Macular Retinal Detachment in Hallermann-Streiff Syndrome

symmetric changes, and lack of symptoms, we suspected a metabolic storage disorder. Laboratory test results showed normal levels of -galactosidase, arylsulfatase A, hexosaminidase A and B, and -galactocerebrosidase.However, sialic acid levelswere elevated in the urine. Examination results of a skin biopsy specimen revealed a fibroblast -neuraminidase level of 0.5 nmoles/h per milligram of protein (reference range, 15.0-30.0 nmoles/h per milligram of protein). Based on these findings, a diagnosis of sialidosis (mucolipidosis type I) was made.