Introduction. Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease with autosomal recessive inheritance. Materials and methods. Two br others born from a consanguineous marriage, presenting wit...Introduction. Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease with autosomal recessive inheritance. Materials and methods. Two br others born from a consanguineous marriage, presenting with the phenotype of the disease, their parents, brothers and sisters were examined. Magnetic resonance imaging of the brain was performed for the two patients. Sequence analysis of ML C1 (GenBank mRNA accession no. NM 015166) was performed for the patients using i ntronic primers. PCR restriction fragment length polymorphism analysis was done in patients, their parents and in 100 Lebanese controls in order to exclude gene polymorphism.Results. The clinical features were characteristic of the disease, consisting of an early-onset macrocephaly followed by slowly progressive ataxia , pyramidal tract involvement and epileptic seizures. In one patient, the clinic al manifestations were aggravated by a trivial brain trauma. In his brother and in one female cousin, a status epilepticus was precipitated by a febrile syndrom e. The diffuse cerebral white matter lesions and the subcortical temporo-polar and frontal cysts, best seen on MRI,allowed making the diagnosis.Molecular genet ics revealed a new mutation involving the MLC1 gene (263G→T, exon 3). As a cons equence, it affects the second transmembrane domain predict (G88V) of the MLC pr otein (protein sequence NP 055981). The mutation was confirmed by PCR restrictio n fragment length polymorphism analysis. Conclusion. Megalencephalic leucoenceph alopathy with subcortical cysts may be individualized on clinical and radiologic al basis and confirmed by molecular genetics. In this Lebanese family, a new mut ation of the MLC1 gene is reported.展开更多
文摘Introduction. Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease with autosomal recessive inheritance. Materials and methods. Two br others born from a consanguineous marriage, presenting with the phenotype of the disease, their parents, brothers and sisters were examined. Magnetic resonance imaging of the brain was performed for the two patients. Sequence analysis of ML C1 (GenBank mRNA accession no. NM 015166) was performed for the patients using i ntronic primers. PCR restriction fragment length polymorphism analysis was done in patients, their parents and in 100 Lebanese controls in order to exclude gene polymorphism.Results. The clinical features were characteristic of the disease, consisting of an early-onset macrocephaly followed by slowly progressive ataxia , pyramidal tract involvement and epileptic seizures. In one patient, the clinic al manifestations were aggravated by a trivial brain trauma. In his brother and in one female cousin, a status epilepticus was precipitated by a febrile syndrom e. The diffuse cerebral white matter lesions and the subcortical temporo-polar and frontal cysts, best seen on MRI,allowed making the diagnosis.Molecular genet ics revealed a new mutation involving the MLC1 gene (263G→T, exon 3). As a cons equence, it affects the second transmembrane domain predict (G88V) of the MLC pr otein (protein sequence NP 055981). The mutation was confirmed by PCR restrictio n fragment length polymorphism analysis. Conclusion. Megalencephalic leucoenceph alopathy with subcortical cysts may be individualized on clinical and radiologic al basis and confirmed by molecular genetics. In this Lebanese family, a new mut ation of the MLC1 gene is reported.
