MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.

Introduction: Primary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorder. MIRAGE is a recently described syndrome with PAI and multisystem involvement. Case Presentation: A preterm female neonate presenting with PAI and persistent severe thrombocytopenia was diagnosed to have MIRAGE syndrome due to a de novo pathogenic variant c.3406G>C (p. Glu1136Gln) in the SAMD9 gene. In the first year of life, she had recurrent respiratory and gastrointestinal infection causing failure to thrive. At 17 months, she suffered recurrent intussusception requiring treatment with parenteral nutrition and high-dose steroids. Subsequently, she established oral feeds with hydrolysed formula and demonstrated good weight gain. Conclusion: In neonates presenting with PAI and associated multisystem involvement, a thoughtful approach and genetic testing is valuable in discerning an etiological diagnosis. This case of MIRAGE adds to the spectrum of reported cases and is the first to report on recurrent intussusception and its management with high-dose steroids.

Combined pancreatic and gastric heterotopia in small intestine presenting as intussusception-A rare congenital anomaly.

Pancreatic and gastric heterotopias are rare congenital anomalies which have been reported throughout the length of the gastrointestinal tract. Combined gastric and pancreatic heterotopias, although very rare, have been described mainly in the duodenum followed by jejunum with ileum being a rare site. The reported incidence of this combined heterotopias is low, ranging from <1% to 13%. Extensive literature search has revealed that only Four cases of combined pancreatic and gastric heterotopias have been reported in the small intestine till date. Hence, we report this case for its rarity and unusual presentation as intussusception in a young male.

Peutz-Jeghers syndrome: need for early screening.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer-predisposing condition characterised by intestinal hamartomatous polyps and distinct melanin depositions in skin and mucosa. Small intestinal cancer in patients with PJS usually presents by the third decade. A 7-year-old-PJS boy presented with recurrent episodes of colicky abdominal pain and melena requiring repeated blood transfusions. Abdominal CT scan revealed multiple jejunal polyps with jejunoileal intussusception. On exploration, the intussuscepted bowel was resected along with its mesentery and anastomosed. Simultaneously, multiple enterotomies with resection of palpable polyps were performed. The resected bowel showed well-differentiated stage 2A adenocarcinoma with clear resected margins. Postoperatively, the complaints were relieved. On follow-up, he was asymptomatic and is now on yearly cancer surveillance. This is probably the youngest reported case of small bowel cancer in PJS.

A Case of Congenital Infantile Fibrosarcoma of the Bowel Presenting as a Neonatal Intussusception.

Neonatal intussusception of the intestinal tract is rare. However, most neonatal intussusceptions have an organic lead point. For the lead point to be a neoplasm is extremely rare. We report a case that presented with neonatal intussusception with a congenital infantile fibrosarcoma as the lead point. The detection of ETV6-NTRK3 gene fusion was useful, although the definitive diagnosis was achieved by a comprehensive evaluation including this gene analysis, standard histology and immunohistochemistry. Neonatal intussusception should be suspected to be caused by a neoplasm. If pathological diagnosis is difficult, molecular analysis should be utilized to diagnose congenital infantile fibrosarcoma.

Abdomen agudo secundario a invaginación apendicular / Acute abdomen secondary to appendiceal intussusception

La invaginación apendicular es una entidad rara que puede ocurrir a cualquier edad. Actualmente, están descritos pocos casos, en su mayoría hallazgos intraoperatorios. La conducta terapéutica suele ser quirúrgica, variando desde una apendicectomía hasta una hemicolectomía, principalmente para la toma de biopsia y descartar neoplasias. Se presentan 3 casos de ni˜nos menores de 14 a˜nos intervenidos por cuadro de dolor abdominal agudo localizado en la fosa iliaca derecha, uno de ellos con diagnóstico preoperatorio mediante ecografía y los demás con hallazgo intraoperatorio de invaginación del apéndice cecal, con apendicitis aguda confirmada histológicamente

Appendiceal intussusception is a rare condition that can occur at any age. Only a few cases have been reported, and most are found during surgery. The therapeutic approach is usually surgical, ranging from an appendectomy to a hemicolectomy, primarily for biopsy and to rule out possible malignancy. Three cases of children under 14 years who underwent surgery for acute abdominal pain located in the right iliac fossa are presented; one with preoperative diagnosis by ultrasound, and the other two with positive intraoperative findings of intussusception of the cecal appendix, with acute appendicitis being histologically confirmed

Gastrointestinal ultrasonography of normal Standardbred neonates and frequency of asymptomatic intussusceptions.

BACKGROUND: Ultrasonographic appearance of the gastrointestinal (GI) tract of equine neonates has not been completely described. OBJECTIVES: To describe (1) sonographic characteristics of the GI segments in normal nonsedated equine neonates, (2) intra- and interobserver variation in wall thickness, and (3) the sonographic appearance of asymptomatic intussusceptions, and (4) to compare age and sonographic findings of foals with and without asymptomatic intussusceptions. ANIMALS: Eighteen healthy Standardbred foals ≤5 days of age. METHODS: Prospective, cross-sectional blinded study. Gastrointestinal sonograms were performed stall-side. Intraobserver variability in wall thickness measurements was determined by calculating the coefficient of variation (CV). The Bland-Altman method was used to assess interobserver bias. Student's t-test and Fisher's exact test were used to test the association among presence of intussusceptions, age, and selected sonographic findings. RESULTS: The reference ranges (95% predictive interval) for wall thickness were 1.6-3.6 mm for the stomach, 1.9-3.2 mm for the duodenum, 1.9-3.1 mm for the jejunum, 1.3-2.2 mm for the colon, and 0.8-2.7 mm for the cecum. Intraobserver wall thickness CV ranged from 8 to 21% for the 2 observers for 5 gastrointestinal segments. The interobserver bias for wall thickness measurements was not significant except for the stomach (0.14 mm, P < .05) and duodenum (0.29 mm, P < .05). Diagnostic images of mural blood flow could not be obtained. Asymptomatic intussusceptions were found in 10/18 neonates. Associations between sonographic variables or age and the presence of intussusceptions were not found. CONCLUSIONS AND CLINICAL IMPORTANCE: Sonographic characteristics of the GI tract of normal Standardbred neonates can be useful in evaluating ill foals. Asymptomatic small intestinal intussusceptions occur in normal Standardbred neonates.

Beckwith-Wiedemann syndrome, delayed abdominal wall closure, and neonatal intussusception--case report and literature review.

We present the extremely rare case of a male newborn with Beckwith-Wiedemann Syndrome (BWS) presenting as delayed abdominal wall closure and neonatal intussusception. Fetal ultrasound had shown omphalocele that resolved spontaneously. When feeding was attempted, he had various episodes of vomiting. An x-ray showed signs of high bowel obstruction. Jejunal intussusception was found on laparotomy. Enterectomy and primary jejuno-jejunal anastomosis was performed. During post-operative period subtle physical findings became prominent: plain hemangioma, posterior helical indentations, and macroglossia. Cardiac ultrasonography showed a patent foramen oval with small left-to-right shunt. Ultrasonography showed renal hyperplasia. Genetic study showed hypomethylation of DMR2 region of 11p15 chromosome.

Jejunal atresia in a neonate due to intrauterine intussusception.

We report a female neonate, who presented with abdominal distension and failure to pass meconium. Antenatal ultrasound at 32 weeks gestation and postnatal ultrasound on day1 suggested intestinal obstruction. During laparatomy, atresia of distal jejunum was found. The lumen of the distal segment contained an intussusceptum. Resection of the blind ends was done and end-to-end anastomosis was performed.

Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception.

We present an exceptional association of splenogonadal fusion, Moebius syndrome, and intestinal intussusception. At the age of 1 year, the patient presented with vomiting, bloody stools, and abdominal distension. He underwent a laparotomy that revealed an ileo-ileal intussusception. Three days later, he underwent a new surgery for the reduction of a suspected inguinal hernia. A dark-red tubular structure consisting of splenic tissue was seen passing down through the processus vaginalis and attaching onto the left testicle. Owing to the rarity of the splenogonadal fusion, each case should be reported for a better knowledge of its etiopathogenesis, clinical characteristic and associations.

Meckel's diverticulum induced intrauterine intussusception associated with ileal atresia complicated by meconium peritonitis.

Intrauterine intussusception with a leading point of Meckel's diverticulum is a rare cause of ileal atresia, which may cause bowel obstruction and perforation. We report such a case complicated by meconium peritonitis. The fetal ultrasonogram revealed ascites, dilated bowel loops and intra-abdominal calcification at a gestational age of 30 weeks. The patient was delivered at 37 weeks and laparotomy was performed to manage the intestinal obstruction. The operative findings showed that Meckel's diverticulum had induced intussusception associated with the ileal atresia with meconium peritonitis. The ileum was resected with end-to-end anastomosis. The postoperative course was uneventful. In this patient, ascites and intraperitoneal calcification were caused by ileal atresia, which may have been induced by intrauterine intussusception.

[Intrauterine intussusception causing intestinal atresia during pregnancy]. / Invagination intestinale aiguë anténatale et atrésie du grêle.

CASE REPORT: A case of intrauterine intussusception causing ileal atresia is reported. The neonate presented at the age of one day with bilious vomiting, failure to pass meconium and progressive abdominal distension. A clinical diagnosis of intestinal obstruction was made, and was confirmed by plain abdominal radiographs. At laparotomy, atresia of the terminal ileum was found. The lumen of the resected distal segment contained an intussusceptum. The blind ends were resected and an anastomosis was performed. Recovery was uneventful. COMMENTS: Intrauterine bowel intussusception is a rare clinical entity. When intussusception occurs in the foetus and the time elapsed is enough to allow for gangrene and resorption of the intussuscepted portions of the bowel, intestinal atresia may result. CONCLUSIONS: The careful examination of the distal blind end of the ileum aids to obtain a correct classification and etiologic diagnosis of the atresia.

[Prenatal intestinal invagination. Presentation of a case and review of the literature]. / Invagination intestinale prénatale. Présentation d'un cas et revue de la littérature.

We report a case of intrauterine intussusception in a female newborn. Despite the absence of intestinal atresia or any sign of ischemic necrosis, the manual reduction of the intussusception was impossible because of the multiple adhesions developed in the prenatal period. Laparotomy was done at the age of 10 days, the lesion was resected and end-to-end anastomosis was performed. The postoperative course was uneventful.

Myoepithelial hamartoma of the ileum causing intussusception in an infant.

Intussusception is a relatively common pediatric gastrointestinal emergency, although the etiology in most cases remains unknown. In a small number of cases the lead point is a tumor or tumor-like lesion of the small bowel. We report an unusual case of a myoepithelial hamartoma of the ileum causing an intussusception in a 4-month-old boy. This is the second such report in the literature.

Cecal duplications: a rare cause for secondary intussusception.

Duplications of the alimentary tract are rare congenital anomalies that may occur at any level from mouth to anus. While the oesophagus and the ileum are the most common sites, duplications of the colon are rare. Two cases of ileocolic intussusceptions in 8-month-old girl and 6-month-old boy who were admitted to our hospital with acute abdomen findings are presented. Intraoperatively, cecal cystic duplications leading intussusception were revealed. Intussusception is one of the most important surgical emergence in infancy and typically, it does not involve a lead point in childhood. Although duplication cyst may act as lead point, the review of literature reveals its rarity.

Perinatal intussusception in premature infants.

Intussusception is common in infants aged 5 to 18 months, but there have been only 12 reports of its occurrence among premature infants. Nine of these previously reported cases with adequate data and one new case are reviewed. Many of the infants were believed to have necrotizing enterocolitis, leading to an average 12-day interval between the onset of signs and the operation. Bilious emesis or nasogastric contents, bloody stool, and intestinal dilation without pneumatosis intestinalis were common. A contrast enema showed the intussusception in only 1 of 7 cases. Most cases were diagnosed in the operating room and underwent successful primary anastomosis, with no recurrences. A pathological lead point was identified in 2 of the 10 cases. The overall mortality rate was 23%; the one death since 1970 was secondary to attempted hydrostatic reduction. These cases may represent what, in the absence of premature delivery, would have been the intrauterine development of intussusception likely leading to small bowel atresia.

Postnatal intussusception in a premature infant, causing jejunal atresia.

The authors report on a 5-week-old boy who presented with bilious gastric aspirates. He became intolerant to feedings after 1 week of adequate feeding and passage of stools. Based on clinical and radiological findings, the diagnosis of intestinal obstruction was made. During laparotomy, atresia of the proximal jejunum was found. The lumen of the distal segment contained an intussusceptum. The blind ends were resected, and end-to-end anastomosis was performed.