MRI findings of hypomyelination in adenylosuccinate lyase deficiency

Samar Kayfan, Rana M. Yazdani, Samantha Castillo, Kevin Wong, Jeffrey H. Miller, Cory Pfeifer

Research output: Contribution to journalArticle

Abstract

Adenylosuccinate lyase deficiency is a rare genetic disorder with few reported cases in the United States. Magnetic resonance imaging findings in the brain include hypomyelination and low generalized parenchymal volume. Presented here is a case in a 3-month-old male who presented with hypotonia and seizures and was subsequently diagnosed with adenylosuccinate lyase deficiency. Given the rarity of this diagnosis, findings demonstrated in this case may prompt ordering physicians to broaden their approach to genetic testing in the setting of hypomyelination. Comparison is also made to more common hypomyelinating leukodystrophies.

Original languageEnglish (US)
Pages (from-to)255-259
Number of pages5
JournalRadiology Case Reports
Volume14
Issue number2
DOIs
StatePublished - Feb 1 2019

Keywords

  • Adenylosuccinate lyase deficiency
  • Hypomyelination

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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