Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cornelia de Lange syndrome is a congenital malformation characterized by severe growth failure, mental retardation, and multiple physical anomalies. A variety of gastrointestinal anomalies have been described, including malrotation, colonic duplication, and nonfixation of the colon. Two patients with Cornelia de Lange syndrome presented to our institution with acute distal bowel obstruction. In both cases, emergency laparotomy showed cecal volvulus with necrosis of the terminal ileum, cecum, and ascending colon, secondary to nonfixation of the colon. Resection and an end-ileostomy were performed and later successfully reversed in both patients. Intestinal obstruction is a known cause of death in these children, and nonfixation of the colon has been identified during autopsy. Parents of children with Cornelia de Lange syndrome should be counseled as to the possibility of bowel obstruction resulting from cecal volvulus. This awareness may lead to earlier identification and treatment of this potentially lethal gastrointestinal tract anomaly.
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PMID:Cecal volvulus in the Cornelia de Lange syndrome. 780 58

Colonic volvulus in children is a rare, but serious and important differential diagnosis in acute abdominal illness. Our patient with Cornelia de Lange's syndrome, was admitted with an acute onset of abdominal pain and in a critical condition. Explorative laparotomy revealed a caecal volvulus with necrosis of the distal ileum, caecum and proximal colon. The syndrome is characterized by typical facial expression, both growth and mental retardation, and various gastrointestinal and cardiac anomalies. Predisposing factors contributing to volvulus in this syndrome are mental retardation and a higher incidence of malrotation and nonfixation of the caecum and ascending colon. The parents of children with Cornelia de Lange's syndrome should therefore be counselled so that they are able to provide essential information in the event of their children experiencing acute illness.
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PMID:[Cecal volvulus as a complication in Cornelia de Lange syndrome. A case report and literature review]. 961 83

Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype-phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made.
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PMID:Natural history of aging in Cornelia de Lange syndrome. 1764 42

Two cases of cecal volvulus in children with mental disability are described. Case 1: a 3-year-old girl with trisomy 18 was admitted with abdominal pain and vomiting. She had received left lateral segmentectomy 6 months earlier because of hepatoblastoma. Release of the cecal volvulus followed by the fixation of the cecum and ascending colon to the right retroperitonium was performed. Case 2: a 15-month-old boy with Cornelia de Lange syndrome who had undergone a standard Nissen's fundoplication. On the sixth postoperative day, progressive abdominal distention developed. Abdominal color Doppler ultrasonography from the right rear side revealed a clockwise-twisted ileocecal artery and vein and a dilated colon with tapering configuration. On the ninth postoperative day, emergent release of the cecal volvulus followed by ascending colostomy through a perforation site was performed. Approximately 40 children with cecal volvulus have so far been reported, of whom 13 are mentally disabled. We speculated that in the cases reported here, distention of the intestine accompanying the mental disability and the previous surgery contributed to the development of cecal volvulus in addition to the prerequisite of abnormal mobility of the cecum. Pediatric surgeons should consider the cecal volvulus as a cause of intestinal obstruction in mentally disabled children.
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PMID:Cecal volvulus in children with mental disability. 1765 54

To identify causes of death (COD) in propositi with Cornelia de Lange syndrome (CdLS) at various ages, and to develop guidelines to improve management and avoid morbidity and mortality, we retrospectively reviewed a total of 426 propositi with confirmed clinical diagnoses of CdLS in our database who died in a 41-year period between 1966 and 2007. Of these, 295 had an identifiable COD reported to us. Clinical, laboratory, and complete autopsy data were completed on 41, of which 38 were obtainable, an additional 19 had autopsies that only documented the COD, and 45 propositi had surgical, imaging, or terminal event clinical documentation of their COD. Proband ages ranged from fetuses (21-40 weeks gestation) to 61 years. A literature review was undertaken to identify all reported causes of death in CdLS individuals. In our cohort of 295 propositi with a known COD, respiratory causes including aspiration/reflux and pneumonias were the most common primary causes (31%), followed by gastrointestinal disease, including obstruction/volvulus (19%). Congenital anomalies accounted for 15% of deaths and included congenital diaphragmatic hernia and congenital heart defects. Acquired cardiac disease accounted for 3% of deaths. Neurological causes and accidents each accounted for 8%, sepsis for 4%, cancer for 2%, renal disease for 1.7%, and other causes, 9% of deaths. We also present 21 representative clinical cases for illustration. This comprehensive review has identified important etiologies contributing to the morbidity and mortality in this population that will provide for an improved understanding of clinical complications, and management for children and adults with CdLS.
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PMID:Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. 2206 64