Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome.

Abstract

We describe 5 individuals (from three separate families) with a progressive neurological disorder characterized by sensorimotor peripheral polyneuropathy, cranial neuropathies (external ophthalmoplegia, 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 polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction.

• Authors: L T Simon, D S Horoupian, L J Dorfman, M Marks, M K Herrick, P Wasserstein, M E Smith
• Journal: Annals of neurology (Ann Neurol) Vol. 28 Issue 3 Pg. 349-60 (Sep 1990) ISSN: 0364-5134 [Print] United States
• PMID: 2173474 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Brain (diagnostic imaging)
• Brain Diseases (complications, diagnostic imaging, genetics)
• Digestive System (diagnostic imaging)
• Female
• Humans
• Intestinal Pseudo-Obstruction (complications, genetics, pathology)
• Magnetic Resonance Imaging
• Male
• Ophthalmoplegia (complications, genetics, pathology)
• Pedigree
• Peripheral Nervous System Diseases (complications, genetics, pathology)
• Radiography
• Syndrome