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Familial Visceral Myopathy

Hereditary Hollow Visceral Myopathy


Presentation

  • Diagnosis of this rare disease requires an awareness of the variable presentation and a careful histological examination of full-thickness sections of bowel.[ncbi.nlm.nih.gov]
  • Each presented near the age of 30 with massive dilatation of the colon and without clinical evidence of small intestinal involvement.[ncbi.nlm.nih.gov]
  • A 55-year-old woman with a history of bowel dysmotility presented with abdominal distension and peritonitis. Family history included premature deaths with intestinal symptomatology, suggesting autosomal dominant inheritance.[ncbi.nlm.nih.gov]
  • Due to the early age of presentation, VM affects patient both psychologically and physically.[ncbi.nlm.nih.gov]
  • All patients presented with chronic intestinal pseudo-obstruction affecting especially the entire small bowel. Histologic abnormalities involved intestinal smooth muscle, with degeneration and fibrosis of the muscularis propria.[ncbi.nlm.nih.gov]
Arachnodactyly
  • […] of Familial visceral myopathy : Megacystis Hydroureter Vesicoureteral reflux Cleft palate Microcephaly Round face Broad forehead Micrognathia Low-set, posteriorly rotated ears Prominent nasal bridge Anteverted nares Narrow chest Hyperparathyroidism Arachnodactyly[familydiagnosis.com]
  • Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - High nasal bridge - Hyperparathyroidy - Long hand / arachnodactyly[csbg.cnb.csic.es]
Aspiration
  • Duodenal aspirate must be cultured before operation. Evidence of bacterial overgrowth in the aspirate should prompt appropriate antibiotic treatment to reduce the likelihood of sepsis.[ncbi.nlm.nih.gov]
Pleural Effusion
  • Complaints of chylous ascites and chylous pleural effusion in connection with attacks of subileus are still present.[ncbi.nlm.nih.gov]
Photosensitivity
  • […] to visceral neuromyopathy which cause… … Wikipedia List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity[translate.academic.ru]
Joint Stiffness
  • stiffness Umbilical hernia Anonychia Aganglionic megacolon Abdominal distention ... ...[familydiagnosis.com]
  • stiffness / ankylosis - Round face - Short bowel - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Umbilical hernia[csbg.cnb.csic.es]
Macrocephaly
  • […] в других словарях: List of diseases (F) — A list of diseases in the English wikipedia.DiseasesTOC FaFab* Fabry s diseaseFacFace Faci* Faces syndrome * Facial asymmetry temporal seizures * Facial clefting corpus callosum agenesis * Facial dysmorphism macrocephaly[translate.academic.ru]
Round Face
  • Back to: « Visceral myopathy Symptoms List: Familial visceral myopathy Symptoms and clinical features may include: 2 Clinical Features of Familial visceral myopathy : Megacystis Hydroureter Vesicoureteral reflux Cleft palate Microcephaly Round face Broad[familydiagnosis.com]
  • face - Short bowel - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Umbilical hernia[csbg.cnb.csic.es]
Incomplete Bladder Emptying
  • Four patients had urinary tract involvement with dilatation of the ureters and/or incomplete bladder emptying.[ncbi.nlm.nih.gov]

Workup

  • Provides all the necessary tools to make a comprehensive diagnostic workup including data from ancillary techniques and molecular findings whenever appropriate.[books.google.com]
Pleural Effusion
  • Complaints of chylous ascites and chylous pleural effusion in connection with attacks of subileus are still present.[ncbi.nlm.nih.gov]

Treatment

  • Medical treatments can provide supportive measures but no curative treatment.[ncbi.nlm.nih.gov]
  • Medical treatments can provide supportive measures but no curative treatment. Affiliation Journal Details This article was published in the following journal.[bioportfolio.com]
  • Two patients were severely affected and needed home parenteral nutrition and surgical treatment; others were symptomatic but remained well.[ncbi.nlm.nih.gov]
  • Evidence of bacterial overgrowth in the aspirate should prompt appropriate antibiotic treatment to reduce the likelihood of sepsis.[ncbi.nlm.nih.gov]
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]

Prognosis

  • 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.[ncbi.nlm.nih.gov]
  • Prognosis - Familial visceral myopathy Not supplied. Treatment - Familial visceral myopathy Not supplied. Resources - Familial visceral myopathy Not supplied.[checkorphan.org]
  • Our family's history supports the impression that the dominant form of the disease usually has a good prognosis, although in fact it can he very variable, even in members of the same family.[docslide.com.br]
  • Prognosis for hollow visceral myopathy is poorer in the neonatal period than in childhood or adulthood. 7 Gastrointestinal involvement seems to be the limiting factor in prognosis of such children as parentral nutrition with its associated complications[jpma.org.pk]

Etiology

  • Kaschula ] - Department of Pathology, Red Cross Childrens Hospital, University of Cape Town, Rondebosch, South Africa, South Africa خلاصه مقاله: â ‚Degenerative leiomyopathy (DL) is a distinctive form of acquired degenerative visceral myopathy of uncertain etiology[scipers.com]
  • […] intestinal obstruction without mechanical obstruction Usually a small bowel disorder but can occur anywhere in GI tract Ogilvie's syndrome (acute colonic pseudo-obstruction): abrupt onset of abdominal distension ( Radiol Med (Torino) 2005;109:370 ) Etiology[pathologyoutlines.com]
  • […] and the clinical response of the CIPO to the immunosupressive regimen of prednisolone and cyclosporin A suggest that the bowel muscle coat changes reflect an intestinal myopathy secondary to systemic lupus erythematosus, and may have an auto-immune etiology[thedoctorsdoctor.com]

Epidemiology

  • Familial hollow visceral myopathy - Hereditary hollow visceral myopathy - Megaduodenum and/or megacystis Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease Classification (ICD10): - Diseases of the digestive system - Epidemiological[csbg.cnb.csic.es]
  • This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.[bioportfolio.com]
Sex distribution
Age distribution

Pathophysiology

  • Specific sections deal with Physiology and Pathophysiology, Clinical Presentation of Disease, Clinical Manifestations and Management (discussing the Mouth and Esophagus, The Stomach and Duodenum, The Intestine, and The Pancreas), Diagnosis of Gastrointestinal[books.google.com]

Prevention

  • […] symptoms * Urinary retention * Vomiting * Constipation * Diarrhea * Abdominal pain * Dilated ureter * Reduced abdominal muscles Causes - Familial visceral myopathy * Abdominal pain * Asymptomatic * Constipation * Diarrhea * Urinary retention * Vomiting Prevention[checkorphan.org]
  • TPN format is typically changed depending on loss/gain of weight and bloodwork results, and is specially formulated to meet each individual patient's needs. [14] Use of octreotide has been described. [15] [16] Cannabis has long been known to limit or prevent[en.wikipedia.org]

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