Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2018
[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Zhang Kaihui, Li Hongying, Li Xiaoying, Liu Yi, Gai Zhongtao
Аннотация
OBJECTIVE: To analyze the clinical features and genetic basis of a female neonate with muscle weakness, abnormal brain magnetic resonance imaging and elevated blood lactate.
METHODS: The patient was subjected to clinical and laboratory examination. Next generation sequencing was carried out for the patient and her relatives.
RESULTS: The proband was diagnosed as small for gestational age, with clinical features including muscle weakness, abnormal brain magnetic resonance imaging, increased blood lactate, and acidosis. By genetic testing, a de novo PDHA1 mutation c.1133G to A (p.R378H) was identified, which was known to be pathogenic. The patient was diagnosed with pyruvate dehydrogenase complex deficiency disease (PDCDD), for which vitamin B1, coenzyme Q10, and L-carnitine were prescribed, and a ketogenic diet was recommended. Follow-up at 4-month-7-day found that her blood lactic acid was reduced to normal but her muscle tone was still low.
CONCLUSION: The proband was diagnosed as PDCDD caused by a PDHA1 missense mutation. NGS has provided a powerful tool for the diagnosis of such diseases.
METHODS: The patient was subjected to clinical and laboratory examination. Next generation sequencing was carried out for the patient and her relatives.
RESULTS: The proband was diagnosed as small for gestational age, with clinical features including muscle weakness, abnormal brain magnetic resonance imaging, increased blood lactate, and acidosis. By genetic testing, a de novo PDHA1 mutation c.1133G to A (p.R378H) was identified, which was known to be pathogenic. The patient was diagnosed with pyruvate dehydrogenase complex deficiency disease (PDCDD), for which vitamin B1, coenzyme Q10, and L-carnitine were prescribed, and a ketogenic diet was recommended. Follow-up at 4-month-7-day found that her blood lactic acid was reduced to normal but her muscle tone was still low.
CONCLUSION: The proband was diagnosed as PDCDD caused by a PDHA1 missense mutation. NGS has provided a powerful tool for the diagnosis of such diseases.