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Inherited syndrome characterized by progressive deafness, neuropathy, digestive and potential cardiac involvement.

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Deafness, Mesenteric Diverticula of Small Bowel, and Neuropathy Syndrome.

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Fewer than 10 cases reported in the literature.

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Autosomal recessive.

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Features include digestive signs (small bowel diverticula, gastric motility loss, jejunoileal ulcerations, fat malabsorption, chronic diarrhea), progressive neuropathy, hemiplegia, and progressive sensorineural deafness (possibly due to cochleosaccular degeneration). Unexplained tachycardia and loss of the carotid sinus reflex may occur.

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Evaluate neurologic function, particularly the severity of the neuropathy. Evaluate nutritional status and hydration (clinical, laboratory, including albumin, electrolytes, creatinine serum level, and urea). Perioperative cardiac monitoring (including invasive blood pressure monitoring if necessary) may be considered. A rapid sequence induction is recommended because of a high risk of aspiration secondary to abnormal gastric motility. Avoid succinylcholine in case of neuropathy.

Groll A, Hirschowitz BI: Steatorrhea and familial deafness in two siblings. Clin Res 14:47, 1966.
Potasman I, Stermer E, Levy N, et al: The Groll-Hirschowitz syndrome. Clin Genet 28:76, 1985.  [PubMed: 4028504]

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