Hereditary chronic intestinal pseudo-obstruction caused by a rare MYH11 mutation: A case report

Figure 1 Abdominal imaging findings. A: Upright abdominal radiograph showing an elevated right diaphragm, with dilated intestinal loops below the diaphragm containing significant content. Small bowel distension in the lower abdomen with multiple gas-fluid levels are also visible; B: Upper gastrointestinal contrast study showing marked dilatation of the duodenal bulb, and descending and horizontal segments, with the widest area measuring approximately 6 cm. No duodenal folds are observed.

Figure 2 Abdominal computed tomography imaging with barium contrast showing marked dilatation of the duodenum with contrast retention, displaced between the right lobe of the liver and diaphragm. The jejunum, ileum, and colon show varying degrees of widening, along with decreased bladder tension and visible ureter.

Figure 3  Abdominal magnetic resonance imaging (T2 coronal view) showing marked dilatation of the duodenum and varying degrees of widening of the jejunum and ileum.

Figure 4 Surgical resection of intestinal pathological specimens in 2008. The colonic mucosa shows muscular layer atrophy of the smooth muscle fibers, no significant reduction in ganglion cells, nerve fiber hyperplasia and disorganization, partial ganglion cell degeneration, and eosinophil infiltration.

Figure 5 Sanger sequencing validation of the mutation site in myosin (MYH11; NM_001040113. 2: C.5819del (p.Pro1940HisfsTer91). The top and bottom plots show the verification for the patient and the patient’s son, respectively. The red arrow indicates the mutation location, at the C nucleotide at position 5819 of the gene coding sequence.