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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.
Am J Med Genet. 1991 Nov 01; 41(2):251-4.AJ

Abstract

We present 2 new patients with the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment. MMIHS, as reported in 43 cases, is usually lethal. Most children die during the first year of life, and only 3 children survived their first year. We report the 6th pair of sibs with the disease. Overall, 17 patients reported have had sibs with MMIHS or the parents were consanguineous; 4 times the parents were first, cousins, confirming that this is an autosomal recessive disorder. The present 2 children, whose parents also were first cousins, were of different sex. They had typical MMIHS with abdominal distension due to pronounced megacystis, hydronephrosis, microcolon, and microileum, involving the distal part of the ileum, malrotation of the gut, and intestinal hypoperistalsis. Neither surgery nor medical treatment was successful and the children died at the age of 19 days and 2 1/2 months, respectively. There is no cure for the disease. However, a new protkinetic drug, Cisapride might be worth trying in these cases. Prenatal ultrasound diagnosis of MMIHS might be possible.

Authors+Show Affiliations

Department of Clinical Genetics, University Hospital, University of Uppsala, Sweden.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

1785644

Citation

Annerén, G, et al. "Megacystis-microcolon-intestinal Hypoperistalsis Syndrome (MMIHS), an Autosomal Recessive Disorder: Clinical Reports and Review of the Literature." American Journal of Medical Genetics, vol. 41, no. 2, 1991, pp. 251-4.
Annerén G, Meurling S, Olsen L. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. Am J Med Genet. 1991;41(2):251-4.
Annerén, G., Meurling, S., & Olsen, L. (1991). Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. American Journal of Medical Genetics, 41(2), 251-4.
Annerén G, Meurling S, Olsen L. Megacystis-microcolon-intestinal Hypoperistalsis Syndrome (MMIHS), an Autosomal Recessive Disorder: Clinical Reports and Review of the Literature. Am J Med Genet. 1991 Nov 1;41(2):251-4. PubMed PMID: 1785644.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. AU - Annerén,G, AU - Meurling,S, AU - Olsen,L, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 251 EP - 4 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 2 N2 - We present 2 new patients with the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment. MMIHS, as reported in 43 cases, is usually lethal. Most children die during the first year of life, and only 3 children survived their first year. We report the 6th pair of sibs with the disease. Overall, 17 patients reported have had sibs with MMIHS or the parents were consanguineous; 4 times the parents were first, cousins, confirming that this is an autosomal recessive disorder. The present 2 children, whose parents also were first cousins, were of different sex. They had typical MMIHS with abdominal distension due to pronounced megacystis, hydronephrosis, microcolon, and microileum, involving the distal part of the ileum, malrotation of the gut, and intestinal hypoperistalsis. Neither surgery nor medical treatment was successful and the children died at the age of 19 days and 2 1/2 months, respectively. There is no cure for the disease. However, a new protkinetic drug, Cisapride might be worth trying in these cases. Prenatal ultrasound diagnosis of MMIHS might be possible. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1785644/Megacystis_microcolon_intestinal_hypoperistalsis_syndrome__MMIHS__an_autosomal_recessive_disorder:_clinical_reports_and_review_of_the_literature_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=41&issue=2&spage=251 DB - PRIME DP - Unbound Medicine ER -