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A male child with the rumpshaker mutation, X‐linked spastic paraplegia/Pelizaeus‐Merzbacher disease and lysinuria
Author(s) -
Naidu S.,
Dlouhy S.R.,
Geraghty M.T.,
Hodes M.E.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005328019832
Subject(s) - spastic , paraplegia , hereditary spastic paraplegia , medicine , mutation , human genetics , pediatrics , genetics , physical therapy , biology , phenotype , cerebral palsy , spinal cord , gene , psychiatry
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 begun. Lysinuria, increased signal on cerebral T2‐weighted MRI imaging and the rumpshaker mutation (Ile186Thr) in his proteolipid protein gene, PLP, were found. When faced with these facts, the mother admitted that she was related to the family reported by Johnston and McKusick in 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.