A case of neonatal Kleefstra syndrome with SLC2A1 gene mutation / 中华实用儿科临床杂志

The clinical data of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation in the Department of Newborn Infants, Children′s Hospital of Nanjing Medical University were retrospectively analyzed.The laboratory examination, genetic characteristics, diagnosis and treatment progress were analyzed.This is the first report of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation, presenting with an early-onset epilepsy.Gene analysis is the most reliable method to make a definitive diagnosis.

The clinical feature of glucose transporter 1 deficiency syndrome and literature review / 中国小儿急救医学

Objective To investigate the clinical features of glucose transporter 1 deficiency syndrome(GLUT1-DS) and summarize the characteristics of GLUT1-DS through reviewing related references.Methods The clinical data including manifestation,cerebrospinal fluid (CSF) glucose,electroencephalogram,MRI and gene mutation of a patient with GLUT1-DS was collected and the related literatures were reviewed.Results The patient was a 6 years old boy.The patient,whose seizures occurred at the age of 9 month-old and prolonged to 6 year-old,attacked before breakfast.Physical examination showed microcephaly with head circumference 47.5 cm.Laboratory tests showed that CSF glucose decreased (1.87 mmol/L) and CSF-serum ratio was 0.36.And meantime the MRI was normal and electroencephalogram showed general spike and slow wave complex paroxysm.Mutation of SLC2A1 gene,c.350_385del,was found in the patient.There were 219 cases with GLUT1-DS had been reported and the age of onset was 15.69 months.In 219 patients,159 cases (72％) suffered seizures,105 cases (47％) had motor abnormalities,61 cases (27％) suffered intellectual disability.The CSF glucose values were (1.92±0.31) mmol/L,CSF-serum ratio was 0.36±0.07.SLC2A1 gene mutations were detected in 183 patients(96％)in which missense mutation was the most mutation.Conclusion A wide range of phenotypes of GLUT1-DS include seizures,motor abnormalities,mental retardation.The diagnosis is confirmed when CSF glucose and CSF-serum ratio are continuously decreased which in the absence of meningitis.The SLC2A1 gene should be detected in suspicion of GLUTI-DS patients.Early diagnosis and treatment may improve the prognosis of those GLUTI-DS patients.