A 37-year-old woman with constipation since childhood and an episode of fecal retention in the last six months.
Moderate obesity.
His family history included two brothers diagnosed with Crohn's disease.
She was admitted for the first time for study due to persistent pain in the right iliac fossa, abdominal distension and constipation intensification.
The patient also had 15 kg weight loss in 2 months, nausea and vomiting.
Both basic hematological, biochemical and coagulation tests were normal.
There was no increase in erythrocyte sedimentation rate or C-reactive protein.
Thyroid hormones were in normal range.
No episodes of seizures were detected.
Non-organ-specific antibodies were negative and microbiological studies in faeces were normal.
A simple abdominal X-ray showed dilation of the loops of the small intestine without air-fluid levels.
Doppler ultrasound and abdominal scan were normal.
The ileocolonoscopy showed a macroscopically normal terminal ileum, which did not present mucosal lesions in the anatomopathological study.
Enteroscopy with biopsies of gastric, duodenal and jejunal mucosa showed no pathological findings.
The opaque enema was not valued for the existence of feces.
No pathological findings were detected in the gastrointestinal transit.
The study of colonic markers with radiopaque markers showed that at 7 days, all except three transits in right iliac fossa, in the cecum area.
The isotopic gastric emptying study showed slowing.
During admission she presented food intolerance that did not improve with the administration of prokinetic drugs, requiring total parenteral nutrition.
Despite this, there was a clinical worsening so it was decided to perform exploratory laparotomy in order to obtain transparietal tissue material.
In the days prior to surgery, urinary incontinence appeared and was thoroughly evaluated by the Neurology Service, with a rigorously normal physical examination.
Spinal cord or root lesion was ruled out by means of a lumbosacral magnetic resonance imaging.
Intravenous urography and cystography showed no pathological findings.
During surgery, the right colon had a delustrated appearance and the cecum wall was slightly thickened.
There were few ascites whose subsequent study was negative for malignant tumor cells and showed no elevation of tumor markers.
Right hemicolectomy and ileo-transverse anastomosis were performed.
At the opening of the resected specimen, a 3 x 2 cm indurated area of the colon wall was macroscopically detected, with loss of folds in the mucosa as well as two erosions and multiple petechiae.
The appendix, ileum and iliac crest vessels showed no macroscopic changes.
The microscopic study of the ceco-colic wall, at the level of the indurated zone, showed a destructuring of the bundles of muscular fibers due to a decrease in the size of myocytes and edema.
Myocytes showed irregular edges, alternation between vacuolization and cytoplasmic condensation and low patency of the myofibers.
There were no alterations of the myenteric plexus and the neuronal population was the usual of the myenteric plexus and the submucosal plexus.
Mucosal erosions did not present microscopic specificity.
No vascular lesions were observed.
An extensive sampling of the colon wall showed similar patchy lesions of irregular distribution and extension, with predominant involvement of the internal muscle layer.
The ileum presented thinning of the muscular layers of its own but without the myocyte degenerative changes identified in the cecum and colon.
No intercellular fibrosis or inflammatory infiltrate was observed at any level.
Fifteen days after the intervention, the patient was admitted for a similar clinical condition to the previous one.
She did not present urinary incontinence again, although a normal urodynamic study was performed.
Bacterial overgrowth was ruled out by hydrogenated hydrophilic test.
Esophageal and anorectal mantles were normal.
New abdominal X-rays were performed after the administration of radiopaque markers which were persistently retained in the remaining colon and apparently not in the small intestine.
It was decided to perform total colectomy with ileostomy.
The surgical specimen included 8 cm of ileum.
There were no relevant gross lesions.
The histological study of the colon wall showed lesions similar to those described in previous hemicolectomy.
Terminal ileus had normal characteristics.
An ultrastructural examination of the small intestine and colon was carried out in which the myocytes of both organs showed decrease and disorder of the myofibers, vacuolization in the peripheral areas and paranuclear alterations of distribution.
The latter consisted of abnormal forms and occasionally hydropic changes in their matrix.
Histological and ultrastructural study of a gastric wall sample from another portion of the small intestine and striated muscle of the abdominal wall were normal.
An immunohistochemical study of the cecal wall and small bowel wall was performed with the markers listed in Table I. The expression of actin 1A4 was clearly pathological in the small intestine wall.
The internal muscular layer (bladder) showed positivity only in the innermost portion of its bundles that appeared as a positive ribet.
However, the outer muscle layer (longitudinal) was clearly stained.
The CD117 antigen (c-Kit) was positive, indicating the presence of normal interstitial cells of Cajal.
A study of the activity of mitochondrial respiratory chain complexes in an intestinal muscle homogenate was performed using the technique described previously (12), but this activity was normal.
In the mitochondrial DNA of striated muscle, the presence of single or multiple deletions was ruled out by Southern Blot technique.
Mitochondrial DNA could not be studied in the colon due to lack of signal in the sample.
She was admitted again two months later due to pain after eating foods that improved with cisapride.
During the 6 months she presented several clinical pictures in which pain prevailed, requiring a continuous infusion pump implantation of intradural catheter for chronic administration of opioid analgesics.
15 months after the initial diagnosis, the patient presented an acceptable digestive clinical situation.
However, one year after the initial diagnosis began to present loss of strength in extremities of proximal distribution and after performing a complete study of striated muscle as well as cerebral magnetic resonance imaging, both normal, was diagnosed with progressive incapacitating tetraparesis proximal type of course.
Approximately one year later she began with urinary incontinence and the urodynamic study was pathological.
The subsequent determination of thymidine and deoxyuridine in plasma was negative indicating normal activity of thymidine phosphorylase.
