Abstract

An 8-week-old boy presented with a history of irritability, progressive feeding difficulty, generalised weakness, tachypnoea, and minor motor seizures. The clinical course was characterised by rapidly progressive respiratory failure, and neurological deterioration culminating in death at age 15 weeks. Electron microscopical examination and histological studies of the lung showed the presence of numerous intra-alveolar and a few interstitial macrophages. Enzyme studies and subsequent histopathological studies on brain confirmed the diagnosis of an unusual variant of Krabbe globoid cell leucodystrophy.