Ismail et al. (1999) reported a 3.5 year old Bedouin boy who displayed clinical features of type 1 and type 2 fucosidosis. He was born at term to second-degree cousin Bedouin parents following uneventful pregnancy; he weighed 3kg and was the fifth child in a sibship of six. The boy's mother and one of his siblings were found to be asthmatic, whereas his father and other siblings were healthy. The patient suffered from bronchopneumonia at the age of 7 months and over the following three years he suffered from pulmonary infection and bronchospasm and showed negative response to bronchodilators, corticosteroids, for otitis media and periapical dental abscess. At the age of 13 months, the subject experienced mild hepatomegaly with normal echogenicity and bilateral nerve deafness of 70 dB. Meanwhile, at the age of 21 months the subjects' alpha L-fucosidase activity was assayed with fluorigenic substrate 4-methylumbellifery1-alpha-L-fucoside, the assay was negative for leucocytes in the patient and was found in both parents as 19 nmol/mg protein/h (range 30-189). The patient underwent cranial magnetic resonance imaging (MRI) at the age of 3.5 years which revealed increased signal intensity in the periventricular, supraventricular and subcortical white matter, further more in the parieto-occipital than in the frontal area and reduced signal intensity in the globus pallidus. Based on the symptoms Ismail et al. (1999) demonstrated that the subject showed the classic features of type 1 (early presentation throughout infancy and sever psychomotor retardation) and type 2 (angiokeratoma corporis diffusum and normal sweat test) fucosidosis; however, the recurrent pulmonary infections of the patient could be explained.