MRI findings of hypomyelination in adenylosuccinate lyase deficiency
| Autor: | Cory M. Pfeifer, Rana M. Yazdani, Samantha Castillo, Samar Kayfan, Kevin Wong, Jeffrey H. Miller |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
lcsh:Medical physics. Medical radiology. Nuclear medicine
Pathology medicine.medical_specialty medicine.diagnostic_test business.industry Adenylosuccinate lyase deficiency lcsh:R895-920 Genetic disorder Magnetic resonance imaging medicine.disease Hypotonia 030218 nuclear medicine & medical imaging 03 medical and health sciences 0302 clinical medicine Neuroradiology medicine Radiology Nuclear Medicine and imaging medicine.symptom business Hypomyelination 030217 neurology & neurosurgery Mri findings Genetic testing |
| Zdroj: | Radiology Case Reports, Vol 14, Iss 2, Pp 255-259 (2019) Radiology Case Reports |
| ISSN: | 1930-0433 |
| 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: | OpenAIRE |
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