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Neuropediatrics 2010; 41(6): 256-260
DOI: 10.1055/s-0031-1273720
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Spontaneous Rapid Resolution of Acute Basal Ganglia Changes in an Untreated Infant with Propionic Acidemia: A Clue to Pathogenesis?

A. Broomfield1 , R. Gunny2 , P. Prabhakar3 , S. Grunewald1
  • 1Department of Metabolic Disease, Great Ormond Street Hospital with UCL Institute of Child Health, London, UK
  • 2Department of Neuroradiology, Great Ormond Street Hospital with UCL Institute of Child Health, London, UK
  • 3Department of Paediatric Neurology, Great Ormond Street Hospital with UCL Institute of Child Health, London, UK
Further Information

Publication History

received 31.3.2010

accepted 15.2.2011

Publication Date:
28 March 2011 (online)

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Abstract

Basal ganglia lesions are a well reported feature of acute decompensation in propionic acidemia; however, their underlying causation still needs to be fully elucidated. We report an 8-month-old infant whose lesions had almost completely resolved radiologically within 3 weeks of initial presentation without specific metabolic management and in light of this, we discuss the current thinking on their pathogenesis.

Key words

propionic acidemia - methyl citrate - cerebral oedema - basal ganglia - Krebs cycle

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Correspondence

Alexander Broomfield

Department of Metabolic

Disease

Ormond Street Hospital

Great Ormond Street

London WC1N 3JH

United Kingdom

Phone: +44/207/405 9200

Fax: +44/207/829 8643

Email: BroomA@gosh.nhs.uk