A male child with the rumpshaker mutation, X‐linked spastic paraplegia/Pelizaeus‐Merzbacher disease and lysinuria

• Published in: Journal of inherited metabolic disease Vol. 20; no. 6; pp. 811 - 816
• Main Authors: Naidu, S., Dlouhy, S.R., Geraghty, M.T., Hodes, M.E.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01.11.1997; Springer
• Subjects: Aminoacid disorders; Biological and medical sciences; Brain - pathology; Child, Preschool; Deoxyribonucleases, Type II Site-Specific - metabolism; Diffuse Cerebral Sclerosis of Schilder - genetics; DNA - analysis; DNA - metabolism; Errors of metabolism; Genetic Linkage; Humans; Kidney - metabolism; Lysine - urine; Magnetic Resonance Imaging; Male; Medical sciences; Metabolic diseases; Mutation; Myelin Proteolipid Protein - genetics; Ornithine - metabolism; Pedigree; Spastic Paraplegia, Hereditary - genetics; X Chromosome; Human; Nervous system diseases; Pelizaeus-Merzbacher disease; Family study; Clinical form; Male; Nuclear magnetic resonance imaging; Genetic disease; Cerebral disorder; Case study; Association; Central nervous system disease; Degenerative disease; Neurological disorder; Child; Lysinuria
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1023/A:1005328019832

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.