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Bowel Dysfunction in Wolfram Syndrome

¹ Department of Neurology, Chiba University, Chiba, Japan
² Department of Urology, Chiba University, Chiba, Japan
³ Department of Gastroenterology, Chiba University, Chiba, Japan

Address correspondence to Ryuji Sakakibara, MD, Neurology Department, Chiba University, 1-8-1 Inohana Chuo-ku, Chiba 260-8670, Japan. E-mail: sakakibara@faculty.chiba-u.jp

The first 20% of the full text of this article appears below.

Bowel dysfunction is a common problem in patients with metabolic/neurological disorders and ranges from constipation and intestinal pseudo-obstruction to intractable fecal incontinence. However, the mechanism of it remains not entirely clear, although the bowel dysfunction severely affects the quality of life in the patients.

Here, we report on a 32-year-old man with clinically diagnosed Wolfram syndrome (WFS), which is thought to be caused by a WFS1 gene mutation that encodes wolframin, an endoplasmic reticulum calcium channel in neurons and pancreatic ß-cells. He also presented with severe bowel (urgent . . . [Full Text of this Article]

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