| Autor: |
Samar Kayfan, BA, Rana M. Yazdani, BS, Samantha Castillo, MD, Kevin Wong, DO, Jeffrey H. Miller, MD, Cory M. Pfeifer, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Radiology Case Reports, Vol 14, Iss 2, Pp 255-259 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1930-0433 |
| DOI: |
10.1016/j.radcr.2018.11.001 |
| Popis: |
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. Keywords: Adenylosuccinate lyase deficiency, Hypomyelination |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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