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 language | English (US) |
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Pages (from-to) | 255-259 |
Number of pages | 5 |
Journal | Radiology Case Reports |
Volume | 14 |
Issue number | 2 |
DOIs | |
State | Published - Feb 2019 |
Keywords
- Adenylosuccinate lyase deficiency
- Hypomyelination
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging