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Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo‐obstruction: POLIP syndrome
Author(s) -
Simon Lynn T.,
Horoupian Dikran S.,
Dorfman Leslie J.,
Marks Michael,
Herrick Maie Kaarsoo,
Wasserstein Philip,
Smith Marion E.
Publication year - 1990
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410280308
Subject(s) - polyneuropathy , leukoencephalopathy , medicine , intestinal pseudo obstruction , gastroenterology , pathology , disease
We describe 5 individuals (from three separate families) with a progressive neurological disorder characterized by sensorimotor peripheral polyneuropathy, cranial neuropathies (external opthalmoplegia, deafness), and the syndrome of chronic intestinal pseudo‐obstruction. Magnetic resonance imaging showed widespread abnormality of the cerebral and cerebellar white matter in the 2 patients studied. Autopsy examination in 3 revealed widespread endoneurial fibrosis and demyelination in the peripheral nervous system, possibly secondary to axonal atrophy, and poorly defined changes in cerebral white matter (leukoencephalopathy). The cranial nerves and spinal roots were less severely involved and the neurons in the brainstem and spinal cord were intact. The fatal gastrointestinal dysmotility was due to a severe visceral neuropathy. We suggest that these patients manifested a hereditary disorder with distinctive clinical, radiological, and neuropathological features, and propose the acronym POLIP to emphasize the distinctive tetrad of p olyneuropathy, o pthalmoplegia, l eukoencephalopathy, and i ntestinal p seudo‐obstruction.