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Krabbe disease: in a Nigerian child
Abstract
Background: Krabbe disease is an inherited metabolic encephalopathy of infancy with rapidly progressive cerebral degeneration. The incidence in the tropics is not known. However, it is much less common in African children compared to their European and Asian counterparts.
Aim: To report an extremely rare inheritable neurodegenerative disease (Krabbe disease).
Case report: A five-year-old male presented to the Paediatric Neurology unit with a history of sudden loss of vision, deafness and impaired motor function. He had difficulty in walking, sudden blindness and deafness which were progressive over a six-month period. The rapid neurological deficit, radiological evidence of leukodystrophy and elevated CSF protein informed a diagnosis of Krabbe disease.
Conclusion: Krabbe disease though a rare leukodystrophy should be carefully sought in children, especially in those who present with abnormalities and difficulty in walking, sudden blindness and deafness.
