Fucosidosis - Type II (Juvenile Form)
Etiology and Pathogenesis [1,2]Enzyme deficiency results in accumulation of glycosphingolipids (primarily H-antigen) in the central nervous system and peripheral tissues. Key Symptom Images Image Credits: Angiokeratomas courtesy of Desnick et al., 2003, with permission from author and publisher.
Clinical Description and Progression/Prognosis [1,2]Progressive neurologic deterioration begins after the 1st year of life, accompanied by spasticity, tremors, and mild skeletal changes. Lungs, heart, liver, pancreas, kidneys, cornea, skin, mucous-secreting glands, lymphocytes, peripheral nerves, and spleen are affected. Somatic features are similar to those in MPS.
Type II (the juvenile form) makes up 40% of all fucosidosis cases. It has a later onset and slower course than type I (infantile form), with survival into adulthood. Inheritance pattern: autosomal recessive Incidence: unknown Diagnosis: Clinical symptoms Conditions with similar presentations: MPS, Fabry (angiokeratomas) [3] Management: no disease-specific treatment available Other medical care: symptom management
 Psychomotor retardation Weakness and hypotonia initially, with eventual spasticity and contractures Coarse facial features Growth retardation leading to dwarfism Angiokeratomas Small dark purple-blue telangiectasia (indistinguishable from those seen in Fabry disease, with similar distribution) Onset about 3 years of age Most dense between the umbilicus and knees with propensity for umbilicus and buttocks Occasionally occur in mouth Back to categories
1. Hauser SL, Longo DL, eds. Harrison’s Principles of Internal Medicine. 14th ed. New York: McGraw-Hill; 1998; p. 2175.
2. Hensyl W, ed. Stedman’s Medical Dictionary. 25th ed. Baltimore: Williams & Wilkins; 1990; p. 622.
3. OMIM. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230000. Accessed August 2004. |
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