ACTA2 leukovasculopathy: A rare pediatric white matter disorder
| Autor: | Cory M. Pfeifer, Mathew Stokes, Nishika Karbhari, Tonia Sabo, Daniel L. Veltkamp |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
lcsh:Medical physics. Medical radiology. Nuclear medicine
Pediatrics medicine.medical_specialty Ataxia lcsh:R895-920 Magnetic resonance angiography 030218 nuclear medicine & medical imaging White matter Leukovasculopathy 03 medical and health sciences 0302 clinical medicine Magnetic resonance imaging of the brain medicine Pediatric stroke Radiology Nuclear Medicine and imaging Medical history Stroke medicine.diagnostic_test business.industry Arteriopathy Leukodystrophy medicine.disease medicine.anatomical_structure Neuroradiology ACTA2 medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Radiology Case Reports Radiology Case Reports, Vol 15, Iss 8, Pp 1285-1288 (2020) |
| ISSN: | 1930-0433 |
| DOI: | 10.1016/j.radcr.2020.05.031 |
| Popis: | A 3-year-old girl presented with ataxia, dilated pupils, and behavioral change prompting work up for stroke. Her medical history included chronic mydriasis and patent ductus arteriosus requiring aortoplasty. Magnetic resonance imaging of the brain demonstrated confluent white matter signal abnormality concerning for leukodystrophy. Magnetic resonance angiography revealed a cerebral vessel arteriopathy with a “broomstick appearance” and other neuroradiographic findings consistent with ACTA2 mutation. Pathogenic Arg179His ACTA2 mutation was confirmed in the patient. ACTA2-related leukovasculopathy should be considered during workup of patients with abnormal white matter (eg, leukodystrophies), childhood stroke, and arteriopathies. Recognizing the combination of commonly associated physical and medical conditions associated with radiographic features of this neurogenetic condition will prompt appropriate care and screening for comorbidities associated with this disorder. |
| Databáze: | OpenAIRE |
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