Child Flashcards
(116 cards)
1
Q
Galactosemia presents how?
A
newborn with feeding difficulties, vomiting, diarrhea, jaundice, hypotonia, hepatomegaly, catarcts
-need to restrict lactose and galactose from diet
2
Q
Diagnosis in baby with low lactuate:pyruvate ratio, elevated lactate and pyruvate levels?
*ataxia, areflexia, hypotonia, retard
A
PDH deficiency
3
Q
Management of PHD deficiency?
A
ketogenic diet, thiamine
4
Q
Diagnosis: Low CSF glucose, but normal serum glucose level, seizures, encephalopathy
A
GLUT-1 deficiency
5
Q
Treatment for GLUT 1 deficiency?
A
ketogenic diet
6
Q
Failure of neural plate fusion rostrally/anterior leads to what?
A
anencephaly and encephocele
7
Q
What is anencephaly?
A
complete absence of both cerebral hemispheres
*not compatible with life
8
Q
What is encephalocele?
A
herniation of neural tissues into a midline defect in the skull
*most often in occipital area
9
Q
Newborn with musty smelling urine, blonde hair, pale, blue eyes, cognitive delay, seizures, microcephaly?
A
PKU deficiency
*AR
10
Q
Treatment for PKU deficinecy?
A
low protein diet and phenylalanine free formua
11
Q
Maple syrup urine disease is caused by what?
A
branched chain alpha ketoacid dehydrogenase complex deficinecy
*AR x
12
Q
Treatment for maple syrup urine disease?
A
low protein diet
13
Q
What is sacral agenesis?
A
absence of the sacrum
14
Q
What is meningocele?
A
isolated protrusion of the meninges
*usually no neuro deficits
15
Q
What is myelomeningocele?
A
protrusion of all intraspinal contents: spinal cord, nerve roots, meninges
*chiara II malformations
*associated with neuro deficits
16
Q
What is diastematomyelia?
A
splitting of the spinal cord into 2 portions
17
Q
What is diplomyelia?
A
duplication of the spinal cord
18
Q
What other diseases are associated with TSC?
A
cardiac rhabdomyomas (can regress over time), renal angiomyolipomas, lymphangiomyomatosis, retinal hamrtomas
19
Q
What is propionic acidemia caused by?
A
deficiency of propionyl CoA carboxylase
20
Q
How does propionic acidemia present?
A
normal at first but then develop lethargy, hypotonia, dehydration, atttacks of metabolic acidosis and ketosis, hyperammonia.
-can head to pancytopenia, ICH
21
Q
Treatment for propionic acidemia?
A
low protein diet, carnithine, biotin
22
Q
Do patients with spina bifida oculta have any cognitive or motor delay?
A
usually no
23
Q
Inheritance of Lesch Nyhan?
A
X linked
24
Q
Niemann Pick type A
A
involves CNS and other viscera
-cherry red spot, hepatosplenomegaly, failure to thrive
-most die by 3 years
25
Niemann Pick Type B
Does not affect CNS
26
Both Niemann Pick Type A and B are caused by what?
sphingomyelinase deficinecy
27
Bone marrow biopsy of Niemann Pick A and B will show what?
vacuolated histiocytes with lipid accumulation/foam cells
28
Niemann Pick C is caused by what?
defects in intracellular cholesterol circulation
-results in cholesterol accumulation in perinuclear lysosomes
-diagnose with Filipin test
29
Niemann Pick C is caused by what gene?
NPC1, chromosome 18q11
30
Type 1 sialidosis presents how?
-adolescence to adulthood
-myoclonic epilepsy, visual deterioration, cherry red spots without dysmorphism
31
Type 2 sialidosis presents how?
-childhood
-myoclonic epilepsy, cherry red spots, severe neuro abnormalities, coarse facial features, dysosotosis and psychomotor retardation
32
Molar tooth sign on MRI
Joubert's or COACH syndrome
33
How does Joubert's present?
-AR
-developmental delay, ataxia, oculomotor abnormalities, respiratory difficulties
-ciliopathy
34
Failure of prosencephalon to form telencephalon and diencephalon and failure of 2 distinct hemispheres results in what?
holoprosencephaly
35
Macrocephaly and sundowning of the eyes are symptoms of what?
hydrocephalus
36
Congenital aqueductal stenosis is caused by what?
narrowing of the cerebra aqueduct that connects the 3rd and 4th ventricle
37
Chondrodysplasia punctata with bony stippling of patella is associated with what condition?
Zellweger
38
Recurrent epistaxis, AVMs and telangiectasis?
Osler weber rendu
39
Mutation in Osler Weber Rendu
HHT1 gene on chromosome 9
HHT2 chromosome 12
40
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
41
Xeroderma pigmentosum
-neurocutaneous disorder
-sensitivity to UV light, predisposes people to freckling and multiple cutaneous malignancies
-cognitive declin, hearing loss, tremor, chorea
42
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
43
cavum septum pellucidum
septum pellucidum is not fused
44
behavior changes, cognitive impairement, spasticity, gait problems and incoordination?
X-linked adrenoleukodystrophy
*ABCD1 gene
45
Leigh's syndrome is due to what dysfunction?
mitochondrial
46
respiratory involvement is often associated with which syndrome?
leigh
47
Kearns Sayre syndrome is caused by what?
a single large scale mithchondrial DNA deletion or less commonly duplication
48
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
49
Lipodystrophy with prominent fat pads in butt and inverted nipples is distinctive for what disease?
Type 1 CDG (congential disorders of glycoslyation)
AR
50
Agenesis or dysgensis of corpus callosum is due to what?
abnoramlities in commissural plate
51
Hypopigmented streaks/patches that follow skin lines
hypomelanosis of Ito
52
Incontinentia pigmenti inheritance
X Linked dominant
-NEMO gene
*only females, males die
53
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
54
neurocutaneous melanosis
congential cutaneous lesions that are abnormally pigmented in association with leptomeningeal melanosis
*high risk melanoma
55
Parry Romberg syndrome
progressive loss of facial tissue, cartilage, bone -->hemifacial atrophy
*headaches, horner's, seizures, hemiparesis
56
Maffucci's syndrome
multiple enchodromas, secondary hamgioma formation, vitiligo, hyperpigmented patches, cafe au lait
57
periventricular nodular heteroptia is a disorder of what
cell migration
58
Disorders of cell proliferation
megalencephaly and focal cortical dysplasia
59
Disorders of cell migration
lissencephaly, cobblestone complex malformations, all types of heterotopia
60
Disorders of cortical organization
polymicrogyria, schizencephaly, microdysgenesis
61
What is hemimegalencephaly?
enlargement of one brain hemisphere
frequently associated with cortical malformations
62
Miller Dieker syndrme
form of lissencephaly (4 layer variant), small jaw, low set ears, short nose with upturned nares, prominent forehead, bitemporal hallowing
63
Miller Diecker gene
LIS1 gene, chromosome 17
64
lissencephaly with abnormal genitalia in males?
x-linked lissencephalu
*ARX gene
65
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
66
Are cafe au lait spots hypo or hyperpigmented?
hyperpigmented
66
Are ash leaf spots hypo or hyperpigmented?
hypopigmented
66
Legius syndrome
-AD cutaneous syndrome
-cafe au lait spots, axillary/inguinal freckling but NO optic gliomas, neurofibromas, lisch nodules
67
Homocystinuria is caused by what
cystathionine beta synthase deficinecy
AR
68
homocystinuria presents how?
normal but then get developmental delay, marfinoid habitus, high incidiency of thromboembolism
69
Treatment for homocystinuria
daily pyridoxine, low protein diet
70
Periventricular nodular heterotopia genetics
usually caused by FLNA gene (FILAMIN A) on chromosome Xq23
71
What is a plexiform neurofibroma?
they originate in the peripheral nerves
72
Genes in TSC?
AD
TSC1 (HAMARTIN) or TSC2 (TUBERIN)
73
Does a normal genetic test exclude TSC?
no 10-25% kids have no mutation found on genetic testing
74
Fragile X syndrome is the most common inherited form of what?
intellectual disability
75
Mutation in Fragile x?
CGG trinucleotide repeat in the familial mental retardation 1 gene
(child with giant gonads)
76
Phenotype of Fragile x?
elongated jaw, protuberant ears, big testes, intellectual disability
77
Prader Willi syndrome
intellectual disability, short, dysmorphic face, HYPERPHAGIA, obesity
78
Happy puppet syndrome?
Angelman's syndrome
*epilepsy, ataxia, laughter, microcephaly, intellectual disability
79
Williams syndrome
Also has happy affect and disability, but with congential heart disease, "elfin" faces
80
Prader willi mutation
microdeletion of 15q11-q13 PATERNALLY INHERITED
81
Angelman's mutation
microdeletion of 15q11-q13
MATERALLY INHERITED
82
Cri du chat syndrome
cat cry, disability, hypertelorism, migrgnathia
*deletion on chromosome 5p
83
What diagnosis should you suspect in newborns with ketosis, metabolic acidosis, hyperglycemia, hyperammonia?
methylmalonic acidemia
84
Dandy walker malformation
cerebellar vermis hypoplasia, 4th ventricle cystic dilatation and elevation of the torcula and tentorium cerbelli
85
Subependymal giant cell astrocytoma is almost exclusively seen in what condition?
TSC
86
Enzyme deficinecy in Gaucher's
glucocerebrosidase
87
Which type of Gaucher's has an increased risk of Parkinsons
type 1
88
Enzyme deficiency in Sandhoff's disease?
Hexosaminidase A and B
89
Difference between Tay Sachs and Sandhoff's?
Tay Sachs only has CNS as affected system. Sandhoff's has CNS and viscera (hepatosplenomegaly)
90
How does Tay Sachs present
startle response, motor regression, spasticity, cherry red macula, seizures
91
Subependymal nodules are one of the major diagnostic criteria for what disease?
TSC
92
Canavan's disease leads to an accumulation of what in the brain?
n-acetylaspartic acid
93
What is the deficiency in Canavan's disease?
aspartoacylase
94
MRI findings of Canavan's disease?
T2 hyperintensities WITH INVOVLEMENT of u fibers
95
Classic radiologic finding of Sturge Weber
tram track appearance
96
Syndrome with corpus callosum agenesis or absence, gyral malformations, and cerebellar hypoplasia?
Glycine encephalopathy
97
Glycine encephalopathy is caused by what?
defet in proteins that make up the mitochondiral glycine cleavage system
98
Krabbe disease, are U fibers spared or affected?
spared
99
What do you see on pathology for Krabbe
clusters of globoid cells (cytoplasmic accumulations of galactocerebroside)
100
GM1 gangliosidosis enzyme deficiency
lysosomal enzyme beta galactosidase
101
Alexander's disease mutation
GFAP
102
Does Alexander's disease spare the U fibers or involve?
involve
103
Rosenthal fibers are seen in what disease?
Alexander's
104
Tad pole sign on MRI
Alexander's - dramatic thinning of the upper cervical spinal cord
105
Inheritance of TSC?
AD with variable penetrance
106
Pelizaeus Merzbacher is it demyelinating or hypomyelinating leukodystrophy?
hypomyelinating
*spares U fibers
107
Inheritence of Pelizaeus Merzbacher?
X linked recessive
PLP1
108
How does Pelizaeus Merzbacher present?
nodding movements of head, pendular nystagmus, abnormal eye movements, ataxia, chorea, dystonia, developemental arrest, seizures
109
MPS type 1
Hurler's syndrome
*alpha L iduronidase deficinecy
*accumulation of dermatan and heparan sulfate
110
MPS type 2
Hunter's syndrome
*defect in iduronate sulfatase
*accumulation of dermatan sulfate and heparan sulfate
111
Acute intermittent porphyria is caused by what?
deficiency of PBG deaminase
112
What do you see in urinary studies for AIP?
elevate urinary excretion of ALA and PBG during attacks
113
Menkes disease gene?
X linked recessive
*ATP7A
(copper transporter)
114
abetalipoproteinemia is has demyelination of what part of the SC?
posterior columns
