Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report.

Autor: Kashiki T; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan. Electronic address: kidojun@kuh.kumamoto-u.ac.jp., Momosaki K; Kumamoto-Ashikita Medical Center for Disabled Children, Kumamoto, Japan., Kusunoki S; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Ozasa S; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Nomura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Imai-Okazaki A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University School of Medicine Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan., Tsuruoka T; Department of Neonatology, Chiba Children's Hospital, Chiba, Japan., Murayama K; Department of Metabolism, Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan., Koga Y; Department of Pediatrics and Child Health, Kurume University Graduate School of Medicine, Kurume University, Kurume, Japan., Nakamura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Jazyk: angličtina
Zdroj: Brain & development [Brain Dev] 2022 Jan; Vol. 44 (1), pp. 56-62. Date of Electronic Publication: 2021 Aug 25.
DOI: 10.1016/j.braindev.2021.08.005
Abstrakt: Introduction: Autosomal dominant mitochondrial DNA depletion syndrome (MTDPS-12A) is characterized by severe hypotonia from birth due to a mutation in the adenine nucleotide translocator 1 (ANT1).
Case Report: A 4-year-old female patient diagnosed with neonatal-onset mitochondrial disease, who had good cognitive function while receiving antiepileptic treatment, presented with sudden-onset status epilepticus with facial and limb myoclonus persisting for more than 30 min. Subsequently, she developed epileptic encephalopathy. Brain MRI showed progressive ventricular enlargement and marked white matter atrophy. She was unable to perform verbal communication or make eye contact and fingertip movements. She lacked any signs of cardiomyopathy. Sanger sequencing demonstrated a heterozygous de novo mutation of c.239G>A (p.Arg80His) in SLC25A4. Her right quadriceps muscle tissue showed lowered complexes I, III, and IV activities and mitochondria DNA depletion (mitochondria/nuclear DNA: 14.6 ± 2.2%) through the quantitative polymerase chain reaction. She was definitively diagnosed with MTDPS-12A.
Conclusion: Status epilepticus causes encephalopathy in patients with MTDPS-12A. Reducing the energy requirement on the cardiac muscle and brain may be a treatment strategy for patients with MTDPS-12A. Therefore, seizure management and preventive treatment of status epilepticus are considered to be important for maintaining neurodevelopmental outcomes.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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