Craniometaphysial dysplasia with leukoencephalopathy. A case report.
A case of craniometaphysial dysplasia with extensive degeneration of the cerebral white matter is presented. The cortex of the swollen part of the long bones was quite thin and there was striking trabecular atrophy. Both the vault and base of the skull showed marked thickening and sclerosis, leaving no interlaminal zone. It is probable that the diffuse degenerative change of the cerebral white matter with gliosis bears some resemblance to that produced by a circulatory disturbance of the great vein of Galen. Due to the narrowed foramen magnum, deformed atlase and axis, and the surrounding postoperative scar, the upper cervical cord was compressed, markedly atrophic and degenerated. Other segments of the cervical and thoracic cord displayed secondary wallerian degeneration and focal neurolytic lesions in the white matter. At the level of Th11 there was a pencil-like malacic lesion, suggesting an apparent interference of circulatory disturbance due possibly to the deformed vertebral column.
D000328:Adult; D001344:Autopsy; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000473:pathology*; D009896:Optic Atrophy / Q000473:pathology; D010024:Osteoporosis / Q000473:pathology*; D012886:Skull / Q000002:abnormalities / Q000473:pathology; D013117:Spinal Cord Compression / Q000473:pathology