Spongy degeneration of the nervous system

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Abstract
The clinical and pathological findings in 4 cases of spongy degeneration of the nervous system have been presented. Analysis of the 26 reported cases, 16 with histological data, reveals these patients to be a highly homogeneous group, both clinically and histologically. This disease has its onset in the 1st 10 months of life, affects both sexes equally, is familial, and occurs most frequently in Jewish people. The major clinical findings are severe motor and mental retardation with blindness and macrocephaly. Atony is a frequent early finding, with progression to a rigid decerebrate state. There is a high incidence of tremor, involuntary movements, convulsions, and extensor spasm. The course is progressive, with death usually occurring before 3 years of age. Macroscopic examination reveals the brain to be large and heavy. Microscopically there is a diffuse lack of myelin and a distinctive sponginess. In the cerebrum the sponginess is predominant at the junction of the cortex and white matter, with relative sparing of the corpus callosum and internal capsule. This change can involve the deep nuclear masses, brainstem, and spinal cord. The cerebellum is consistently involved, with spongy changes being most prominent in the lamina dissecans and with the Purkinje cells being apparently displaced into the molecular layer. More significant, perhaps, is the diffuse glial hypertrophy and hyperplasia. Numerous large, most often "naked" nuclei containing scanty chromatin but with distinct nuclear membranes are present, most prominently in the spongy areas. In spite of the diffuse lack of myelin no significant breakdown products or phagocytes were found. We favor the proposal of Blackwood and Cumings that this disease represents a failure of proper myelin formation rather than a demyelinating process. Finally, we concur with previous opinions that spongy degeneration of the nervous system merits a place as a nosologic entity and suggest that it should be considered in any case of infantile amaurotic idiocy when there is no macular lesion and especially when macrocephaly is a component of the clinical picture.

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