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fucosidosis

MIM.230000 1p34

Tuesday 29 July 2008

Definition: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues.

Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.

Synopsis

- short stature
- growth retardation
- normal head circumference
- coarse facial features
- prominent forehead
- hearing loss
- hypertelorism
- heavy eyebrows
- tortuosity of conjunctival vessels
- broad nose
- large tongue
- thick lips
- cardiomegaly
- recurrent respiratory infections
- broad chest
- wide clavicles
- spatulated ribs
- hernia
- hepatomegaly
-  splenomegaly
- dysostosis multiplex
- progressive thickening of diploic spaces
- absent/hypoplastic paranasal sinuses
- lumbar hyperlordosis
- short odontoid
- cervical platyspondyly
- anterior beaking of thoracic and lumbar vertebrae
- scoliosis
- small fifth lumbar vertebrae
- absent/hypoplastic coccyx
- widened, scalloped acetabular roof
- coxa valga
- joint contracture
- angiokeratoma
- thin, dry skin
- anhidrosis
- mental retardation
- hypotonia changing to hypertonia
- spastic quadriplegia
- seizures
- cerebral atrophy
- peripheral neuropathy

LABORATORY

- Elevated sweat chloride
- Vacuolated lymphocytes
- Increased urine oligosaccharides
- Alpha-L-fucosidase deficiency

Types

- severe infantile form (type I)
- milder form (type II)

Etiology

- Fucosidosis is caused by mutations in the alpha-L-fucosidase gene (FUCA1 ) (MIM.230000).