Author/Authors :
Cerecedo Zapata، Cesar Misael نويسنده Department of Genetics, National Rehabilitation Institute,
Mexico City, Mexico , , Villafuerte De la Cruz، Rocio Adriana نويسنده Department of Genetics, National Rehabilitation Institute,
Mexico City, Mexico , , Cortes Rubio، Ana Maria نويسنده Department of Imaging, National Rehabilitation Institute,
Mexico City, Mexico , , Kramis Hollands، Mirelle نويسنده Department of Genetics, National Rehabilitation Institute,
Mexico City, Mexico , , Flores Estrada، Ivonne Natalia نويسنده Department of Genetics, National Rehabilitation Institute,
Mexico City, Mexico , , Luz Arenas Sordo، Maria نويسنده Department of Genetics, National Rehabilitation Institute,
Mexico City, Mexico ,
Abstract :
Introduction: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a neurologic disorder characterized by macrocephaly within the first year of life and the delayed onset of motor function deterioration with ataxia and spasticity. Magnetic resonance imaging of the brain is diagnostic and shows diffusely abnormal, mildly swollen cerebral white matter and subcortical cysts. MLC exhibits an autosomal recessive mode of inheritance. Two genes have been associated with MLC. The first and most important gene is MLC1, The other gene involved is HEPACAM.
Case Presentation: We studied a Mexican patient with a compatible diagnosis of MLC. The patient exhibited the c.353C > T, p.Thr118Met mutation, and both parents were carriers for the same mutation. To the best of our knowledge, no other cases of MLC have been reported in Mexican patient. This patient exhibited rapid deterioration of motor function.
Conclusions: A diagnosis of MLC, which can be facilitated by imaging studies, should be considered in all patients who exhibit global developmental delay
