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August 1979

Spongy Degeneration of the CNS: An Instance of the Rare Juvenile Form

Author Affiliations

From the Department of Pathology, Tripler Army Medical Center, Moanalua, Hawaii (Dr Goodhue), the Department of Pathology, The G. N. Wilcox Memorial Hospital & Health Center, Inc, Lihue, Hawaii (Dr Couch), and the Departments of Pathology, The John A. Burns School of Medicine, The University of Hawaii, Honolulu, and The Queen's Medical Center, Honolulu (Dr Namiki). Dr Goodhue is now with the Department of Pathology, US Army Hospital, Fort Campbell, Ky.

Arch Neurol. 1979;36(8):481-484. doi:10.1001/archneur.1979.00500440051009

• To our knowledge, the juvenile form of spongy degeneration of the CNS (SD-CNS; van Bogaert-Bertrand disease) has been described previously only three times. We report the case of a 21¼-year-old Japanese woman who was first seen at the age of 11 with growth retardation, ptosis, and ophthalmoplegia. Her progressive neurodegenerative disease included retinitis pigmentosa, blindness, partial deafness, cerebellar dysfunction, hyporeflexia, and muscle wasting. Simultaneous endocrine defects were diabetes mellitus and probable hyperaldosteronism. Heart block developed later. She died of bronchopneumonia. Autopsy showed CNS stigmas typical of spongy degeneration. Additional findings included peripheral nerve demyelination, neurogenic muscle atrophy, pituitary and pancreatic atrophy, right adrenal agenesis, and a left adrenal cortical lipid-cell adenoma. To our knowledge, our patient was the oldest survivor, the first patient of Japanese ancestry, and had a unique concurrence of certain oculoendocrine defects.