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Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy
Digestive and Liver Disease 45 (2013) 866
Contents lists available at ScienceDirect
Digestive and Liver Disease journal homepage: www.elsevier.com/locate/dld
Image of the Month
Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy Robert J. Huang a,∗ , Chohee Yun b , Linda Nguyen b a b
Department of Medicine, Stanford University Medical Center, Stanford, CA, United States Division of Gastroenterology and Hepatology, Stanford University Medical Center, Stanford, CA, United States
a r t i c l e
i n f o
Article history: Received 3 February 2013 Accepted 17 April 2013 Available online 29 June 2013
Hereditary hollow visceral myopathy (HHVM) is a rare genetic cause of intestinal pseudo-obstruction described sparingly in the literature [1]. A 21-year-old-male was diagnosed with HHVM based on clinical symptoms, gastroduodenal manometry demonstrating low-amplitude contractions in the stomach and small intestines, and intestinal histopathology demonstrating diffuse fibrous replacement of smooth muscle; his father was also affected, with similar manometric and histopathologic changes. He presented acutely to the Emergency Room with complaints of abdominal pain, recurrent emesis of feculent material, and severe gaseous distention. An abdominal radiograph was obtained, which appeared to demonstrate a massively dilated Fig. 2.
Fig. 1.
stomach and loop of bowel (Fig. 1). A follow-up computed tomography (CT) study was obtained, which confirmed the presence of a massively dilated stomach which extended from the left diaphragm down to the level of the pubic symphysis, as well as several massively dilated loops of distal small bowel with prominent air-fluid levels, and the absence of free air [Fig. 2(A) coronal view; (B) axial view]. The patient underwent nasogastric tube placement for decompression, and was begun on neostigmine therapy for his pseudo-obstruction. His symptoms improved gradually and he was discharged several days later. In summary, HHVD is a rare disease which can present with symptoms of severe pseudo-obstruction. Imaging often reveals bowel dilatation, which in cases such as this can be quite remarkable. Reference
∗ Corresponding author at: 300 Pasteur Drive, Lane 154, Stanford, CA 94305-1509, United States. Tel.: +1 650 723 4000. E-mail address: [email protected] (R.J. Huang).
[1] Schuffler MD, Pope II CE. Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies. Gastroenterology 1977;73:339–44.
1590-8658/$36.00 © 2013 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.dld.2013.04.005
Contents lists available at ScienceDirect
Digestive and Liver Disease journal homepage: www.elsevier.com/locate/dld
Image of the Month
Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy Robert J. Huang a,∗ , Chohee Yun b , Linda Nguyen b a b
Department of Medicine, Stanford University Medical Center, Stanford, CA, United States Division of Gastroenterology and Hepatology, Stanford University Medical Center, Stanford, CA, United States
a r t i c l e
i n f o
Article history: Received 3 February 2013 Accepted 17 April 2013 Available online 29 June 2013
Hereditary hollow visceral myopathy (HHVM) is a rare genetic cause of intestinal pseudo-obstruction described sparingly in the literature [1]. A 21-year-old-male was diagnosed with HHVM based on clinical symptoms, gastroduodenal manometry demonstrating low-amplitude contractions in the stomach and small intestines, and intestinal histopathology demonstrating diffuse fibrous replacement of smooth muscle; his father was also affected, with similar manometric and histopathologic changes. He presented acutely to the Emergency Room with complaints of abdominal pain, recurrent emesis of feculent material, and severe gaseous distention. An abdominal radiograph was obtained, which appeared to demonstrate a massively dilated Fig. 2.
Fig. 1.
stomach and loop of bowel (Fig. 1). A follow-up computed tomography (CT) study was obtained, which confirmed the presence of a massively dilated stomach which extended from the left diaphragm down to the level of the pubic symphysis, as well as several massively dilated loops of distal small bowel with prominent air-fluid levels, and the absence of free air [Fig. 2(A) coronal view; (B) axial view]. The patient underwent nasogastric tube placement for decompression, and was begun on neostigmine therapy for his pseudo-obstruction. His symptoms improved gradually and he was discharged several days later. In summary, HHVD is a rare disease which can present with symptoms of severe pseudo-obstruction. Imaging often reveals bowel dilatation, which in cases such as this can be quite remarkable. Reference
∗ Corresponding author at: 300 Pasteur Drive, Lane 154, Stanford, CA 94305-1509, United States. Tel.: +1 650 723 4000. E-mail address: [email protected] (R.J. Huang).
[1] Schuffler MD, Pope II CE. Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies. Gastroenterology 1977;73:339–44.
1590-8658/$36.00 © 2013 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.dld.2013.04.005