NeurometPlus

Incidence

The condition is autosomal recessive. At least 80 patients have been reported which include all 3 types of Fucosidosis..

Clinical Characteristics

In type 1 fucosidosis, 60% of patients show signs of neurological deterioration early between six and eighteen months (average 10 months) and progresses rapidly to a state of decerebrate rigidity and abolition of all mental activity. 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. 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. There is no treatment available. Death usually occur between 4 and 6 years.

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. Pathologically, the most striking microscopic features are clear vacuoles in cells of most tissues. Diagnosis: deficiency of alpha L fucosidase and red cell and salivary Louis A and B antigens increased.