Four siblings with consanguineous parents, presenting with oculomotor apraxia in early childhood, were diagnosed with Gaucher disease (GD) at 10 years of age, at King Faisal Specialist Hospital, Riyadh, Saudi Arabia. Slow horizontal saccades, compensatory head thrust, and reading disability in early childhood was followed by cardiovascular calcification at 10 years. Bone marrow biopsy showed Gaucher cells, and cultured fibroblast B-glucocerebrosidase was reduced to 10% of control levels. Genotype analysis in 2 patients showed homozygosity for D409H (1342G->C) mutation. The uniformity of symptoms and signs allowed classification of this variety of GD as the type IIIC. [1]
COMMENT. Oculomotor apraxia presenting in early childhood and progressive aortic and mitral valve calcification in adolescence are the distinctive clinical manifestations of Gaucher disease, type IIIC.