摘要
目的 研究Leigh综合征 (Leighsyndrome ,LS)的临床、神经影像学、神经病理特点及诊断方法。方法 对 8例Leigh综合征患儿的病例资料进行综合分析。结果 8例患儿中 5例婴儿期起病者主要表现为进行性智力运动发育落后或倒退、肌张力低下、间歇性呼吸节律异常、惊厥、眼外肌麻痹、喂养及吞咽困难、视听障碍及眼震 ;3例幼儿期起病者主要表现为行走障碍、肌无力、眼外肌麻痹、颅神经受累、共济失调、肌张力增高、锥体束征阳性、惊厥。 7例行血乳酸检查者均增高。行MRI检查者共 6例 ,共同表现有双侧基底节、脑干对称性长T1、长T2 病变 ,尤以壳核最常受累且最重 ,其中 2例伴基底节萎缩 ,3例有脑干受累。 2例行肌活检者未见破碎样红纤维及其他特异性改变。 4例脑组织病理检查均示多发性对称性局灶变性坏死 ,神经元丢失 ,伴毛细血管增生、扩张。 4例均有脑干核团(以黑质、前庭神经核、外展神经核及舌下神经核最常见且最严重 )受累 ,2例有显著基底节受累 (其中壳核最严重 ) ,另有 3例小脑受累 ,2例有大脑皮质受累 ,2例有大脑白质受累。 3例行线粒体DNA(mtDNA)检测 ,其中 1例证实为mtDNAnt8993T→G突变 ,而且该患儿母亲白细胞中也存在相同突变 ,但现身体健康 ,患儿父亲无此突变 ;其余 2例mtDNA
Objective Leigh syndrome (LS) is also called Leigh disease or subacute necrotizing encephalomyelopathy. LS is a progressive neurodegenerative disorder of infant or children, characterized by the psychomotor retardation, ataxia, hypotonia, involuntary movements, optic atrophy, brain stem dysfunction, lactic acidosis, and symmetric basal ganglia and brain stem lesions. The diagnosis of LS is based on characteristic neuropathologic findings of bilateral and symmetric necrotizing lesions in the basal ganglion and brain stem. Because many pediatricians are quite unfamiliar to LS, the authors summarize the characteristics of patients with LS, and detect mitochondrial DNA mutations in maternal inherited LS patients in the mainland of China.Methods The clinical features of 8 patients with LS were summarized and analyzed, including symptoms and signs, blood lactic acid and pyruvate level, blood gas analysis, CK level, cranial MRI, muscle biopsy and brain autopsy results, mitochondrial DNA (mtDNA) mutation analyses, and so on. Two clinical subtypes of LS, infantile form and juvenile form, were compared also in this work. Results Five of 8 cases with the early onset before 1 year of age mainly presented progressive psychomotor retardation, hypotonia, intermittent abnormalities of the respiratory rhythm, convulsions, ophthalmoplegia, feeding and swallowing difficulties, auditory and visual dysfunction, and nystagmus. Three of 8 cases with onset after 1 year of age mainly presented walking disturbance, muscle weakness, ophthalmoplegia, cranial nerve signs, ataxia, hypertonia, positive pyramidal sign and convulsion. The blood lactic acid levels elevated in 7 cases. The MRI performed in 6 cases showed symmetric and bilateral basal ganglion and brain stem lesions, and characterized by high intensity on T 2 weighted images and low intensity on T 1 weighted images. The putamen was most often involved, and also most severe. The volume loss of putamen and caudate nuclei were also found in 2 cases. Brain stem were involved
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2001年第6期330-334,共5页
Chinese Journal of Pediatrics
