An infant presents with irritability, increased tone of extremities and recurrent seizures. Tissue examination reveals globoid cells in parenchyma around blood vessels. What is the most probable diagnosis?
Correct Answer: Krabbe disease
Description: (Refer: Nelson’ss textbook of pediatrics, 19th edition, pg no: 2071-2072)
Krabbe disease (KD)/globoid cell leukodystrophy
Autosomal recessive neurodegenerative disorder.
Characterized by severe myelin loss and the presence of globoid bodies in the white matter.
Deficiency of lysosomal enzyme galactocerebroside β- galactosidase (galactosylceramidase).
Accumulation of galactocerebroside causes activation of an alternative catabolic pathway removes a fatty acid from this molecule, generating galactosylphingosine.
In patients with KD, galactocerebroside cannot be metabolized during the normal turnover or myelin because of deficiency of galactocerebroside β-galactosidase.
Because oligodendroglial cells are responsible for the elaboration of myelin, their loss results in myelin breakdown, thus producing additional galactocerebroside and causing a vicious circle of myelin destruction.
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