An atypical case of canavan disease with stroke-like presentation

Katherine E. Delaney, Stephen F. Kralik, Bryan E. Hainline, Meredith R. Golomb

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Background Canavan disease is an autosomal recessive leukodystrophy caused by a deficiency of aspartoacylase. The disease has a severe course, with death occurring in the first few years of life. Atypical patients with mild courses have been reported, but acute presentations similar to stroke have not been well described. Patient Description We present a boy who presented at 4 months of age with seizures after an episode of cardiopulmonary arrest is discussed. Results He was initially thought to have an ischemic watershed stroke based on his initial clinical presentation and magnetic resonance imaging. However, biochemical and follow-up radiologic evaluation were consistent with mild Canavan disease. DNA sequencing of the ASPA gene indicated one known mutation (A305E) and a novel mutation, L30V. Follow-up magnetic resonance imaging did not reveal the atrophy which would have been expected with watershed ischemia. Magnetic resonance spectroscopy demonstrated elevated N-acetyl aspartate to creatinine and N-acetyl aspartate to choline ratios. At 4 years of age, he was normocephalic, with mild clumsiness, speech delay, and seizures. Conclusions This child's unusual acute presentation, along with his prolonged mild course, raises questions about the relationship between biochemical signs of abnormal aspartoacylase function and clinical findings. This patient highlights the need for long-term clinical follow-up of children with mild Canavan disease to clarify the significance of these biochemical abnormalities.

Original languageEnglish (US)
Pages (from-to)218-221
Number of pages4
JournalPediatric Neurology
Volume52
Issue number2
DOIs
StatePublished - Feb 1 2015

Keywords

  • acute
  • atypical
  • Canavan
  • magnetic resonance spectroscopy
  • normocephalic
  • stroke
  • watershed

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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