A MALE CHILD WITH THE RUMPSHAKER MUTATION, X-LINKED SPASTIC PARAPLEGIA PELIZAEUS-MERZBACHER DISEASE AND LYSINURIA

A 3.5-year-old boy had intact cognition, delayed walking, progressive spastic paraparesis and congenital nystagmus. The mother denied family history of any neurological disorders, so an extensive work-up was be gun. Lysinuria, increased signal on cerebral T2-weighted MRI imaging a nd the rumpshaker mutation (Ile(186)Thr) in his proteolipid protein ge ne, PLP, were found. When faced with these facts, the mother admitted that she was related to the family reported by Johnston and McKusick i n 1962 and Kobayashi in 1994, in whom this mutation has been reported. This is the first report of an abnormal MRI scan in this family.