Deafness-small bowel diverticulosis-neuropathy syndrome

Deafness-small bowel diverticulosis-neuropathy syndrome, also known as Guthrie syndrome, is an extremely rare inherited disorder characterized by the triad of progressive sensorineural hearing loss, small bowel diverticulosis, and progressive sensorimotor peripheral neuropathy. The condition affects multiple body systems, primarily the nervous system (both peripheral nerves and the auditory system) and the gastrointestinal tract. Sensorineural deafness typically develops progressively and may begin in young adulthood. The small bowel diverticulosis can lead to gastrointestinal complications including malabsorption, bacterial overgrowth, and potentially bowel perforation or obstruction. The peripheral neuropathy is progressive and affects both sensory and motor nerves, leading to weakness, numbness, and loss of reflexes in the extremities. This syndrome was first described in a small number of families, and the underlying genetic cause has not been fully elucidated. The condition appears to follow an autosomal recessive inheritance pattern based on reported familial cases. There is currently no specific curative treatment for this syndrome. Management is supportive and symptomatic, including hearing aids or cochlear implants for hearing loss, surgical or medical management of bowel diverticular complications, nutritional support for malabsorption, and physical therapy and supportive care for peripheral neuropathy. Given the progressive nature of the condition, regular monitoring by a multidisciplinary team including gastroenterologists, neurologists, and audiologists is recommended.

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