[Multiple systemic atrophies, mental retardation, neurogenic amyotrophy and congenital bone fragility. A new neuro-generative disorder].
Five cases of a congenital neurological disorder are reported. Four patients, born after a breech delivery, belong to one sibship while the fifth patient is the only child in another family. The clinical features include quadriplegia, amyotrophy, a peripheral neuropathy, severe mental retardation and a subluxation of the hips. X-rays reveal diffuse osteoporosis and multiple spontaneous fractures. Autopsies in 3 patients showed multiple system atrophies involving the spinal cord and the cerebellum, coarse cerebral gyri and a marked reduction in volume of the white matter. These various pathological features are compared with the lesions found in a few other cases reported in the literature, none of which can be considered to be identical to the ones described. It is therefore felt that the condition under discussion represents a new syndrome to be classified, at least temporarily, within the group of multiple system atrophies.
D001284:Atrophy; D001847:Bone Diseases / Q000151:congenital*; D002493:Central Nervous System Diseases / Q000151:congenital* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008636:Mesencephalon / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital*; D010523:Peripheral Nervous System Diseases / Q000151:congenital*; D011782:Quadriplegia / Q000151:congenital; D013116:Spinal Cord / Q000473:pathology; D013577:Syndrome
Atrophies systématisées multiples, arriération mentale, amyotrophie neurogéne et fragilité osseuse congénitale. Une nouvell affection neuro-dégénérative