Friday, May 1, 2009

Metachromatic Leukodystrophy:
Arylsulphatase A deficiency
It has
slurred speech
nystangmus ,
optic atrophy
absent deep tendon reflexes

Note:Freidrich ataxis has explosive speech, nystagmus and hypotonia , absent deep tendon reflexes while Lesh nyhan has spasticity along with self-mutilation.

Krabbes' disease:Myelin destruction
Deficincy of galactocerebroside beta galactosidase and Symptoms appear in first few months.
Crying, feeding problems ,ophisthotonus and optic atrophy

IMPORTANT ONE LINERS

Wilson disease:-
Adolescence to 40
Early age :-Hepatic involvement predomiantes
Late age psychiatric symptoms prdomaite.
Increased T2 density in MRI caudate and putamen neucleus, hypodense areas in CT in basal ganglia
Complications:-
Delayed diagnosis may result in Hepatic involvement becoming to fulminant and post necrotic cirrhosis.
Early diagnosis and treatment can even revert the hepatic , neurological damage.