Niemann-Pick disease type B with oculo-neural involvement

ABSTRACT

Niemann-Pick disease type B was diagnosed clinically and enzymatically in a 1-year-old Saudi boy presenting with hepatosplenomegaly, failure to thrive and foam cells in the bone marrow aspirate. Neurological examination and EEG were normal. Sphingomyelinase activity was deficient in leukocytes and cultured skin fibroblasts. Fundoscopy revealed "cherry red spots" of both maculas. By definition, patients with Niemann-Pick disease type B should have no cerebral involvement, and rare ocular involvement [the maculahalosyndrome], which has been described as a pathognomonic sign of this rare disease. For classification - and especially for genetic counseling - it seems important to include oculo-neural involvement in the diagnosis of Niemann-Pick disease type B