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).