Familial intestinal degenerative neuropathy associated with chronic intestinal pseudo-obstruction
Article first published online: 1 DEC 2010
© 2010 Blackwell Publishing Ltd
Neurogastroenterology & Motility
Volume 23, Issue 4, pages 347–e159, April 2011
How to Cite
Ahlfors, F., Linander, H., Lindström, M., Veress, B. and Abrahamsson, H. (2011), Familial intestinal degenerative neuropathy associated with chronic intestinal pseudo-obstruction. Neurogastroenterology & Motility, 23: 347–e159. doi: 10.1111/j.1365-2982.2010.01638.x
- Issue published online: 11 MAR 2011
- Article first published online: 1 DEC 2010
- Received: 21 July 2010 Accepted for publication: 28 October 2010
- bacterial overgrowth;
- gastrointestinal motility;
- intestinal neuropathy;
- intestinal pseudo-obstruction;
- intestinal transit;
Background Few families with autosomal dominant forms of chronic idiopathic pseudo-obstruction (CIP) have been identified and reported.
Methods We compared two families by clinical, laboratory, histopathologic, and genealogical investigations. Ten patients (pts) (five women) from two families, A and B, both with a family history suggesting autosomal dominant CIP, were investigated.
Key Results All pts had chronic diarrhea, nine of ten pts had chronic abdominal pain and seven of ten chronic vomiting. Median age for onset of symptoms was 23 (A) and 34 years (B). None had dysphagia, urogenital, neurologic, or ocular symptoms. Small bowel transit and jejunal culture were abnormal in eight of nine. Manometry showed severe jejunal hypomotility in the fasting and fed state and absence of normal phase III in all nine pts and neuropathy-like duodenal alterations in eight of nine. Progress to overt CIP had occurred in six pts. Histopathologic re-evaluation (three pts) showed that criteria of visceral degenerative neuropathy were fulfilled in both families including intranuclear inclusions in all three pts. Genealogic exploration using the unique Swedish Register for Catechetical Meetings disclosed that the two families with all likelihood shared a male ancestor in the 1890s.
Conclusions & Inferences The compiled results with striking similarities between family A and B together with genealogy findings indicate that this is one, large kindred with a familial autosomal dominant form of intestinal degenerative neuropathy often progressing to CIP but without extra-intestinal manifestations. This is the fourth and, so far, the largest family reported with these characteristics.