Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava.
Clinical and ultrastructural study of four cases of Coffin-Lowry syndrome (CLS), a heritable disorder with peculiar facies, stooped posture, vertebral changes, and mental retardation, is reported. Three of the four cases had myelopathy caused by calcification of the ligamenta flava in early adulthood. These patients demonstrated that CLS is a calcium pyrophosphate dihydrate crystal deposition disease, and it is postulated that a metabolic abnormality in collagen and in proteoglycans are responsible for some aspects of CLS.
Ishida
Y
Y
Department of Orthopaedic Surgery, Central Hospital, Aichi Prefectural Colony, Japan.
Oki
T
T
Ono
Y
Y
Nogami
H
H
D000293:Adolescent; D000328:Adult; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000473:pathology*; D002131:Calcium Pyrophosphate / Q000032:analysis*; D003460:Crystallization; D006801:Humans; D008607:Intellectual Disability; D008022:Ligaments / Q000000981:diagnostic imaging / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D008855:Microscopy, Electron, Scanning; D013122:Spinal Diseases; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D002131:Calcium Pyrophosphate