Teaching NeuroImages: Distinct neuroimaging features of fucosidosis.

A 5-year-old girl, the product of nonconsanguineous marriage, presented with early-onset intellectual disability and autistic features. There was no regression, seizures, or vision or hearing impairment. She had normal head circumference, coarse facies, angiokeratomas, and lower limb rigidity. She had no cherryred spot or hepatosplenomegaly. Her 2-year-old brother had similar features with right hemidystonia. The MRI brain findings (figure), positive urine oligosaccharides, and absent -L-fucosidase activity in plasma and leukocytes confirmed the diagnosis of fucosidosis, an autosomal recessive lysosomal storage disorder with poor cognitive outcome.1,2 Mucopolysaccharidosis-like phenotype, angiokeratomas, oligosacchariduria, and classic MRI findings suggest fucosidosis.