[Globoid cell leukodystrophy (Krabbe's disease)].

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Krabbe disease is a rare, fatal lysosomal storage disorder.
• It results from a deficiency in the enzyme galactocerebrosidase, leading to toxic globoid body accumulation.
• Early diagnosis and understanding of Krabbe disease pathogenesis are crucial for potential interventions.

Observation:

• A single case of Krabbe disease was diagnosed in 40,500 newborns over 25 years.
• The affected infant girl succumbed to aspiration pneumonia at 8.5 months.
• Microscopic examination revealed globoid cells in the brain's white matter and evidence of cerebral atrophy and vascular thrombosis.

Findings:

• Typical globoid cells were observed in the white matter of the cerebrum and brainstem.
• Cerebral atrophy measured 27%, with microscopic thrombosis in affected brain vessels.
• Polynuclear leukocytes in trigeminal nerve branches may represent peripheral equivalents of brain globoid cells, phagocytosing myelin breakdown products.

Implications:

• This case highlights the rarity of Krabbe disease and its severe neurological impact.
• The findings suggest a potential link between cytomegalovirus angiotoxicity and cerebral vascular complications in Krabbe disease.
• Understanding the role of peripheral leukocytes in myelin destruction may offer insights into disease progression and therapeutic targets.