Child Flashcards
Galactosemia presents how?
newborn with feeding difficulties, vomiting, diarrhea, jaundice, hypotonia, hepatomegaly, catarcts
-need to restrict lactose and galactose from diet
Diagnosis in baby with low lactuate:pyruvate ratio, elevated lactate and pyruvate levels?
*ataxia, areflexia, hypotonia, retard
PDH deficiency
Management of PHD deficiency?
ketogenic diet, thiamine
Diagnosis: Low CSF glucose, but normal serum glucose level, seizures, encephalopathy
GLUT-1 deficiency
Treatment for GLUT 1 deficiency?
ketogenic diet
Failure of neural plate fusion rostrally/anterior leads to what?
anencephaly and encephocele
What is anencephaly?
complete absence of both cerebral hemispheres
*not compatible with life
What is encephalocele?
herniation of neural tissues into a midline defect in the skull
*most often in occipital area
Newborn with musty smelling urine, blonde hair, pale, blue eyes, cognitive delay, seizures, microcephaly?
PKU deficiency
*AR
Treatment for PKU deficinecy?
low protein diet and phenylalanine free formua
Maple syrup urine disease is caused by what?
branched chain alpha ketoacid dehydrogenase complex deficinecy
*AR x
Treatment for maple syrup urine disease?
low protein diet
What is sacral agenesis?
absence of the sacrum
What is meningocele?
isolated protrusion of the meninges
*usually no neuro deficits
What is myelomeningocele?
protrusion of all intraspinal contents: spinal cord, nerve roots, meninges
*chiara II malformations
*associated with neuro deficits
What is diastematomyelia?
splitting of the spinal cord into 2 portions
What is diplomyelia?
duplication of the spinal cord
What other diseases are associated with TSC?
cardiac rhabdomyomas (can regress over time), renal angiomyolipomas, lymphangiomyomatosis, retinal hamrtomas
What is propionic acidemia caused by?
deficiency of propionyl CoA carboxylase
How does propionic acidemia present?
normal at first but then develop lethargy, hypotonia, dehydration, atttacks of metabolic acidosis and ketosis, hyperammonia.
-can head to pancytopenia, ICH
Treatment for propionic acidemia?
low protein diet, carnithine, biotin
Do patients with spina bifida oculta have any cognitive or motor delay?
usually no
Inheritance of Lesch Nyhan?
X linked
Niemann Pick type A
involves CNS and other viscera
-cherry red spot, hepatosplenomegaly, failure to thrive
-most die by 3 years
Niemann Pick Type B
Does not affect CNS
Both Niemann Pick Type A and B are caused by what?
sphingomyelinase deficinecy
Bone marrow biopsy of Niemann Pick A and B will show what?
vacuolated histiocytes with lipid accumulation/foam cells
Niemann Pick C is caused by what?
defects in intracellular cholesterol circulation
-results in cholesterol accumulation in perinuclear lysosomes
-diagnose with Filipin test
Niemann Pick C is caused by what gene?
NPC1, chromosome 18q11
Type 1 sialidosis presents how?
-adolescence to adulthood
-myoclonic epilepsy, visual deterioration, cherry red spots without dysmorphism
Type 2 sialidosis presents how?
-childhood
-myoclonic epilepsy, cherry red spots, severe neuro abnormalities, coarse facial features, dysosotosis and psychomotor retardation
Molar tooth sign on MRI
Joubert’s or COACH syndrome
How does Joubert’s present?
-AR
-developmental delay, ataxia, oculomotor abnormalities, respiratory difficulties
-ciliopathy
Failure of prosencephalon to form telencephalon and diencephalon and failure of 2 distinct hemispheres results in what?
holoprosencephaly
Macrocephaly and sundowning of the eyes are symptoms of what?
hydrocephalus
Congenital aqueductal stenosis is caused by what?
narrowing of the cerebra aqueduct that connects the 3rd and 4th ventricle
Chondrodysplasia punctata with bony stippling of patella is associated with what condition?
Zellweger
Recurrent epistaxis, AVMs and telangiectasis?
Osler weber rendu
Mutation in Osler Weber Rendu
HHT1 gene on chromosome 9
HHT2 chromosome 12
Pseudoxanthoma elasticum
connective tissue disorder
yellow xanthomas in skin regions and mucous membranes
peu d’orange appereance on retina
vascular occlusions and intracranial carotid artery aneursyms
Xeroderma pigmentosum
-neurocutaneous disorder
-sensitivity to UV light, predisposes people to freckling and multiple cutaneous malignancies
-cognitive declin, hearing loss, tremor, chorea
What is septo-optic dysplasia?
hypoplasia or absence of septum pellucidum, optic nerve and optic chiasm hypoplasia, dysgenesis of corpus callosum and anterior commissure and forix deattachment
cavum septum pellucidum
septum pellucidum is not fused
behavior changes, cognitive impairement, spasticity, gait problems and incoordination?
X-linked adrenoleukodystrophy
*ABCD1 gene
Leigh’s syndrome is due to what dysfunction?
mitochondrial
respiratory involvement is often associated with which syndrome?
leigh
Kearns Sayre syndrome is caused by what?
a single large scale mithchondrial DNA deletion or less commonly duplication
Symptoms of Kearns Sayre
progressive external ophthalmoplegia, onset before age 20 and one of these:short stature, pigmentary retinopathy, cerebellar ataxia, heart block and increased CSF Protein
Lipodystrophy with prominent fat pads in butt and inverted nipples is distinctive for what disease?
Type 1 CDG (congential disorders of glycoslyation)
AR
Agenesis or dysgensis of corpus callosum is due to what?
abnoramlities in commissural plate
Hypopigmented streaks/patches that follow skin lines
hypomelanosis of Ito
Incontinentia pigmenti inheritance
X Linked dominant
-NEMO gene
*only females, males die
Incontinentia pigmenti lesions
vesiculobullous lesions at birth, verrucous lesions at 6 weeks of age, hyperpigmented lesions thereafter and then become hypopigmented
-some people dont have any neuro findings, but can have ocular abnormalities, pyramidal tract findings, intellectual impariement
neurocutaneous melanosis
congential cutaneous lesions that are abnormally pigmented in association with leptomeningeal melanosis
*high risk melanoma
Parry Romberg syndrome
progressive loss of facial tissue, cartilage, bone –>hemifacial atrophy
*headaches, horner’s, seizures, hemiparesis
Maffucci’s syndrome
multiple enchodromas, secondary hamgioma formation, vitiligo, hyperpigmented patches, cafe au lait
periventricular nodular heteroptia is a disorder of what
cell migration
Disorders of cell proliferation
megalencephaly and focal cortical dysplasia
Disorders of cell migration
lissencephaly, cobblestone complex malformations, all types of heterotopia
Disorders of cortical organization
polymicrogyria, schizencephaly, microdysgenesis
What is hemimegalencephaly?
enlargement of one brain hemisphere
frequently associated with cortical malformations
Miller Dieker syndrme
form of lissencephaly (4 layer variant), small jaw, low set ears, short nose with upturned nares, prominent forehead, bitemporal hallowing
Miller Diecker gene
LIS1 gene, chromosome 17
lissencephaly with abnormal genitalia in males?
x-linked lissencephalu
*ARX gene
Neuro manifestations of hypomelanosis of Ito?
intellectual impairement, macro/microcephaly, seizures, cerebral hypoplasia and cerebellar hypoplasia,
-also have eye involvement: catarcts, optic atrophy etc
-congential heart disease
Are cafe au lait spots hypo or hyperpigmented?
hyperpigmented
Are ash leaf spots hypo or hyperpigmented?
hypopigmented
Legius syndrome
-AD cutaneous syndrome
-cafe au lait spots, axillary/inguinal freckling but NO optic gliomas, neurofibromas, lisch nodules
Homocystinuria is caused by what
cystathionine beta synthase deficinecy
AR
homocystinuria presents how?
normal but then get developmental delay, marfinoid habitus, high incidiency of thromboembolism
Treatment for homocystinuria
daily pyridoxine, low protein diet
Periventricular nodular heterotopia genetics
usually caused by FLNA gene (FILAMIN A) on chromosome Xq23
What is a plexiform neurofibroma?
they originate in the peripheral nerves
Genes in TSC?
AD
TSC1 (HAMARTIN) or TSC2 (TUBERIN)
Does a normal genetic test exclude TSC?
no 10-25% kids have no mutation found on genetic testing
Fragile X syndrome is the most common inherited form of what?
intellectual disability
Mutation in Fragile x?
CGG trinucleotide repeat in the familial mental retardation 1 gene
(child with giant gonads)
Phenotype of Fragile x?
elongated jaw, protuberant ears, big testes, intellectual disability
Prader Willi syndrome
intellectual disability, short, dysmorphic face, HYPERPHAGIA, obesity
Happy puppet syndrome?
Angelman’s syndrome
*epilepsy, ataxia, laughter, microcephaly, intellectual disability
Williams syndrome
Also has happy affect and disability, but with congential heart disease, “elfin” faces
Prader willi mutation
microdeletion of 15q11-q13 PATERNALLY INHERITED
Angelman’s mutation
microdeletion of 15q11-q13
MATERALLY INHERITED
Cri du chat syndrome
cat cry, disability, hypertelorism, migrgnathia
*deletion on chromosome 5p
What diagnosis should you suspect in newborns with ketosis, metabolic acidosis, hyperglycemia, hyperammonia?
methylmalonic acidemia
Dandy walker malformation
cerebellar vermis hypoplasia, 4th ventricle cystic dilatation and elevation of the torcula and tentorium cerbelli
Subependymal giant cell astrocytoma is almost exclusively seen in what condition?
TSC
Enzyme deficinecy in Gaucher’s
glucocerebrosidase
Which type of Gaucher’s has an increased risk of Parkinsons
type 1
Enzyme deficiency in Sandhoff’s disease?
Hexosaminidase A and B
Difference between Tay Sachs and Sandhoff’s?
Tay Sachs only has CNS as affected system. Sandhoff’s has CNS and viscera (hepatosplenomegaly)
How does Tay Sachs present
startle response, motor regression, spasticity, cherry red macula, seizures
Subependymal nodules are one of the major diagnostic criteria for what disease?
TSC
Canavan’s disease leads to an accumulation of what in the brain?
n-acetylaspartic acid
What is the deficiency in Canavan’s disease?
aspartoacylase
MRI findings of Canavan’s disease?
T2 hyperintensities WITH INVOVLEMENT of u fibers
Classic radiologic finding of Sturge Weber
tram track appearance
Syndrome with corpus callosum agenesis or absence, gyral malformations, and cerebellar hypoplasia?
Glycine encephalopathy
Glycine encephalopathy is caused by what?
defet in proteins that make up the mitochondiral glycine cleavage system
Krabbe disease, are U fibers spared or affected?
spared
What do you see on pathology for Krabbe
clusters of globoid cells (cytoplasmic accumulations of galactocerebroside)
GM1 gangliosidosis enzyme deficiency
lysosomal enzyme beta galactosidase
Alexander’s disease mutation
GFAP
Does Alexander’s disease spare the U fibers or involve?
involve
Rosenthal fibers are seen in what disease?
Alexander’s
Tad pole sign on MRI
Alexander’s - dramatic thinning of the upper cervical spinal cord
Inheritance of TSC?
AD with variable penetrance
Pelizaeus Merzbacher is it demyelinating or hypomyelinating leukodystrophy?
hypomyelinating
*spares U fibers
Inheritence of Pelizaeus Merzbacher?
X linked recessive
PLP1
How does Pelizaeus Merzbacher present?
nodding movements of head, pendular nystagmus, abnormal eye movements, ataxia, chorea, dystonia, developemental arrest, seizures
MPS type 1
Hurler’s syndrome
*alpha L iduronidase deficinecy
*accumulation of dermatan and heparan sulfate
MPS type 2
Hunter’s syndrome
*defect in iduronate sulfatase
*accumulation of dermatan sulfate and heparan sulfate
Acute intermittent porphyria is caused by what?
deficiency of PBG deaminase
What do you see in urinary studies for AIP?
elevate urinary excretion of ALA and PBG during attacks
Menkes disease gene?
X linked recessive
*ATP7A
(copper transporter)
abetalipoproteinemia is has demyelination of what part of the SC?
posterior columns
