Cerebello-thalamo-spinal degeneration in infancy: An unusual variant of werdnig-hoffmann disease

Abstract

A girl aged 23 months at death had failed to achieve normal motor development and was regarded clinically as a case of spastic cerebral palsy of unknown origin. Another sib had died at 28 months with similar clinical features. Neuropathological examination in the first case showed acute changes in the anterior horn cells, brain-stem nuclei, and thalamus, which were histologically typical of Werdnig-Hoffmann disease. The spinal cord changes were atypical in so far as the cervical segments were much more affected than the lumbar as regards loss of anterior horn cells. In myelin preparations, the spinal cord showed marked pallor of the antero-lateral areas, which was interpreted as the consequence of defective myelination rather than true tract degenerations. Supra-segmental lesions were particularly impressive in this brain. The cerebellum was small and showed mild diffuse atrophy of the granular layer, marked shrinkage of the Purkinje cells, gliosis of all the cortical layers and of the central white matter, especially in the hila of the dentate nuclei. The thalami showed an extensive loss of nerve cells, with corresponding gliosis, particularly in the lateral nuclei. It is suggested that this thalamic lesion was responsible for the abnormal EEG recorded in the later stages of this child's illness. These findings have been compared with those in a previously reported case of Werdnig-Hoffmann disease, which also showed unusually severe suprasegmental lesions.