Comperhensive Flashcards
(72 cards)
1
Q
[Galactosemia]
- Enzyme Def:
A
Gal-1-Phosphatase Uridytransferase
2
Q
[Galactosemia]
in GALK Mutation, what’s the clinical presentation
A
Cataract
3
Q
[Galactosemia]
- Clinical presentation
A
- Hypotonia - Developmental delay - Hepatosplenomegaly - Cataract - hypoglycemia - Ecoli sepsis
4
Q
[Galactosemia]
- Lab:
A
- High glactose & Galactose-1-Phosphatase - Reducing substance +ve - GALT mutation
5
Q
Increased Lactate:Pyruvate ratio increase suspeciouns for which inborn error of metabolism?
A
pyruvate dehydrogenase
6
Q
[PDH Deficiency]
- Clinical presentation
A
- Seizure
- Hypotonia > Spasticity
- Developmental Delay
- Encephalopathy worsens with illness **
- Ataxia
7
Q
[PDH Deficiency]
- Imaging
A
- Corpus callosum agenesis
- Ventriculomegaly
- Basal Ganglia signal intensity
8
Q
[PDH Deficiency]
- Lab
A
- High Pyruvate
- Lactic acidosis
- P:L (Low)
- Ammonia NL
9
Q
[PDH Deficiency]
- Genetic mutation
A
- X-linked (PDHA1)
10
Q
[PDH Deficiency]
- Tx
A
- KGD + Thiamine + X Glucose during illness.
11
Q
[Neurofibromatosis]
what’s the cause of tinnitus in NF-2
A
Bilateral Vestibular Shwannoma
12
Q
[Neurofibromatosis]
- Gene & Mode of inheretence in NF
A
- AD Both: NF1 (17) - NF2 (22)
13
Q
[Neurofibromatosis]
- Clinical criteria
A
[2 or more]
- >5 Cafe-au-lait
- >1 Lisch Nodule
- Optic glioma
- >1 Axillary\inguinal freckle
- 2 Neurofibroma
- Osseous leison
- 1st Degree FHx
14
Q
[Neurofibromatosis]
- Surveillence
A
- BP Q1yr
- Opha Q1yr
- ## Baseline & when symptomatic MRI
15
Q
[Neurofibromatosis]
- Eye in NF1 and NF2
A
- NF1: Optic glioma \usually asymptomatic.
- NF2: Cataract & iris hamartoma
16
Q
[Sturge weber]
- Gene mutation & Embryology malformation
A
- GNAQ2 Mutation (sporadic & Mosaic)
- Capillary Cont. To grow in the ectoderm derived organs (Skin and Brain)
17
Q
[Sturge weber]
- Site of Stain & Brain involvement
A
- Both Same side
18
Q
[Neurofibromatosis]
- Which pathway is impaired
A
RAS pathway
19
Q
[Sturge Weber]
- Which CN is affected
A
- Trigemninal (Maxillary\Opthalmic)
20
Q
[Sturge Weber]
- Clinical Triad
A
1- PWS
2- Optic Involvement (Glucoma)
3- Leptomeningeal Angioma
21
Q
[Sturge Weber]
- Neuroimaging findings
A
- Gyriform Tram Track calcifications (CT or SWI)
- Leptomeningoma (Enhancement)
- Cortical Atrophy
22
Q
[GLUT-1 Deficiency]
- Mode of Inheritance
- Mx of Choice
A
- AD (SLC2A1)
- KGD
23
Q
[GLUT-1 Def]
- Typical presentation
A
- 1sr Sx: seizures & movement disorders (dystonia and atxia) that worsens with fatigue, delyed feed, fasting, exercise
- Jerky movement, Non-specific eye movement
- Hypotonia
- Microcephaly
24
Q
[GLUT-1 Def]
- CSF Findings
A
CSF Glucose: Serum Glucose <40%
25
[PKU]
- enzyme defect
- AR phenylalanine hydroxylase (PAH)
26
[TS]
- Diagnostic Criteria for TS: Definite
- More than 1 major
or
- 1 Major and more than 1 Minor
27
[TS]
- Management of SEGA
- M-tor inhibitor [everloimus]
27
[TS]
- Diagnostic Criteria for TS : Possible
- 1 Major only
- More than one Minor Only
28
[TS]
- Major & Minor features of TS
Major:
- Renal hamartoma
- Facial angiofibromatosis
- SEGA & Subependymal Nodule
- Cortical Tubers
- Ash Leaf >5mm >2 lesions
- Shagren patch
- Ungal Fibroma >1
- Cardiac Hamartoma
- Retinal Hamartoma
- Lymphangioleiomyomatosis & Angiomyolipoma
Minor:
- Non-renal hamartoma
- Confetti skin
- Dental Enamel Pits and intraoral Fibroma
- Retinal achromic patch
- Renal cyst
29
[Proprionic Acedemia]
- Enzyme Defect
- propionyl-CoA carboxylase
30
[organic academia]
- Typical clinical presentation
- Neuro: Encephalopathy; Coma, Seizure, Hypotonia >> Hypertonia\Dystonia.
- Extra-neuro: Poor feeding, Vomiting,
31
What are the classic triad features of Lesch-Nyhan syndrome?
1. Neurologic (dystonia, spasticity, choreoathetosis)
2. Behavioral (self-mutilation, aggression)
3. Hyperuricemia (gout, nephrolithiasis)
32
Lesch-Nyhan syndrome is caused by deficiency of which enzyme, and what is the mode of inheritance?
- Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
- Inheritance: X-linked recessive
33
What enzyme is deficient in Niemann–Pick disease type A?
Acid sphingomyelinase deficiency → accumulation of sphingomyelin in lysosomes → foam cells.
34
clinical feature of niemann pick disease
- Neurodegeneration
- cherry-red macula, hepatosplenomegaly
- failure to thrive
- hypotonia, developmental delay
- foam cells in bone marrow.
35
Niemann–Pick type C Filipin staining test :
positive
36
37
What finding differentiates Niemann–Pick type A, Tay-Sachs disease and salidosis?
- Both have cherry-red spot
- Hepatosplenomegaly is present in Niemann–Pick type A and absent in Tay-Sachs.
- Salidosis is charecterstic for Myoclonic epilepsy and , normal intelligence,
38
Hexosaminidase A deficiency is present in which lysosomal disease
Tay-Sachs disease
39
WHICH TYPE OF NIEMANN–PICK DISEASE has no neurological mainfestaiton?
Type B
40
what is the life expectancy of niemann pick disease Type A?
3 Years
40
In a child with progressive neurologic decline + ataxia + hepatosplenomegaly + vertical gaze palsy = what is the likely diagnosis
Neiman pick type C
41
motor regression + cognitive decline + spasticity + vision/hearing loss + arylsulfatase A deficiency + MRI showing periventricular demyelination sparing U fibers
Metachromatic leukodystrophy.
42
NMOSD VS MOGAD (Which type of neuron is impaired)
NMOSD: Astropathy
MOGAD: Oligopathy
43
What is the classic brain MRI finding in Joubert syndrome?
Molar tooth sign on MRI → thickened and elongated superior cerebellar peduncles + hypoplastic or absent cerebellar vermis.
44
Whats the defect in Fabry disease
lysosomal storage diseases
(Deficiency of the enzyme α-galactosidase A.)
45
What is the inheretence of fabry disease
X-linked recessive
46
What does the word Acroparesthesias Mean
burning pain in hands and feet, especially with heat or exercise
47
FABRY Mnemonic
Fever, Angiokeratomas, Burning pain, Renal failure, Young stroke
48
Neurological symptoms of fabry
Acroparesthesias
Hypohidrosis
Heat and exercise intolerance
Early stroke or TIA
49
skin symptosms of fabry
Angiokeratomas
50
Eye symptotms of fabry
Corneal verticillata (whorl-like corneal deposits)
51
Renal symptoms of fabry
Proteinura >> CKD >> Renal failiure
52
Cardiac symptoms of fabry
LVH
53
Biopsy in NCL can be taken from where
skin, conjunctiva, rectal mucosa
54
Hall mark symptoms of NCL
Seizures (myoclonic)
Visual loss (except in some adult forms)
Cognitive and motor regression
55
Clinical Features of Zellweger syndrome
56
What is the other name for zellweger syndrome
(cerebrohepatorenal syndrome)
57
Under which category of diseases does zellweger fits into
peroxisomal disorder
58
What is the dysmorphic features associated with zellweger syndrome
High forehead, epicanthal folds, midface hypoplasia, large fontanel
59
Key clinical findings for zellweger syndrome in
- History
- exam
- MRI
- Lab:
- Seizure, renal\Liver impairment
- Hypotonia
- Brain: Neuronal migrational defect; Pachygyri - Bone: Stippling of patella ( Chondrodysplasia punctata )
- increased VLCFA - Decreased Phytanic acid
60
Fabry disease is caused by which enzyme def?
α-galactosidase A
61
Niemann–Pick caused by which enzyme def?
sphingomyelinase deficiency
62
Pearson syndrome hematological abnormality
sideroblastic anemia
63
congenital disorders of glycosylation (CDG) biomarker
Carbohydrate-deficient transferrin in serum and CSF
64
what is vHL disease
hereditary cancer syndrome (AD)
TS gene mutation
Neurocutanous syndrome
65
what are the benign tumors of VHL
hemangioblastoma in cerebellum - spinal cord - brainstem - eye -
66
what are the other tumors of VHL
Pheochromocytoma, RCC, Neuroendocrine tumor
67
key feature of Miller–Dieker
1- lissencephaly type 1
2- facial dysmorphism: short nose, small chin, thin upper lip, low-set ears
3- Microcephaly, spastic quadraplegia
4- intractable seizure
68
how many layers of cortex are there in miller dicker disease
4 layers
69
Hypomelanosis of Ito (HI) appearacne
hypopigmented y shape
70
