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Fahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.
Zheng, Yan; Wu, Haohao; Zhang, Meng; Huang, Baogang; Yang, Junsu; Liu, Chuan; Wang, Hanmin; Du, Kang.
Afiliación
  • Zheng Y; Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
  • Wu H; Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
  • Zhang M; Teaching and Research Office of Internal Medicine, Qujing Medical College, Qujing, Yunnan, China.
  • Huang B; Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
  • Yang J; Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
  • Liu C; Department of Urology, Qujing First People's Hospital, Qujing, Yunnan, China.
  • Wang H; Department of Endocrinology and Metabolism, Qujing First People's Hospital, Qujing, Yunnan, China.
  • Du K; Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
Front Genet ; 15: 1393158, 2024.
Article en En | MEDLINE | ID: mdl-39188287
ABSTRACT
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr's syndrome with "near" sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD). The patient, a young boy, experienced loss of consciousness 2 days prior, which was followed by two limb and facial convulsions. He was later found in cardiac arrest during hospitalization, but regained consciousness gradually after receiving cardiopulmonary resuscitation and tracheal intubation. The patient exhibited short stature, intellectual disability, poor sports abilities, and academic performance since childhood, but had no family history. Emergency head computed tomography (CT) revealed high density calcification in bilateral caudate nucleus, lentiform nucleus, thalamus, and dentate nucleus with evidence of an acute process. The patient was transferred to the neurology department where he continued to recover consciousness, though he experienced dysarthria, left limb hemiplegia, and hemiparesthesia. Changes in head magnetic resonance imaging (MRI) findings were noted at admission, 1 month later, and 6 months later. LPD were observed in his video electroencephalogram. The CT urography indicated a narrow left ureteropelvic junction with left hydronephrosis, which was suggestive of ureteropelvic junction obstruction. Ultimately, a diagnosis of near-SUDEP was suspected in this patient, indicating a rare case of MELAS syndrome with near-SUDEP and LPD. The gene tests results revealed the presence of the mitochondrial DNA A3243G mutation, leading to the final diagnosis of MELAS syndrome. This case expands the clinical disease spectrum of the MELAS syndrome.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza