Child Neurology Flashcards
anterior neuropore fusion defects
anencephaly & encephlocele
posterior neuropore fusion defects
spina bifida, myelomeningocele
signals from neural tube differentiation
from mesoderm of notochord: sonic hedgehog
from lateral epidermal ectoderm: bone morphogenic proteins
risk factors for neural tube defects
folate deficiency
AEDs
maternal diabetes
vitamin A toxicity
cell of origin of CNS
ectoderm - derived from NEURAL TUBE
cell of origin of PNS
ectoderm - derived from NEURAL CREST CELLS
cell of origin of vertebral bodies
mesoderm of NOTOCHORD
balloon cells
focal cortical dysplasia, a cortical developmental disorder of cell proliferation
holoprosencephaly
failure of prosencephalon to divide into cerebral hemisphere & other structures.
problem during 4-8 wk of gestation
reduced visual acuity, panhypopituitarism, absent septum pellucidum
septo-optic dysplasia
smooth brain, small chin, thin upper lip, intractractable seizure
Lissencephaly type 1, Miller-Dieker syndrome, LIS1 gene, CHROMOSOME 17, disorder of microtubles and dynenin
DCX gene (doublecortin protein) abnormality: phenotype & mod of inheritance
X-linked lissencephaly, DCX gene
X-linked: gene mutation leads to smooth brain in MALES & double cortex in FEMALES
three disorders associated w/ cobblestone cortical malformaiton
walker-warburg syndrome
fukuyama muscular dystrophy
muscle-eye-brain disease
*developmental delays, seizures, muscular dystrophy, eye abnormalities
molar tooth sign
joubert’s syndrome & other disorders of cerebellar hypoplasia
childhood obesity & intellectual disability
prader-willi syndrome
laurence-moon syndrome
inappropriate laughter, arm flapping, intellectual disability, seiures, prominent jaw
angelman’s syndrome
genetic disoder in prader-will & angelman’s syndrome
Chromosome 15q11-q13
prader-willi - paternally inheried
Angelman’s syndrome - maternally inherited
intellectual disability, protruberant ears and large testes
FRAGILE X = CGG trinucleotide expansion
(trick = Child with Giant Gonads)
developmental regression at approx 6-18 months of age w/ hand wringing & microcephaly in female
Rett’s syndrome, MECP2 gene mutation; CDKL5 mutation results in rett like syndrome with earlier onset seizures
NF1
NEUROFIBRIN GENE - CH 17
- cafe au lait macules
- cutaneous neurofibromas
- axillary or inguinal freckling
- Lisch’s nodules = IRIS hamartomas
- sphenoid wing dysplasia
NF2
MERLIN gene = CH 22
- bilateral vestibular schwanomas
tuberous sclerosis complex
- shagreen patch
- subependymal giant cell astrocytomas
- ashleaf spots (hypometanotic lesions)
- lymphangiomyomatosis
- dental enamel pits
tx that may inhibit growth of harmatoms in tuberous sclerosis complex
rapamycin & its analogues
multiple intracranial AVMs
hereditary hemorrhagic telangiectasia or osler-weber-rendu syndrome
hypopigmented streaks that follow skin lines
hypomelanosis of Ito
hyperpigmented cutaneous lesions & leptomeningeal melanoma
neurocutaneous melanosis
hemifacial atrophy
parry-romberg syndrome
multiple endochrondromas & secondary hemangiomas
maffucci’s syndrome
retinal, cerebellar and spinal hemangioblastomas; chromosome + mode of inheritance
von hippel lindau disease
VHL gene
CHROMOSOME 3
AD
freckles, muliple skin and systemic malignancies, neuropathy, ataxia, cognitive decline
xeroderma pigmentosa
-defect in DNA repair leading to sensitivity to UV light
brittle hair, bilateral subdural hematomas, developmental delay
Menkes disease (kinky hair syndrome) - in babies
- due to copper deficiency
-ATP7A mutation
epileptic encephalopahty and low csf glucose level
glucose transporter type 1 deficiency
GLUT 1 transporter
SLC2A1 gene
DeVivo syndrome
developmental delay, dysmorphic features, inverted nipples and porminent fat pads. Carbohydrate-deficient transferrin in the CSF
congenital disorders of GLYCOSYLATION
urine w/ musty odor
phenylketonuria = PKU
cystathionine B synthase deficiency
homocystinuria
accumulation of branced chain amino acids: leucine, isoluecine, valine
maple syrup urine disease
intellectual disability, aggressiveness, self mutilation, hyperuricemia (gout & nephrolithiasis)
lesch-nyham syndrome: hypoxanthine guanine phosphoribosyltransferase deficiency
gaucher’s cells: “wrinkled tissue paper” cells
gaucher’s disease = glucocerebrosidase deficiency
globoid cells
krabbe’s disease: galactocerebroside B-galactosidase deficiency
B-galactosidase deficiency
GM1 gangliosidosis
hexosaminidase A deficiency
Tay-sachs disease
Hexosaminidase A & B def
sandhoff’s disease
acid sphingomyelinase deficiency
niemann pick types A & B
disorder of cholesterol trafficking in the intracellular domain
niemann pick type C
metachromatic leukodystrophy
arylsulfatase A deficiency
angiokeratomas, renal failure, htn, storeks, autonomic dysfxn
fabry’s disease = ALPHA-GALACTOSIDASE DEFICIENCY
symmetric white matter involment predominantly in hte posteior regions, sparing the U fibers
adrenoleukodystrophy
megalencephaly, symmetric white matter diseaseas involving the U fibers. N-acetylaspartic acid peak on MR spectroscopy
Cavan’s disease: ASPARTOACYLASE DEFICIENCY
Megalencephaly, symmetric white matter involvement predominantly in the ANTERIOR regions &
ROSENTHAL fibers on histopath
Alexander’s disease: Mutation in the glial fibrillary acidic protein, GFAP
white matter demyelination with “tigroid” apperance sparing the U fibers
pelizaeus-merzhacher disease: Gene PLP1, X-LINKED
Progressive external ophthalmoplegia, onset younger than 20 years, short stature, ataxia, heart block retinitis pigmentosa, CSF protein > 100 mg/dL
Kearns-Sayre syndrome
get an EKG and if there is a block, place a pacemaker
Kearns-Sayre syndrome
feeding difficulties, voiting, diarrhea, jaundiced, hepatosplenomeglay, FTT, cataracts, and reducing substances in urine
galactosemia
triad of hyperammonemia, encephalopathy, and respiratory alkalosis
- No evidence of organic acidemias, normal anion gaps, normal serum glucose level
urea cycle disorders
new born babies with ketoacidosis, anion gap, elevated propionic acid level in the blood
propionic acidemia
alopecia, skin rash, hypotonia, seizures, optic atrophy, hearing loss, hyperammonemia
biotinidase deficiency
psychomotor retardation, myoclonic seizures, and blindness. intraneuronal deposits seen on EM (fingerprint bodies, granular osmiophilic deposits, curvilinear bodies and rectilinear profiles)
neuronal ceroid lipofuscinosis
gyral calcifications in tram-track appearnace on MRI
sturge-weber syndrome
myoclonic epilepsy & cherry red spot
sialidosis
