Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease
In this study, stroke-like episodes in genetically defined mitochondrial disorders were most frequently observed in MELAS and POLG mutations, and rarely in CoQ10 deficiency, Leigh syndrome cases. Cranial MRI findings are often frontotemporal in location and inconsistent with vascular distribution, and focal epileptiform activity on EEG are diagnostically significant. In MELAS, clinical improvement was observed in patients when L-arginine was initiated in the acute period. The findings emphasise that SLE should be evaluated in the differential diagnosis of sudden onset neurological symptoms in mitochondrial diseases.
Authors
- Gülden Gökçay (ORCID: https://orcid.org/0000-0003-3726-5726)
- Tanyel Zübarioğlu (ORCID: https://orcid.org/0000-0002-7159-4008)
- Hasan Önal (ORCID: https://orcid.org/0000-0001-9676-7086)
- Şahin Erdöl (ORCID: https://orcid.org/0000-0003-4402-9609)
- Bülent Kara (ORCID: https://orcid.org/0000-0003-3780-6596)
- Zümrüt Arslan Gülten (ORCID: https://orcid.org/0000-0003-4970-1759)
- Burcu Öztürk Hişmi (ORCID: https://orcid.org/0000-0001-7146-0248)
- Alparslan Ersoy (ORCID: https://orcid.org/0000-0002-0710-0923)
- Gülhan Karakaya Molla (ORCID: https://orcid.org/0000-0002-8061-5747)
- Sevil Dorum (ORCID: https://orcid.org/0000-0001-6947-2573)
- Meryem Karaca (ORCID: https://orcid.org/0000-0002-0662-7344)
- Nafiye Emel Çakar (ORCID: https://orcid.org/0000-0003-2036-4082)
- Emine Genç (ORCID: https://orcid.org/0000-0001-7548-9187)
- Aliye Gülbahçe (ORCID: https://orcid.org/0000-0003-0894-4447)
- Özlem Ünal Uzun (ORCID: https://orcid.org/0000-0001-7937-7721)
- Tarık Yıldırım (ORCID: https://orcid.org/0000-0002-7185-7613)
- Belkıs Ak
- Hanım Babazade Agakisili
Institutions
- Bursa Uludağ Üni̇versi̇tesi̇ (TR)
- Eskişehir City Hospital (TR)
- Istanbul University-Cerrahpaşa (TR)
- National Institute of Child Health (PK)
- Şişli Etfal Eğitim ve Araştırma Hastanesi (TR)
- Children's Specialized Hospital (US)
- Kocaeli Üniversitesi (TR)
- Istanbul University (TR)
- Marmara University (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-12-08
- DOI
- https://doi.org/10.3389/fneur.2025.1657852
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00