Inherited syndrome characterized by Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy, and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). The potential for cardiac involvement has been suggested.
Deafness, Mesenteric Diverticula of Small Bowel, and Neuropathy Syndrome; Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome.
Fewer than 10 cases reported in the literature.
This medical condition was first described in 1972 by A Groll and Basil Isaac Hirschowitz (1925-2013). Dr Hirschowitz was an academic gastroenterologist from the University of Alabama at Birmingham (UAB). He is best known to have invented an improved optical fiber that allowed the creation of a useful flexible endoscope.
It is believed to be inherited as an autosomal recessive trait.
Demyelinization demonstrated by a peripheral nerve biopsy may explain the basis for the manifestations.
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.
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.
BI: Steatorrhea and familial deafness in two siblings. Clin Res 14:47, 1966.
et al: The Groll-Hirschowitz syndrome. Clin Genet