Fucosidosis type II. Alpha L fucosidase deficiency.
Incidence
The condition is autosomal recessive. At least 80 patients have been reported which include all 3 types of Fucosidosis..
Clinical Characteristics
In this type II, neurological regression is only evident in the second or third year of life and proceeds at somewhat slower pace. The clinical characteristics of fucosidosis in general are coarse facial features (Hurler-like), osteochondrodysplasia, spondylometaphyseoepiphyseal dysplasia, hepatosplenomegaly, cardiac abnormalities, mental retardation, angiokeratoma, anhidrosis and dried, thin skin. In the type II, gargoyle-like facial features are more or less pronounced but they may be very mild in infants. Skeletal abnormalities are slight and essentially restricted to the dorsal lumbar spine. They consist of anterior beaking of the vertebrae. In the infant, there may be rickets-like changes. Other findings include hepatomegaly, cardiomegaly with EKG changes, non functioning gallbladder, enlarged salivary glands, thickening skin with excessive sweating and a marked susceptibility to upper respiratory tract infections. There is no corneal opacity and the optic fundi is normal. Peripheral lymphocytes contain vacuoles and granular inclusions. Histiocytes with inclusions surrounded by vacuoles have been reported in bone marrow smears. Sodium and chloride contents of sweat and saliva may be increased. Urinary mucopolysaccharides are not elevated. Death usually occur between 4 and 6 years. There is no treatment available. Bone marrow trasplantation may be of help but apparently has not been tried. Diagnosis: deficiency of alpha L fucosidase and red cell and salivary Louis A and B antigens increased. The condition is autosomal recessive.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F. On thin layer chromatography of urine an excessive amount of fucose-containing oligosaccharide and glycolipids can be demonstrated. There is a marked deficiency of alpha L fucosidase in serum, leukocytes and cultured fibroblasts. It is always important to carry out a thin layer chromatography for oligosaccharides. Approximately 5 to 10 percent of normal people have marked depression of alpha-L-fucosidase in serum but not in leukocytes. Therefore, serum and plasma are not suitable for enzymatic diagnosis of fucosidosis. In conjunctival biopsy, clear vacuoles are seen in epithelial and mesenchymal cells. Carrier testing is possible. Pathologically, the most striking microscopic features are clear vacuoles in cells of most tissues including neurons, hepatocytes, Kupffer cells and cells of the spleen, lung, kidney, heart and skin. In the liver, hepatocytes and Kupffer cells contain clear vacuoles as in gargoylism in addition to multilamellar membrane-bound inclussions as in sphingolipidosis.