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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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