Ching-Ching Pediatrics Flashcards by Emily Liu

Anterior neuropore fusion defects

Anechephaly, encephalocele

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Posterior neuropore fusion defects

Spina bifida, myeomeningocele

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Risk factors for neural tube defect

Folate deficiency, AEDs, maternal diabetes, vitamin A and vitamin A analogues toxicity

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Signals for neural tube differentiation

From mesoderm of notochord: sonic hedgehog
From lateral epidermal ectoderm: bone morphogenic protein

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Cell of origin of CNS

Ectoderm, from neural tube

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Cell of origin of PNS

Ectoderm, neural crest cells

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Cell of origin of vertebral bodies

Mesoderm of notochord

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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

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Holoprosencephaly

Failure of prosencephalon to divide into cerebral hemisphere and other structures. Problem during 4-8 week of gestation.

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Reduced visual acuity, panhypopituitarism, absent septum pellucidum

Septo-optic dysplasia

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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

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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

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3 disorders associated with cobblestone malformations

Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular dystrophy

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Molar tooth sign

Joubert’s syndrome and other disorders of cerebellar hypoplasia

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Inappropriate laughter, arm flapping, ID, seizures, prominent jaw

Angelman’s syndrome

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Childhood obesity and ID

Prader-Willi syndrome, Laurence-Moon syndrome

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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

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ID, protuberant ears and large testes

Fragile X, CGG trinucleotide repeat expansion (mnemonic: Child with Giant Gonads)

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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

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Cafe au lait macules

NF1

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Shagreen patch

Tuberous sclerosis complex

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Shagreen patch

Tuberous sclerosis complex

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Cutaneous neurofibromas

NF1

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Gene in NF2

MERLIN gene, chsm 22

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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