MR findings in infantile Refsum disease: case report of two family members.

Refsum disease (RD) is a rare autosomal recessive disorder characterized by an accumulation of phytanic acid . A variant of this disease that appears in children has been described and is called infantile Refsum disease (IRD). IRD is characterized by severe sensorineural deafness, retinitis pigmentosa, mental retardation, facial dysmorphism, hepatomegaly, and growth retardation . We report the MR findings in two family members with I RD. They were diagnosed on the basis of history, clinical findings, and biochemical studies. Distinctive MR abnormalities of the cerebellum in characteristic locations are also demonstrated.