Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy
| Autor: | Sarah H. Elsea, Mir Reza Bekheirnia, Jaehyung Lim, Gregory M. Rice, Mary Elizabeth M. Tessier, Erica Lay, Claudia Soler-Alfonso, Fernando Scaglia, Stephen F. Kralik, Brian J. Shayota |
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| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Pediatrics medicine.medical_specialty Ataxia Adolescent Mitochondrial disease Time Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Ethylmalonic encephalopathy medicine Humans Child Purpura Acrocyanosis business.industry Brain Brain Diseases Metabolic Inborn Infant Sulfur dioxygenase medicine.disease Magnetic Resonance Imaging Hypotonia Stroke 030104 developmental biology Child Preschool Pediatrics Perinatology and Child Health Female ETHE1 Neurology (clinical) medicine.symptom business Developmental regression 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 36:841-852 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/08830738211006507 |
| Popis: | Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects. |
| Databáze: | OpenAIRE |
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