title: Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration.
abstract: Megalencephalic leucoencephalopathy with subcortical cysts (MLC) is a diffuse subcortical leucoencephalopathy with cystic white matter degeneration. Patients with MLC present with macrocephaly at the first year of life, and neurological abnormalities such as motor deterioration, ataxia, spasticity and cognitive defects progress later. MLC is caused by mutations in the gene MLC1, which encodes a novel protein, MLC1. There is no specific treatment for MLC. Management is based on physiotherapy procedures, psychomotor stimulation and treatment of seizures. We report a case of a 1-year-old boy with a normal birth and developmental history, presenting with progressive increase of head size; on further evaluation with CT and MRI of the brain, the child was diagnosed as MLC.
authors.affiliation: Department of Radiodiagnosis, CMIIL-SCB Medical MRI Centre, Cuttack, Odisha, India.
authors.forename: Prafulla Kumar
authors.initials: PK
authors.lastname: Dash
authors.affiliation: Department of Radiodiagnosis, SCB Medical College, Cuttack, Odisha, India.
authors.forename: Dinesh Harvey
authors.initials: DH
authors.lastname: Raj
authors.affiliation: Department of Radiodiagnosis, SCB Medical College, Cuttack, Odisha, India.
authors.forename: Hrushikesh
authors.initials: H
authors.lastname: Sahu
mesh_terms: D001259:Ataxia / Q000209:etiology; D003560:Cysts / Q000175:diagnosis* / Q000235:genetics*; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D058627:Megalencephaly / Q000209:etiology; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D026741:Physical Therapy Modalities; D012640:Seizures / Q000517:prevention & control*; D014057:Tomography, X-Ray Computed; D066127:White Matter / Q000000981:diagnostic imaging*
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins