Alström syndrome (AS) is a rare autosomal recessive disorder,
characterized by retinal degeneration, progressive hearing impairment,
truncal obesity and non-insulin dependent diabetes mellitus. A
6-year-old girl was admitted with aphasia, deafness, strabismus,
abdominal distention, and weakness on the right body side. The physical
and laboratory examination revealed psychomotor retardation, right
hemiparesis, sensorioneural hearing loss, aphasia, eye and teeth
abnormalities, hyperpigmentation, truncal obesity, hepatosplenomegaly,
severe iron deficiency anemia, delayed bone age, and cerebral
hemiatrophy. Based on these abnormal findings she was diagnosed as AS.
According to our knowledge this is the first case of AS with cerebral
involvement. This last finding may be a component of the syndrome