Related Experiment Video

Updated: Jul 5, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia

I Harting1, A Seitz, S Geb

  • 1Departments of Neuroradiology and General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany. inga.harting@med.uni-heidelberg.de

Journal of Inherited Metabolic Disease
|May 13, 2008
PubMed

Insights

Methylmalonic acidaemia can cause brain abnormalities in children, including delayed maturation and unexpected brainstem/cerebellar changes. These findings suggest a chronic neurotoxic effect on the developing brain.

Area of Science:

  • Neurology
  • Pediatrics
  • Radiology

Background:

  • Methylmalonic acidaemia is a rare metabolic disorder.
  • Brain imaging findings in pediatric cases are not fully characterized.

Purpose of the Study:

  • To report and analyze brain MRI abnormalities in children with methylmalonic acidaemia.
  • To discuss observed patterns and potential underlying mechanisms.

Main Methods:

  • Retrospective review of 5 brain MRI examinations.
  • Analysis of imaging findings in 4 children aged 20 days to 31 months.

Main Results:

  • All children showed delayed brain maturation (myelination delay, immature gyral pattern).
  • Bilateral basal ganglia (pallidum) lesions were seen in 3/4 children.
  • White matter disorder signs were present in older children; brainstem and cerebellar changes were universal.

Conclusions:

  • Delayed myelination, white matter abnormalities, and brainstem/cerebellar involvement are common in methylmalonic acidaemia.
  • These findings may result from chronic neurotoxicity affecting brain development and aging.

More Related Videos

Standardized Data Acquisition for Neuromelanin-Sensitive Magnetic Resonance Imaging of the Substantia Nigra05:14

Standardized Data Acquisition for Neuromelanin-Sensitive Magnetic Resonance Imaging of the Substantia Nigra

Published on: September 8, 2021

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease09:06

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

Related Concept Videos

Magnetic Resonance Imaging01:24

Magnetic Resonance Imaging

Magnetic resonance imaging (MRI) is a noninvasive medical imaging technique based on a phenomenon of nuclear physics discovered in the 1930s, in which matter exposed to magnetic fields and radio waves was found to emit radio signals. In 1970, a physician and researcher named Raymond Damadian noticed that malignant (cancerous) tissue gave off different signals than normal body tissue. He applied for a patent for the first MRI scanning device in clinical use by the early 1980s. The early MRI...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...