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)

A family with the autosomal dominant form of familial visceral myopathy is described involving four generations. The members illustrate several different clinical presentations including severe constipation, diarrhea, alternating constipation and diarrhea, volvulus, urinary tract infection, and retention of urine. One patient's history suggested that the uterus may have been involved. Diagnosis of this rare disease requires an awareness of the variable presentation and a careful histological examination of full-thickness sections of bowel. The potential pitfalls in both histological and clinical diagnosis of this condition are demonstrated in this family's history. The extensive involvement of small and large bowel in at least two family members is unusual in the autosomal dominant form of the disease, but their course has so far been favorable, lending further evidence to the impression that prognosis is good. This is of importance for genetic counseling of families who have this very rare disease.
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PMID:Familial visceral myopathy. A family with involvement of four generations. 173 71

Appendicitis is a common surgical abdominal disease with various presentations. Its diagnosis may be obscured by asymptomatic congenital anatomical anomalies like midgut malrotation. Midgut malrotation is a rare fetal anomaly resulting from incomplete or failure of midgut rotation and fixation. It is mostly presented with bowel obstruction or volvulus in early life. Presentation in adult is rare. Here, we report an elderly patient presented with left lower abdominal pain and urinary tract infection. Abdominal computed tomography revealed left-sided appendicitis with non-rotational-type midgut malrotation. Clinicians should bear in mind the possibility of underlying midgut malrotation, as appendicitis could be the first presentation of this rare congenital condition.
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PMID:Left-Sided Appendicitis in an Elderly Patient with Midgut Malrotation. 2701 86