Abstract:
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FUCA1
gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents
a disease spectrum with a wide variety of clinical features, but most affected patients have slow
neurologic deterioration. Many patients die young and the long-term clinical outcomes in adult patients are
poorly documented. Here, we report the long-term follow up of two Caucasian siblings, a 31-year-old man and
25-year-old woman.
We describe the clinical, biochemical, radiological and genetic findings in two siblings affected by Fucosidosis
and the differences between them after 19-years follow up. The dermatological features of the younger sibling
have been reported previously by Bharati et al. (2007).
Both patients have typical features of Fucosidosis, such as learning difficulties, ataxia, and angiokeratomas
with differing severity. Case 1 presents severe ataxia with greater limitation of mobility, multiple dysostoses,
angiokeratomas on his limbs, retinal vein enlargement and increased tortuosity in the eye and gastrointestinal
symptoms. Biochemical analysis demonstrated a deficiency of alpha-fucosidase in leucocytes. Case 2 has a
greater number of angiokeratomas and has suffered three psychotic episodes. The diagnosis of Fucosidosis was
confirmed in cultured skin fibroblast at the age of 12 years. Molecular analysis of the FUCA1 gene showed a
heterozygous mutation c.998G > A p.(Gly333Asp), with a pathogenic exon 4 deletion in the other allele in both
patients.
CONCLUSION. Fucosidosis presents a wide clinical heterogeneity and intrafamilial variability of symptoms.
Psychosis and gastrointestinal symptoms have not been reported previously in Fucosidosis.
