Hyperphosphatasia, Neurologic Deficits and Mental Retardation in Four Siblings

During a systematic screening of the mentally retarded children it was noted that one case had elevated serum alkaline phosphatase. There were no other biochemical abnormalities. The clinical examination showed neurologic deficits but not hepatic or bone anomaly to account for raised alkaline phosphatase level. An examination was then made of other sibs as well as parents and the findings are briefly reported.