Fucosidosis type III. 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
The distinction between the three forms of fucosidosis is somewhat artificial because there is a virtual continuum of clinical expression. In the form III of fucosidosis, neurological signs are noted in the first few years of life but progress is slowly to a state of severe mental and motor deterioration by adolescence or adulthood. Coarse facial features, skeletal deformities or dwarfism become progressively evident. The clinical characteristics of fucosidosis are coarse facial features (Hurler-like), osteochondrodysplasia, spondylometaphyseoepiphyseal dysplasia, hepatosplenomegaly, cardiac abnormalities, mental retardation, angiokeratoma, anhidrosis and dried, thin skin.The main distinguished feature is the presence of angiokeratoma of the same type and distribution as in Fabry disease. The skin lesion is essentially distributed on the external genitalia, abdomen, buttocks, and thighs. There are telangiectasic lesions in the mouth. Tortuosity of conjunctival vessels and pigmentary degeneration of the retina has been reported. These patients may survive for many 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.
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.