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《Journal of Applied Clinical Pediatrics》 2009-22
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Inborn Errors of Metabolism Combined with External Ophthalmoplegia in 9 Children

PENG Xiao-yin,WANG Li-wen,LI Er-zhen,ZHU Yan-li,CHEN Qian,LV Ling-yun,WANG Xin (Department of Neurology,Children′s Hospital Affiliated to Capital Institute of Pediatrics,Beijing 100020,China)  
Objective To explore the clinical features,laboratory tests and diagnosis in children with inborn erorrs of metabolism combined with external ophthalmoplegia. Methods The clinical data of 9 patients with inborn errors of metabolism combined with external ophthalmoplegia were retorspectively analyzed,including history taking,clinical symptom,medical examination,blood analysis,gaschromato graphy-mas spectrometry(GC/MS),muscle biopsy,chondriogene detection,imageology and electrophysiological examination. Results Only 1 case was admissed according to the history of seeing not pure provided by parents.Mental retardation was found in all patients,seizures in 5 patients,comas in 3 patients,abnormal walking posture in 2 patients,behavior disorder in 1 patient.The laboratory findings showed metabolic acidosis in 3 cases,elevated plasma lactic acid in 4 cases,elevated cardiac enzymes in 3 cases,high plasma levels of very long chain fatty acids in 2 patients,abnormal ceruloplasmin and urinary copper excretion in 1 case.MRI of 9 patients showed changes in different forms.Video electroencephalogrram was performed in 8 cases,2 cases of them showed normal results and 6 cases of them showed abnormal results.Ectrocardiographic findings were abnormal in 3 patients.Muscle biopsys were abnormal in 2 patients,mitochondrial gene of 2 cases were positive. Conclusions External ophthalmoplegia is one of the signs of inborn errors of metabolism.We should consider metabolic disorder when this sympotom appeared and carry out the screeing early to avoid missed diagnosis.
【CateGory Index】: R725.8
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【Citations】
Chinese Journal Full-text Database 5 Hits
1 JING Cheng-xue(Department of Pediatrics,the First Hospital Affiliated to Guangxi Medical University,Nanning 530021,China);Inherited Metabolic Disorders[J];Journal of Applied Clinical Pediatrics;2007-08
2 LIANG Cheng-wei,WANG Gui-fen(Department of Pediatric Neurology,Beijing Tiantan Hospital Affiliated to Capital Medical University,Beijing 100050,China);Diagnosis and Treatment of Hereditary Mitochondrial Disorders[J];Journal of Applied Clinical Pediatrics;2008-08
3 SUN Li1, LU Jia-hong2, LU Zhao-zeng1(1Department of Ophthalmology, 2Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China);Clinical manifestations,pathological changes and diagnosis of chronic progressive external ophthalmoplegia (twelve cases attached)[J];Fudan University Journal of Medical Sciences;2009-02
4 ZHANG Cang-Xia,CHEN Bao-Gang,HU Bing,ZHENG Yan-Xia,YANG Ji-Jun From the Department of Ophthalmology,Integrated Traditional Chinese and Western Medicine of Cangzhou Hospital,Cangzhou 061001,Hebei Province,China;The Central Hospital of Chengde,Chengde 067000,Hebei Province,China;The People's Hospital of Cangzhou,Cangzhou 061001,Hebei Province,China;Etiological analysis of 116 cases with acquired paralytic strabismus[J];Recent Advances in Ophthalmology;2008-05
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【Co-citations】
Chinese Journal Full-text Database 1 Hits
1 WU Ling-ling1,XU Yan-hua2,ZHAO Zheng-yan1(1.Department of Child Health Care;2.Department of Neonatal Screening,the Children′s Hospital Zhejiang University School of Medicine,Hangzhou 310003,Zhejiang Province,China);Development and Prospect of Neonatal Screening in China[J];Journal of Applied Clinical Pediatrics;2009-11
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