1/5. ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients.The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern italy (Calabria), with a pedigree that was traced back five generations. The disease's pattern of transmission suggests an autosomal recessive trait.- - - - - - - - - - ranking = 1keywords = leukodystrophy (Clic here for more details about this article) |
2/5. A SURF1 gene mutation presenting as isolated leukodystrophy.Mitochondrial respiratory chain defects are increasingly recognized in patients with leukodystrophy. We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis. Although all previously reported mutations in the SURF1 gene have been found in patients with cytochrome oxidase (COX)-deficient Leigh syndrome, the phenotype associated with SURF1 protein deficiency should be extended to include leukodystrophy.- - - - - - - - - - ranking = 1.4000286360791keywords = leukodystrophy, deficiency (Clic here for more details about this article) |
3/5. Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. We report two full siblings with neuroimaging studies and clinical courses typical for megalencephalic leukoencephalopathy with subcortical cysts, in whom a pair of novel mutations in the MLC1 gene was identified. We review the current knowledge of this disorder in relation to the patients reported.- - - - - - - - - - ranking = 0.2keywords = leukodystrophy (Clic here for more details about this article) |
4/5. Vanishing white matter disease with periodic (paroxysmal) hemiparesis.Vanishing white matter disease is a chronically progressive leukodystrophy with periods of acute deterioration after head trauma and febrile illness. This report describes a child with genetically and clinically confirmed vanishing white matter disease exhibiting frequent episodes of right-sided hemiplegia, aphasia, and headache resolving fully within hours to days. This report describes a case of this condition presenting with episodes of hemiparesis with full discovery to baseline. Some possible mechanisms explaining this unusual presentation are provided.- - - - - - - - - - ranking = 0.2keywords = leukodystrophy (Clic here for more details about this article) |
5/5. Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.Leukoencephalopathy with vanishing white matter (VWM), also called childhood ataxia with central nervous system hypomyelination (CACH), is an autosomal recessive disease caused by mutations in any of the five genes encoding subunits of the eukaryotic translation initiation factor eIF2B. Neuropathological findings comprise a severe, cavitating orthochromatic leukodystrophy with only small amounts of myelin breakdown products, and predominantly involving the cerebral hemispheric white matter. Within the white matter abnormal oligodendroglial cells are present with abundant "foamy" cytoplasm. In some regions oligodendroglial cells are increased in numbers. We present three sisters, 18, 11 and 8 years old, with the early to late childhood phenotype. The first signs of the disease were gait disturbances at 4, 2 and 6 years of age, respectively. Neurological examination showed mild tremor of hands and head, truncal ataxia, dysarthria, and hypotonia, after several years followed by spasticity. The course of the disease was slowly progressive. Intellectual abilities are relatively spared. The MRI showed diffusely abnormal white matter of the cerebral hemispheres. The FLAIR images revealed rarefaction of the affected white matter with some stripe-like structures, suggesting the presence of remaining tissue strands. The abnormalities were most pronounced with the middle sister, who had the earliest onset of the disease. A homozygous point mutation in the EIF2B2 gene was found, 638A>G. Both the parents were found to be carriers of this mutation. This is the first description of a Polish family with VWM.- - - - - - - - - - ranking = 0.2keywords = leukodystrophy (Clic here for more details about this article) |