Related Experiment Video

Updated: Aug 7, 2026

Functional Assessment of Intestinal Motility and Gut Wall Inflammation in Rodents: Analyses in a Standardized Model of Intestinal Manipulation
09:44

Functional Assessment of Intestinal Motility and Gut Wall Inflammation in Rodents: Analyses in a Standardized Model of Intestinal Manipulation

Published on: September 11, 2012

An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria

L Nimubona1, D Laloum, M O Rolland

  • 1Department of Neonatology, Caen University Hospital, France. lnimubonafr@yahoo.fr

Acta Paediatrica (Oslo, Norway : 1992)
|August 7, 2002
PubMed

Insights

Mevalonate kinase deficiency, a rare genetic disorder, can present with varied symptoms, including intestinal issues. This case highlights the importance of considering this condition in infants with unusual neonatal presentations and gastrointestinal problems.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mevalonate kinase deficiency (MKD) is an autosomal recessive disorder.
  • It is part of the spectrum of mevalonate-associated inflammatory diseases (MAIDs).
  • MKD affects isoprenoid biosynthesis, crucial for various cellular functions.

Observation:

  • A case of MKD diagnosed in an infant at 1 month of age.
  • Neonatal symptoms mimicked congenital infection.
  • An intestinal obstruction was observed at 8 months of age.

Findings:

  • This report details the first documented instance of bowel obstruction in mevalonate kinase deficiency.
  • Clinical and biological manifestations of MKD are highly variable, potentially delaying diagnosis.
  • The neonatal presentation can resemble congenital infections.

Implications:

  • Early recognition of MKD is crucial for timely intervention and management.
  • Awareness of gastrointestinal complications like bowel obstruction is important for clinicians.
  • This case expands the known clinical spectrum of mevalonate kinase deficiency.
Abstract

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