Maternally inherited Leigh syndrome: an unusual cause of infantile apnea

被引：7

作者：

Chau, Christy Shuk-kuen ^{[2
]}

Kwok, Ka-li ^{[1
]}

Ng, Daniel K. d ^{[1
]}

Lam, Ching-Wan ^{[3
]}

Tong, Sui-Fan ^{[3
]}

Chan, Yan-Wo ^{[4
]}

Siu, Wai-Kwan ^{[4
]}

Yuen, Yuet-Ping ^{[4
]}

机构：

[1] Kwong Wah Hosp, Dept Paediat, Kowloon, Hong Kong, Peoples R China

[2] Univ Hong Kong, Dept Paediat & Adolescent Med, Queen Mary Hosp, Hong Kong, Hong Kong, Peoples R China

[3] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China

[4] Princess Margaret Hosp, Dept Pathol, Hong Kong, Hong Kong, Peoples R China

来源：

SLEEP AND BREATHING | 2010年 / 14卷 / 02期

关键词：

Leigh disease; Mitochondrial diseases; Mutation; Apnea; Encephalopathy; MITOCHONDRIAL-DNA MUTATION; T8993G; NARP; DISEASE; MTDNA;

D O I：

10.1007/s11325-009-0288-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Leigh Syndrome is an uncommon cause of infantile apnea. We report a 5-month-old girl with sudden respiratory arrest followed by episodic hyper- and hypo-ventilation, encephalopathy, and persistent lactic acidosis. Computed tomography of the brain revealed symmetric low densities over the basal ganglia, internal capsule, thalami, and midbrain. Cardiac echocardiogram was suggestive of hypertrophic cardiomyopathy. Diagnosis of Leigh syndrome due to T8993G mutation was confirmed with polymerase chain reaction and direct DNA sequencing of mitochondrial genome. To our knowledge, this is the first report of proven maternally inherited Leigh syndrome in Hong Kong.

引用

页码：161 / 165

页数：5

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