Ching-Ching Pediatrics Flashcards
Anterior neuropore fusion defects
Anechephaly, encephalocele
Posterior neuropore fusion defects
Spina bifida, myeomeningocele
Risk factors for neural tube defect
Folate deficiency, AEDs, maternal diabetes, vitamin A and vitamin A analogues toxicity
Signals for neural tube differentiation
From mesoderm of notochord: sonic hedgehog
From lateral epidermal ectoderm: bone morphogenic protein
Cell of origin of CNS
Ectoderm, from neural tube
Cell of origin of PNS
Ectoderm, neural crest cells
Cell of origin of vertebral bodies
Mesoderm of notochord
Balloon cells
Focal cortical dysplasia, a cortical development disorder of cell dysplasia (proliferation) - if FCD with normal cells, this is a disorder of cortical organization
Holoprosencephaly
Failure of prosencephalon to divide into cerebral hemisphere and other structures. Problem during 4-8 week of gestation.
Reduced visual acuity, panhypopituitarism, absent septum pellucidum
Septo-optic dysplasia
Smooth brain, small chin, thin upper lip, intractable seizures
Lissencephaly type I: Miller-Dieker syndrome, LIS1 gene, chasm 17, disorder of microtubulins and dynenin
Most cases occur de novo
DCX gene (doublecortin protein) abnormality: phenotype, mode of inheritance
X-linked lissencephaly, DCX gene, X-linked: gene mutations lead to smooth Brainin males, double cortex in females
3 disorders associated with cobblestone malformations
Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular dystrophy
Molar tooth sign
Joubert’s syndrome and other disorders of cerebellar hypoplasia
Inappropriate laughter, arm flapping, ID, seizures, prominent jaw
Angelman’s syndrome
Childhood obesity and ID
Prader-Willi syndrome, Laurence-Moon syndrome
Genetic disorder in Prader-Willi and Angelman’s syndrome
Chromosome 15q11-q13. Prader-Willi when paternally inherited due to maternal imprinting and Angelman’s syndrome when maternally inherited due to paternal imprinting
ID, protuberant ears and large testes
Fragile X, CGG trinucleotide repeat expansion (mnemonic: Child with Giant Gonads)
Development regression at ~6-18 months with hand wringing and microcephaly in female
Rett’s syndrome, MECP2 mutations, CDLK5 mutations result in Rett-like symptoms with earlier onset mutations
Cafe au lait macules
NF1
Shagreen patch
Tuberous sclerosis complex
Shagreen patch
Tuberous sclerosis complex
Cutaneous neurofibromas
NF1
Gene in NF2
MERLIN gene, chsm 22
Gene in NF1
Neurofibromin gene, chsm 11
Axillary or inguinal freckling
NF1
Bilateral schwannomas
NF2
Lisch’s nodules
Iris hamartomas, NF1
Subependymal giant cell astrocytoma
TSC
Sphenoid wing dysplasia
NF1
Ashleaf spots
Hypomelanotic lesions, TSC
Lymphangiomyomatosis
TSC, F>M
Tx that may inhibit growth of hamartomas in TSC
Rapamycin and its analogues
Multiple intracranial AV malformations
Hereditary hemorrhagic telelanglectasia or Osler-Weber-Rendu (ENG gene, AD)
Hypopigmented streaks that follow skin lines
Hypomelanosis of Ito
Dental enamel pits
TSC
Hyperpigmented cutaneous lesions and leptomeninges melanoma
Neurocutaneous melanosis
Hemifacial atrophy
Parry-Romberg syndrome
Multiple endochondromas and secondary hemangiomas
Maffuci’s syndrome
‘Retinal, cerebellar, and spinal hemangioblastomasa; chromosome, mode of inheritance
von Hippel-Lindau, VHL gene, chsm 3, AD
*Also see pheochromocytoma and pancreatic endocrine tumors
X-linked dominant disorder with skin lesions and variable neurologic involvement; gene
Incontinentia pigmenti; NEMO gene
Freckles, multiple skin and systemic malignancies, neuropathy, ataxia, cognitive decline; pathophysiology
Xeroderma pigmentosa, due to defect in DNA repair leading to sensitivity to UV light
Brittle hair, bilateral subdural hematoma, developmental delay, cause
Menkes disease (kinky hair syndrome); copper deficiency due to copper transporter ATP7A mutation
Epileptic encephalopathy and low-CSF glucose level
Glucose transporter type 1 deficiency, GLUT 1 transporter, SLC2A1 gene, DeVivo syndrome
Developmental delay, dysmporhic features, inverted nipples and prominent fat pads, carbohydrate deficient transferrin in the CSF
Congenital disorders of glycosylation
Urine with musty odor
PKU
Cystathionine-beta-synthase deficiency
Homocystinuria
Accumulation of branch chained amino acids: leucine, isoleucine and valine
Maple syrup urine disease
ID, aggressiveness, self-mutilaiton, hyperuricemia with gout and nephrolithiasis
Lesch-Nyhan: Hypoxanthine guanine phophorlbosyltransferase deficiency
Gaucher cells: “wrinkled tissue paper” cells
Gaucher’s disease, glucocerebrosidase deficiency
Globoid cell
Krabbe’s disease: galactocerebroside-beta-galactosidase deficiency
Beta-galactosidase deficiency
GM1 gangliosidosis
Hexosaminidase A deficiency
Tay-Sachs disease
Hexosaminidase A and B deficiency
Sandhoff’s disease
Acid sphingomyelinase deficiency
Niemann-Pick types A and B
Disorder of cholesterol trafficking in the intracellular domain
Niemann-Pick type C
Arylsulfatase A deficiency
Metachromatic leukodystrophy
Angiokeratomas, renal failure, hypertension, strokes, autonomic dysfunction
Fabry’s disease, alpha-galactosidase deficiency
Symmetric white matter involvement, posterior predominant and sparing the U-fibers
X-linked adrenal leukodystrophy
Megalencephaly, symmetric white matter disease, involving the U-fibers, NAA peak on MR spectroscopy
Canavan’s disease: aspartoacylase deficiency
Megalencephaly, symmetric white matter involvement predominantly in the anterior regions, Rosenthal fibers on histophatology
Alexander’s disease, mutation in GFAP
White matter demyelinating with “tigroid” appearance sparing the U fibers
Enlarged orange-colored tonsils
Tangier
“Kinky” hair
Menkes
Kearns-Sayre syndrome
Get an EKG, if there is heart block, place a pacemaker
Kearns-Sayre syndrome
Feeding difficulties, vomitting, diarrhea, jaundice, HS, FTT, cataracts and reducing substrates in urine
Galactosemia
Triad of hyperammonemia, encephalopathy, and respiratory alkalosis
No e/o organic acidemias, normal AG, normal serum glucose
Urea cycle disorders
Newborn babies with ketoacidosis, anion gap, elevated propionic acid level in the blood
Propionic acidemia
Alopecia, skin rash, hypotonia, seizures, optic atrophy, hearing loss, and hyperammonemia
Biotinidase deficiency
Neuronal ceroid lipofuscinosis
Gryal calcifications in tram track appearance on MRI
Sturge-Weber syndrome
