereditary hemorrhagic telangiectasia
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?
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
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%
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)
EpilepsyWolf-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
