A rare case of <i>SUCLA2</i>-related mitochondrial DNA depletion syndrome
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- Nozaki Fumihito
- Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga
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- Mori Mioko
- Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga
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- Kumada Tomohiro
- Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga
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- Hashiguchi Akihiro
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima
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- Takashima Hiroshi
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima
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- Murayama Kei
- Department of Metabolism, Chiba Children's Hospital, Chiba
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- Fujii Tatsuya
- Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga
Bibliographic Information
- Other Title
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- <i>SUCLA2</i>関連ミトコンドリアDNA枯渇症候群の1例
Abstract
<p> SUCLA2-related mitochondrial DNA depletion syndrome is known as Leigh syndrome with methylmalonic aciduria. The patient was a 12-year-old girl with non-consanguineous parents. The clinical features included psychomotor retardation, hypotonia, sensorineural hearing impairment, feeding difficulty, growth retardation, muscular atrophy, external ophthalmoplegia, blepharoptosis, gastroesophageal reflux, recurrent vomiting, sagittal craniosynostosis, peripheral axonal neuropathy, restrictive respiratory failure and kyphoscoliosis. Lactate levels in blood and cerebrospinal fluid were elevated at 8 months of age, and brain MRI showed cerebral atrophy. The MRI at 2 years of age revealed hyperintense areas in the bilateral basal ganglia on T2-weighted imaging. Therefore, the patient was diagnosed with Leigh syndrome. Although the serum acylcarnitine profile revealed slightly elevated propionylcarnitine, urine organic acid analysis was decided as normal. At 9 years of age, exome sequencing for the research of peripheral neuropathy revealed novel compound heterozygous variants, NM_003850.2 (SUCLA2) : c.1300del (p.Asp434Metfs＊8) ＋c.664-1G＞A. Her parents were heterozygous of each variant. A second analysis of urine organic acid showed mildly elevated methylmalonic acid. Muscle biopsy revealed that the activities of complexes Ⅰ and Ⅳ were at the lower limit of the normal range. Thus, the patient was diagnosed with SUCLA2-related mitochondrial DNA depletion syndrome. It is important to pay attention to elevated serum propionylcarnitine and mildly elevated urinary methylmalonic acid levels in patients with mitochondrial diseases.</p>
Journal
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- NO TO HATTATSU
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NO TO HATTATSU 52 (5), 318-322, 2020
The Japanese Society of Child Neurology
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Details 詳細情報について
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- CRID
- 1390285697608648960
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- NII Article ID
- 130007923264
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- ISSN
- 18847668
- 00290831
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- Text Lang
- ja
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- Data Source
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- JaLC
- CiNii Articles
- Crossref
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- Abstract License Flag
- Disallowed