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)

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

Congenital anomalies such as positional anomalies of the right half of the colon are more common when compared to its left half. We report a rare case of congenital anomaly where the transverse colon was totally absent. Ascending colon continued as descending colon at the right colic flexure. Ascending and descending colons formed an inverted U shaped loop which was situated in the right half of the abdomen. The sigmoid colon began from the descending colon, on the right side of the midline and coursed to the left iliac fossa. The terminal part of ascending colon and entire descending colon had a persistent mesocolon. The jejunum and ileum were situated in the upper left part of the abdominal cavity. This anomaly can cause volvulus of the colon at any stage of life. Furthermore, the knowledge of this anomaly is very useful for radiologists, gastroenterologists and surgeons.
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PMID:Absence of transverse colon, persistent descending mesocolon, displaced small and large bowels: a rare congenital anomaly with a high risk of volvulus formation. 2554 28

Congenital anomalies of the digestive system represent a complicated topic concerning many medical specializations. The goal of this article is to describe two cases of children with mesenterium commune. First was an infant (5.5 months old female) who died shortly after being admitted to hospital with acute bronchitis, vomiting and diarrhoea. The autopsy revealed the cause of death--volvulus of the entire small intestine and the first portion of the large intestine with haemorrhagic infarsation of the intestinal wall in an infant with congenital anomaly of intestinal fixation--mesenterium commune. Second case was a 2.5 years old female after two heart surgeries, with pulmonary hypertension, who died suddenly at home. The cause of death was volvulus of a portion of the small intestine with haemorrhagic infarsation of the intestinal wall and also mesenterium commune. Congenital malpositions of the intestine originate due to malrotation and malfixation of the intestine during prenatal and early postnatal period. This wide range of the individuals developmental disorders always result in a condition where the topographical findings in the abdominal cavity are not as commonly found. Abnormally positioned intestines cannot develop a normal mesentery and are prone to volvulus, which represents the most serious complication with acute abdominal symptoms and when diagnosed late, it can lead to sudden death. Whilst performing autopsies such cases are rarely seen. However in forensic medicine and also in clinical practice it is important to consider intestinal malposition as a cause of acute abdomen.
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PMID:[Two sudden deaths of children with mesenterium commune -- a case report]. 2597 Dec 28

Bilious vomiting is often a presenting feature of upper intestinal obstruction in newborn. We present a case of intestinal obstruction in a newborn baby caused by abnormal vascular band arising from portal vein aneurysm in association with a midgut volvulus. Congenital anomalies of portovenous system are very rare, and it usually presents with portal hypertension in late infancy or childhood. In this particular child, the portal vein aneurysm contributed to intestinal obstruction due to both a failure of intestinal rotation and a mechanical band over the transverse colon.
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PMID:Intestinal obstruction with a twist: a rare case of congenital portal vein aneurysm causing intestinal obstruction. 3024 23