Skip to main content
SpringerLink
Log in

Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia

  • Case Report
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

Methylmalonic acidemia (MMA) is a multifactorial autosomal recessive inborn error of organic acid metabolism, often presenting with neurologic findings. We report the imaging findings in a case of a child with classic neurological and laboratory findings for MMA. Imaging studies demonstrated abnormalities within the basal ganglia, particularly the globi pallidi (GP). Diffusion-weighted abnormalities seen in patients with MMA during an acute episode of metabolic acidosis and at follow-up are discussed. The authors are aware of only one prior report of serial examinations demonstrating resolution of restricted diffusion in the GP. The biochemical and pathophysiologic basis of the imaging findings of MMA are explained.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. Fig. 6. Fig. 7.

Similar content being viewed by others

References

  1. Coulombe JT, Shih VE, Levy HL (1981) Massachusetts metabolic disorders screening program. II. Methylmalonic aciduria. Pediatrics 67:26–31

    CAS  PubMed  Google Scholar 

  2. Mahoney MJ, Bick D (1987) Recent advances in the inherited methylmalonic acidemias. Acta Scand 76:689–696

    CAS  Google Scholar 

  3. Brismar J, Ozand PT (1994) CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR 15:1459–1473

    Google Scholar 

  4. Trinh BC, Melhem ER, Barker PB (2001) Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. AJNR 22:831–833

    CAS  Google Scholar 

  5. Takeuchi M, Harada M, Matsuzaki K, et al (2003) Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic academia. J Comput Assist Tomogr 27:547–551

    Article  PubMed  Google Scholar 

  6. Matsui SM, Mahoney MJ, Rosenberg LE (1983) The natural history of the inherited methylmalonic acidemias. N Engl J Med 308:857–861

    CAS  PubMed  Google Scholar 

  7. Andruela CF, De Biasi R, Carella A (1991) CT and MR studies of methylmalonic acidemia. AJNR 12:410–412

    Google Scholar 

  8. Kendall BE (1992) Disorders of lysosomes, peroxiomes and mitochondria. AJNR 13:621–653

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Diagnostic Radiology, University of Kentucky Chandler Medical Center, Room HX-311C, 800 Rose Street, Lexington, KY 40536, USA

    Steven J. Michel & Curtis A. Given II

  2. Department of Pediatric Neurology, University of Kentucky Chandler Medical Center, 800 Rose Street, Lexington, KY 40536, USA

    William C. Robertson Jr.

Authors
  1. Steven J. Michel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Curtis A. Given II
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. William C. Robertson Jr.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Steven J. Michel.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Michel, S.J., Given, C.A. & Robertson, W.C. Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. Pediatr Radiol 34, 580–582 (2004). https://doi.org/10.1007/s00247-004-1155-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-004-1155-2

Keywords

Search

Navigation