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]
@article{4dca8e7845a644898572be4c7ee202a4, title = "Type I familial visceral myopathy presenting with CT findings of superior mesenteric artery syndrome in an adolescent", author = "Dranove, {Jason E.} and Kimberly Applegate and Joseph Croffie", year [indiana.pure.elsevier.com]
Each presented near the age of 30 with massive dilatation of the colon and without clinical evidence of small intestinal involvement. [unboundmedicine.com]
Entire Body System
- Sepsis
The patient died from complications of familial visceral myopathy, sepsis, and generalized signet-ring cell carcinomatosis. [ncbi.nlm.nih.gov]
[…] monitor the catheter is working properly, check liver enzyme levels and look for signs of blood infections, as catheter blockage, liver damage, and infections of catheters are the main complications associated with long term TPN use and can result in sepsis [en.wikipedia.org]
Long-term TPN-related complications, including central venous catheter-associated sepsis, liver failure, and thromboembolic events, as well as posttransplantation complications are the major contributing factors to mortality and morbidity in CIP patients [abdominalkey.com]
- Disability
Please enable JS and disable any ad blocker [cairn.info]
In the patient we report here gastrointestinal symptoms are acceptably controlled with measures adopted after colectomy, but limb muscular weakness results in greater disability when compared to gut manifestations. [scielo.isciii.es]
A 12-year follow-up in sporadic inclusion body myositis: an end stage with major disabilities. Brain 2011; 134 (11): 3167-75. [ Links ] [scielo.cl]
Gastrointestinal
- Rectal Bleeding
This case, however, shows that visceral myopathy in extremely rare cases can present with rectal bleeding and changes of dysplasia seen in microscopic sections. [ghrnet.org]
Symptoms of GI disorders often include cramping, abdominal pain, inflammation of the lining of the large and/or small intestine, chronic diarrhea, rectal bleeding and weight loss. [en.wikipedia.org]
Cardiovascular
- Hypertension
There was no history of chronic illness including diabetes or hypertension. There was no pallor, icterus, cyanosis, edema or lymphadenopathy on physical examination. Abdomen was soft with no organomegaly on palpation. [ghrnet.org]
Neurologic
- Hyperactivity
[…] refluxMP:0014155absent olfactory epitheliumabsence of the epithelial cells that line the interior of the noseHP:0000337Broad foreheadMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity [pediascape.org]
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]
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]
Surgical treatment in familial visceral myopathy. Ann Surg 1979; 198:306–310. © 2009 Lippincott Williams & Wilkins, Inc. [journals.lww.com]
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]
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]
Malrotation is also a factor associated with worse prognosis [ 22 ]. [abdominalkey.com]
Etiology
Kaschula ] - Department of Pathology, Red Cross Childrens Hospital, University of Cape Town, Rondebosch, South Africa, South Africa خلاصه مقاله:  Degenerative leiomyopathy (DL) is a distinctive form of acquired degenerative visceral myopathy of uncertain etiology [scipers.com]
Visceral myopathy is rare pathological condition of gastrointestinal tract with uncertain clinical presentation and unknown etiology. It often presents with symptoms of chronic intestinal pseudoobstruction of colon. [hindawi.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]
The second major group of CIPO etiologies includes visceral myopathies ( Table III ). [scielo.isciii.es]
The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s). [em-consulte.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]
These investigators provided an overview of the current knowledge about epidemiology, clinical features, and pathophysiology of IMNM, as well as treatment strategies. [aetna.com]
Epidemiology of adult idiopathic inflammatory myopathies in a U.S. Managed care plan. Muscle Nerve 2012; 45 (5):676-83. [ Links ] 4. Needham M, Corbett A, Day T, Christiansen F, Fabian V, Mastaglia F. [scielo.cl]
Pathophysiology
However, the understanding of pathophysiological mechanisms and treatment strategies still requires further investigation. [aetna.com]
Motility Investigations These studies are performed in order to assess the GI motility and to define the underlying pathophysiologic process; in pediatrics they form the hallmark of diagnosis. [abdominalkey.com]
We then used the X-ray crystal structure of the chicken ACTG2 (PDB ID: P63270) to further predict the pathophysiological significance of the variant at a protein level. [nature.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]
The renal prognosis is generally good, provided that careful, active evaluation and management of the poorly dynamic bladder are performed to ensure adequate bladder emptying and to prevent urinary tract infection [ 187 ]. [abdominalkey.com]
Lack of signal in the sample prevented a mitochondrial DNA study from being performed. The patient was again admitted two months later because of pain after food ingestion, which was relieved by cisapride. [scielo.isciii.es]
In a pilot study, these researchers studied the causes of statin-induced muscle side effects in patients in an attempt to identify biological markers useful to prevent and counteract statin-induced muscle damage. [aetna.com]