The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital condition that falls within the spectrum of visceral myopathies. It is characterized by the presence of megacystis, microcolon, and hypoperistalsis, which are secondary to gastrointestinal and urinary system dysmotility. It is frequently associated with other alterations in the gastrointestinal and genitourinary tracts. Although it is possible to make the diagnosis in the prenatal period, most cases are diagnosed after birth through genetic and imaging studies. Advances in treatment have led to a progressive increase in survival rates. We present the case of a newborn with congenital alterations described prenatally and with imaging findings characteristic of the syndrome.

BACKGROUND Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is an autosomal recessive disease caused by thymidine phosphorylase deficiency leading to progressive gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Although liver transplantation corrects thymidine phosphorylase deficiency, intestinal deficiency of the enzyme persists. Retrospective chart review was carried out to obtain clinical, biochemical, and pathological details. CASE REPORT We present a case of liver and subsequent intestine transplant in a 28-year-old man with MNGIE syndrome with gastrointestinal dysmotility, inability to walk, leukoencephalopathy, ptosis, cachexia, and elevated serum thymidine. To halt progression of neurologic deficit, he first received a left-lobe partial liver transplantation. Although his motor deficit improved, gastrointestinal dysmotility persisted, requiring total parenteral nutrition. After exhaustive intestinal rehabilitation, he was listed for intestine transplantation. Two-and-half years after liver transplantation, he received an intestine transplant. At 4 years after LT and 20 months after the intestine transplant, he remains off parenteral nutrition and is slowly gaining weight. CONCLUSIONS This is the first reported case of mitochondrial neurogastrointestinal encephalomyopathy to undergo successful sequential liver and intestine transplantation.

BACKGROUND: Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal disorder characterized by impaired propulsion of the digestive tract and associated with symptoms of intestinal obstruction, despite the absence of obstructive lesions. CIPO includes several diseases. However, definitive diagnosis of its etiology is difficult only with symptoms or imaging findings.
METHODS: A 56-year-old man was referred to our hospital due to a 3-year history of continuous abdominal distention. Imaging, including computed tomography of the abdomen, and endoscopy revealed marked dilatation of the entire small intestine without any obstruction point. Therefore, he was diagnosed with CIPO. Since medical therapy didn\'t improve his symptoms, enterostomy and percutaneous endoscopic gastro-jejunostomy were performed. These procedures improved abdominal symptoms. However, he required home central venous nutrition due to dehydration. The pathological findings of full-thickness biopsies of the small intestine taken during surgery revealed decreased number and degeneration of ganglion cells in the normal plexus. These findings led to a final diagnosis of CIPO due to acquired isolated hypoganglionosis (AIHG).
CONCLUSIONS: Here, we report the case of a patient with CIPO secondary to adult-onset AIHG of the small intestine. Since AIHG cannot be solely diagnosed using clinical findings, biopsy is important for its diagnosis.

A 43-year-old woman experienced acute nausea, diarrhea, and abdominal pain, leading her to our hospital. No relevant medical history or physical abnormalities were noted. Symptoms persisted for a month, causing weight loss and abdominal bloating. CT scans revealed distension throughout the gastrointestinal tract without stenosis. Intestinal pseudo-obstruction and aerophagia were suspected. MR enterography confirmed normal gastric and intestinal motility, diagnosing the condition as aerophagia-induced gastrointestinal distention. This case underscores the value of MR enterography in assessing intestinal motility and differentiating between intestinal pseudo-obstruction and aerophagia.

Patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a mitochondrial disease, develop various types of organ failure, including intestinal pseudo-obstruction (IPO). We treated a patient with IPO that improved with total parenteral nutrition.  A 20-year-old woman with a two-year history of diabetes mellitus was taking sitagliptin but her hemoglobin A1c (HbA1c) levels began increasing. After receiving metformin, she suffered a stroke-like attack and was diagnosed with MELAS. After persistent anorexia, she presented with symptoms of IPO, such as vomiting and gastrointestinal dilatation. After about 10 days of total parenteral nutrition, intestinal peristalsis improved and bowel movements resumed. She was able to resume her normal diet, and glycemic control with insulin glargine has allowed her to return to her daily life without gastrointestinal symptoms for over six months. Total parenteral nutrition may be effective for MELAS with IPO, and good glycemic control can prevent the need for incretin-related drugs, thus reducing the likelihood of recurrent IPO.

Chronic intestinal pseudo-obstruction (CIPO) is a rare syndrome characterized by signs of intestinal obstruction lasting for 6 months or more, in the absence of a definitive cause of obstruction. We report a case of CIPO in a 49-year-old female patient with a 6-month history of ongoing irregular bowel movements, manifested as constipation and diarrhea accompanied by abdominal pain and bloated feeling. Contrast-enhanced abdominal computed tomography and magnetic resonance enterography revealed focal thickening of a segment of the lienal flexure and intermittent areas of wider and narrower caliber along the sigmoid colon. No signs of a definitive cause of obstruction were found, but evidence for dolichosigma was revealed, which was later confirmed with colonoscopy. Due to persisting symptoms, the patient agreed to elective resection of the sigmoid colon. Following the procedure, symptoms regressed with a significant improvement in the quality of life. The patient has been regularly monitored in an outpatient setting and reports absence of the symptoms since the procedure. Pathophysiology of the resected section revealed more prominent lymphatic tissue, follicular arrangement, and reactively altered germinal centers, which can suggest CIPO.

BACKGROUND: Intestinal pseudo-obstruction (IPO) is a rare disease, and its clinical manifestations can resemble mechanical intestinal obstruction leading to unnecessary and potentially harmful surgery. Certain autoimmune diseases have been associated with IPO, however, cases secondary to Sjögren\'s syndrome (SjS) are especially rare.
METHODS: We described the first case of SjS-associated acute IPO in pregnancy, which was successfully treated with combined immunosuppressive therapy and resulted in an uneventful caesarean delivery.
CONCLUSIONS: Women with SjS is likely to experience more complications during pregnancy, and IPO rather than the classic symptoms could be the first sign of SjS flares. IPO should be suspected in patients with unrelenting symptoms of small bowel obstruction, and a multidisciplinary approach can provide optimal management of such high-risk pregnancies.

Sarcina ventriculi is an anaerobic gram-positive coccus that can resist the acidic media of the stomach and cause gastrointestinal symptoms. Here, we report the case of a 43-year-old male patient with a history of schizophrenia presenting with abdominal distention, nausea, vomiting, early satiety, and weight loss. Computed tomography of the abdomen and pelvis with contrast revealed a severely dilated stomach and signs of gastric outlet obstruction on multiple occasions. The endoscopic evaluation showed a dilated stomach, and biopsies revealed non-specific gastritis, negative Helicobacter pylori, and positive S. ventriculi with metaplasia. Medical treatment with proton pump inhibitors, pro-kinetics, ciprofloxacin, and metronidazole failed to improve his symptoms. Finally, the patient was managed surgically with distal gastrectomy with Roux en Y reconstruction, and gastrostomy tube placement was done with satisfactory improvement in his symptoms.

Pheochromocytomas can present with various symptoms. Nonspecific manifestations of pheochromocytoma include intestinal pseudo-obstruction and weight loss. Here, we present a case of pheochromocytoma in which prolonged intestinal pseudo-obstruction due to excess catecholamines was one of the factors leading to the development of a liver abscess. An 18-year-old male patient with a history of status epilepticus and severe intellectual disability was transferred to our hospital for a thorough examination of fever and constipation that had lasted for 2 months. When admitted to our hospital, he had fever, and his body mass index was 9.5 kg/m2. Upon comprehensive examination of the patient\'s fever, the blood culture was found positive for Bacteroides. Computed tomography showed findings of intestinal pseudo-obstruction and a low density region in the liver that indicated a liver abscess. Imaging studies also revealed a right adrenal mass and endocrinological test showed elevated plasma norepinephrine and urine normetanephrine levels. In addition, the right adrenal mass showed uptake on 123I-metaiodobenzylguanidine scintigraphy. These findings led to a definite diagnosis of pheochromocytoma. The patient was eventually diagnosed with a pheochromocytoma coexisting with a liver abscess. After treating the liver abscess with antibiotics and ultrasound-guided drainage, an adrenalectomy was performed. The pathological findings were consistent with pheochromocytoma. Postoperatively, the catecholamine excess normalized and intestinal pseudo-obstruction and weight loss improved. We suspected that prolonged intestinal pseudo-obstruction resulted in bacterial translocation and development of a liver abscess. To the best of our knowledge, this is the first report of a pheochromocytoma associated with a liver abscess. Moreover, the clinical presentation of this patient was unusual for pheochromocytoma, as the patient did not have typical symptoms such as hypertension or tachycardia, but rather presented with constipation, intestinal pseudo-obstruction, and weight loss. This case provides valuable insight regarding the impact of catecholamine excess on the intestinal tract and body weight.

Bowel obstruction and nutrient deficiencies are commonly encountered complications seen during follow-up of patients with short bowel syndrome. It is rare to see vitamin B12 deficiency among micronutrient deficits. The onset of B12 deficiency can be insidious, with autonomic features preceding other symptoms. In this study, we report a case in which vitamin B12 deficiency presented with intestinal dysmotility mimicking mechanical bowel obstruction.