The clinical and genetic features of a case with antenatal form of leukoencephalopathy with vanishing white matter disease / 临床儿科杂志

ABSTRACT

Objective To explore the clinical features and gene mutations of antenatal form leukoencephalopathy with vanishing white matter disease (VWM).Methods The clinical data and genetic test results in a patient with antenatal form of VWM were retrospectively analyzed.Results A three months old patient was admitted to our hospital with intermittent convulsions commenced from the first month after birth.The baby had low birth weight (1900g) and asphyxia at birth.Developmental retardation and cataracts in both eyes were found on physical examination,and the patient couldn't stare,gaze-following,be amused and raise his head.In addition,he showed hypermyotonia of both lower extremities.Diffused and symmetrical abnormal signals same as that of the cerebrospinal fluid in the cerebral white matter were observed by brain CT and MRI scanning,and the lesions were gradually enlarged.Moreover,a missense mutation (c.1016G＞A) and a frameshift mutation (c.1809delC) in EIF2B5 gene inherited from his parent were detected by DNA sequencing.Conclusions VWM is one of the most prevalently inherited childhood white matter disorders,but the case of antenatal form is very rare.The diagnosis should be based on clinical manifestations and EIF2B genetic analysis.To our knowledge,the frameshift mutation c.1809delC has never been reported to date.