Remitting - Relapsing Polyneuropathy In Juvenile Metachromatic Leukodystrophy

Abstract

A five-year-old girl manifested with acute relapsing polyradiculo-neuropathy. Elevated cerebrospinal fluid proteins, electro-physiological evidence of conduction block and remitting course suggested possible acquired demyelinating radiculoneuropathy. However, intellectual deterioration during follow up, evidence of extensive, symmetrical and periventricular demyelination on MRI of brain and metachromatic on sural nerve biopsy led to the diagnosis of metachromatic leukodystrophy (MLD). Inherited neuropathies such as MLD may occasionally present atypically in the early stages. Recognition of this variation has considerable therapeutic and prognostic significance.