Familial visceral myopathy
| Classification according to ICD-10 | |
|---|---|
| K56.0 | Paralytic ileus |
| ICD-10 online (WHO version 2019) | |
The Familial visceral myopathy is a very rare congenital disease with a (functional) regression of the smooth muscle ( myopathic degeneration ) of the nervous system of the intestinal wall and the urinary and genital system .
The main clinical feature is chronic intestinal pseudo-obstruction .
Synonyms are: Megaduodenum and / or Megazystis; Megacystic microcolon intestinal hypoperistalsis syndrome; MMIHS; Infantile visceral myopathy; Berdon Syndrome; Idiopathic intestinal pseudo-obstruction
The first description comes from 1977 by the US doctors Michael D. Schuffler and Charles E. Pope II.
distribution
The frequency is unknown, the inheritance is autosomal dominant .
Usually the duodenum or colon , rarely the esophagus and urinary bladder are affected.
root cause
The disease are mutations in ACTG2 - gene chromosome 2 locus P13.1 based.
to form
Depending on the peculiarities in the foreground, a distinction can be made:
- Idiopathic intestinal pseudo-obstruction
- Megacystis-Megaureter Syndrome
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
Clinical manifestations
Clinical criteria are:
- Manifestation in all age groups, mostly after the first decade of life
- intestinal pseudo-obstruction with distension of the abdomen and / or pain, colic
- Megaduodenum
- Megacystis
- Vomit
- Constipation or diarrhea
- Urinary tract infections , possibly urinary retention
- Weight loss
diagnosis
The diagnosis is based on the massive air filling of intestinal sections without signs of stenosis in the X-ray image (abdomen overview) as well as the results of the biopsy with atrophy and connective tissue transformation of the outer longitudinal muscle layers without signs of inflammation.
treatment
A therapy can possibly surgically done.
literature
- OL Holla, G. Bock, OL Busk, BL Isfoss: Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. In: Endoscopy . Volume 46, Number 6, June 2014, pp. 533-537, doi: 10.1055 / s-0034-1365142 , PMID 24777424 .
- T. Sipponen, R. Karikoski, H. Nuutinen, A. Markkola, I. Kaitila: Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle. In: Journal of clinical gastroenterology. Volume 43, Number 5, 2009 May-Jun, pp. 437-443, doi: 10.1097 / MCG.0b013e31817d3f84 , PMID 19098683 .
- Z. Mungan, F. Akyüz, Z. Bugra, O. Yönall, S. Oztürk, A. Acar, U. Cevikbas: Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities. In: The American Journal of Gastroenterology. Volume 98, Number 11, November 2003, pp. 2556-2560, doi: 10.1111 / j.1572-0241.2003.08707.x , PMID 14638363 .
Individual evidence
- ↑ a b c familial visceral myopathy. In: Orphanet (Rare Disease Database).
- ↑ a b c d Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ MD Schuffler, CE Pope: Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies. In: Gastroenterology. Volume 73, Number 2, August 1977, pp. 339-344, PMID 873135 .
- ↑ a b Visceral myopathy. In: Online Mendelian Inheritance in Man . (English)
- ↑ D. Papis, G. Marangoni: Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature. In: Acta chirurgica Belgica. Volume 116, number 5, October 2016, pp. 305-308, doi: 10.1080 / 00015458.2016.1147263 , PMID 27410460 (review).
