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Type I Familial Visceral Myopathy Presenting with CT Findings of Superior Mesenteric Artery Syndrome in an Adolescent

Dranove, Jason E MD; Applegate, Kimberly MD; Croffie, Joseph M MD

Journal of Pediatric Gastroenterology and Nutrition: October 2009 - Volume 49 - Issue 4 - p 379
doi: 10.1097/MPG.0b013e3181b99df9
Image of the Month

Indiana University School of Medicine, Indianapolis, IN, USA

Address correspondence and reprint requests to Jason E. Dranove, MD, Clinical Fellow, Indiana University School of Medicine, Pediatric Gastroenterology, Hepatology, and Nutrition, 702 Barnhill Dr, ROC 4210, Indianapolis, IN 46205 (e-mail:

The authors report no conflicts of interest.

Submissions for the Image of the Month should include high-quality TIF endoscopic images of unusual or informative findings. In addition, 1 or 2 other associated photographs, such as radiological or pathological images, can be submitted. A brief description of no more than 200 words should accompany the images. Submissions are to be made online at, and will undergo peer review by members of the NASPGHAN Endoscopy and Procedures Committee, as well as by the Journal.

A 13-year-old female presented with a 9-month history of intermittent nausea and nonbilious vomiting. Physical examination and a comprehensive metabolic profile were normal. Upper endoscopy revealed a dilated duodenum. Abdominal computed tomography scan showed a markedly dilated stomach and distended duodenum that narrows as it crosses between the abdominal aorta and the superior mesenteric artery, consistent with superior mesenteric artery syndrome (Fig. 1A and B).

FIG. 1

FIG. 1

After failure of conservative treatment, the patient underwent a laparotomy, revealing marked dilation of the stomach and duodenum to the level of the ligament of Treitz. A duodenojejunostomy was performed. Full-thickness duodenal biopsy showed markedly abnormal muscularis propria with thin, atrophic smooth muscle fibers with significant muscle loss and replacement fibrosis (Fig. 2). These findings, in conjuction with a strong family history of similar findings, were consistent with type I familial visceral myopathy.

FIG. 2

FIG. 2

Familial visceral myopathy I, also known as hereditary megaduodenum and hollow visceral myopathy is characterized by autosomal dominant transmission with female predominance and a propensity for clinical presentation shortly after puberty. Classic findings include esophageal dilation, megaduodenum (often with radiographic findings that mimic superior mesenteric artery syndrome), a long, redundant, occasionally dilated colon, and occasional bladder muscle involvement (1). Treatment is usually surgical, with a duodenojejunostomy, because a trial of jejunal feedings often fails (2).

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1. Koletzki S, Schwarzer A. Other dysmotilities including chronic intestinal pseudo obstruction. In: Kleinman R, et al, eds. Walker's Pediatric Gastrointestinal Disease. Vol 1, 5th ed. Hamilton, Canada: BC Decker; 2008:694–6.
2. Anuras S, Shirazi S, Faulk D, et al. Surgical treatment in familial visceral myopathy. Ann Surg 1979; 198:306–310.
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