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ß-mannosidosis is a rare lysosomal storage disease of glycoprotein catabolism, caused by an autosomal recessively inherited deficiency of ß-mannosidase, the final enzyme involved in the catabolism of oligosaccharide side-chains of glycoproteins. This disorder was originally described in goats in 19811 and then humans in 1986.2,3 Unlike the severe clinical presentation of the caprine disease, a rapidly fatal neurological disease leading to neonatal death, the human disease is milder. To date, only twelve patients with this condition have been reported in the literature throughout the world, and the clinical manifestations have been heterogeneous, including various degrees of mental retardation associated with speech impair­ ment,2-7 hearing loss,4,6,8 aggressive behavior and emotional instability,5,8,9 angiokeratoma,2 recurrent respiratory infec­ tions6,9 and epileptic encephalopathy.7 The most recently reported case was an infant who presented with hypotonia, and abnormalities in esophageal motility and swallowing, resulting in recurrent respiratory infections.10 My report is about two girls of consanguineous Saudi parents who presented with intractable seizures, mental retardation, severe speech and language impairment. One of the girls showed deficiency of ß-mannosidase in plasma, leukocytes and cultured fibroblasts, together with excretion of an abnormal disaccharide in urine. The enzyme level in the second girl was not depleted to the same extent as the first. The clinical and biochemical features of these two patients are compared to those of previously reported patients. The majority of the twelve previously reported cases of ß-mannosidosis were of European ancestry. To my knowledge, these are the first cases reported from the Arabian Peninsula.

β-mannosidase deficiency in two mentally retarded girls with intractable seizures