Storage Disease Seen In Peads Flashcards
What are the lysosomal storage diseases
Gaucher disease - most common lipid storage disease !
Tay sachs disease
Nieman pick disease
Fabry disease
Krabbe disease
Metachromatic disease
Gaucher disease patho physiology
Glucocerberosdiase deposition in the brain liver and spleen
Clinical features of gaucher disease
Hepatosplenomegaly
Aseptic necrosis of femur
Motor skills deterioration , seizures
Yellow spots in the eye
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X
X
X
X
X
X
X
What is the patho physiology of tay sach disease
Accumulation of ganglioside within lysosomes
Key features of tay sach disease ?
Developmental delay - psychomotor retardation
Seizures - Myoclonic
CHERRY RED SPOT ON MACULA -same is nieman Pick
HOWEVER NO HEPATOSPLENOMEGALY.
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X
X
X
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X
What are the key features of Neiman pick disease
HEPATOSPLENOMEGALY
CHERRY RED SPOT on macula
X
X
X
X
X
X
Fabry disease is a disorder of lysosomal storage and deficiency of
alpha-galactosidase A
inheritance of fabry disease ?
X-linked recessive
What are the clinical feature of fabry disease
Later onset in childhood
angiokeratomas - acute pain episodes in the peripheries
Acroparathesia - Peripheral neuropathy -
Corneal blurring / opacity
hypohydrosis -no sweating
Renal failure -proteinuria
early cardiovascular disease
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X
Patho physiology of krabbe disease
Earlier onset in childhood - realise than 3 years old
Progressive demyelination
What are the key points of krabee disease ?
Peripheral neuropathy
Optic atrophy
Globoid cells
Progressive demyelination leads to death by resp arrest
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Z
D
X
F
D
F
C
C
What are the key points of metachromatic leukodystrophy
Demyelination of the peripheral and central nervous system
