Fucosidosis is an autosomally recessive inherited neurovisceral storage disease which has been attributed to a specific deficiency of the lysosomal hydrolase α-L-fucosidase (1, 10, 13, 25). Onset of clinical symptoms occurs during the first two or three years of life, but the rate of progression of neurological degeneration to the decerebrate state may be variable. A considerable degree of clinical heterogeneity has been reported amongst fucosidosis patients (3, 12). Thus, at least five patients (11,13,14) exhibited coarse facial features and skeletal abnormalities typical of the mucopolysaccharidoses, together with hepatosplenomegaly, cardiomegaly, thickening of the skin and repeated respiratory infections. A second group, characterized by the index case (10), rapidly progressed to spastic quadriplegia and bore less clinical resemblance to the mucopolysaccharide storage disorders; an intriguing finding in these patients was the abnormal sweat electrolyte levels, loss of gallbladder function and fibrotic degeneration of the pancreas. A third group showed a much more progressive cerebral degeneration (3,12,17) (with the oldest known patient in his late twenties) associated with skeletal abnormalities and angiokeratoma corporis diffusum.
KeywordsInborn Error Storage Material Culture Skin Fibroblast Coarse Facial Feature Spastic Quadriplegia
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