Résumé
Background: Lissencephaly is a rare developmental disorder characterized by absence of cerebral convolutions.Pachygyria (broad gyri) or agyria (no gyri) are terms used to describe appearance of cerebral surface. Togetherthese associated conditions are a part of congenital cortical malformations and may result due to arrest ofbrain development before third or fourth month of gestation. Patients suffering from these conditions presentswith significant developmental delays which further depends on the degree of malformation. Results: We reporta case of bilateral symmetrical extensive lissencephaly with pachygyria. The major MRI findings during evaluationof our case were smooth gyral pattern with thickened cortex, thinning of periventricular white matter andprominent VR (Ventricular) spaces.Conclusion: These defects can be idiopathic, associated with chromosomal abnormalities LIS 1 (chromosome 17)or can be to environmental factors (prenatal drugs or intrauterine perfusion failures). In our case Chromosome17 defect was suspected as the parieto-occipital regions were more involved.
Résumé
Objective To explore the clinical features of lissencephaly and the detection ofLISI gene.MethodsThe characteristic of clinical features, laboratory examination and gene detection in one case of lissencephaly was retrospectively analyzed. Meanwhile, the related literatures were reviewed.ResultsA 5-month-old female child diagnosed with epilepsy 20 days ago was hospitalized for convulsive seizure more than 30 times in 3 days. The manifestations were eyes staring, and turning upward, cyanosis of lips and face, froth at the mouth, extremities rigidity and loss of consciousness, and the symptoms can spontaneously remitted in 2-3 minutes. Laboratory examination showed that peripheral blood white cell count was 13.67×109/L, hemoglobin 108 g/L, red blood cell count 3.90×1012/L, lymphocyte 10.26×109/L; maocardial enzyme and hepatic and renal function were normal; blood ammonia was 23 μmol/L and lactic acid 2.11 mmol/L. Long-range video EEG showed highly arrhythmia, and frequent partial epilepsy, and sometimes secondary generalized epilepsy. Head MRI showed lissencephaly. The child was treated with oral administration of Keppra 27 mg/(kg·day), Topiramate 6.5 mg/(kg·day), currently no seizure. The detection ofLIS1 gene found that heterozygous mutation of c.232delG, which lead to protein shift mutation (p.E78NfsX25). No mutation was found in her parents.ConclusionsChild with lissencephaly may combine with epilepsy which may cause by mutation inLIS1 gene. And there was no information about point mutation of c.232delG inLIS1 gene being reported at home and abroad so far.