A clinical and neuropathological study of a patient with abrachia (congenital absence of both arms).
This paper presents the life history and clinical history of a male patient with abrachia (congenital absence of both arms), who died at the age of 67 as a result of compression of the thoracic spinal cord caused by gibbus formation. Neuropathological examination of the spinal cord revealed unusual changes in the cervical and high-thoracic cord segments: accumulations of ependymal cells, strikingly few motor anterior horn cells and a chaotic arrangement of cell systems, along with complete absence of the cervical intumescence. These findings prompted some embryological considerations.
D000368:Aged; D001132:Arm / Q000002:abnormalities* / Q000196:embryology; D001921:Brain / Q000473:pathology; D006801:Humans; D008297:Male; D013116:Spinal Cord / Q000196:embryology / Q000473:pathology*