Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts
محل انتشار: مجله پزشکی کودکان، دوره: 3، شماره: 2
سال انتشار: 1394
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 35
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شناسه ملی سند علمی:
JR_JPRE-3-2_011
تاریخ نمایه سازی: 8 آذر 1402
چکیده مقاله:
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 MLC۱, The other gene involved is HEPACAM.
Case Presentation: We studied a Mexican patient with a compatible diagnosis of MLC. The patient exhibited the c.۳۵۳C > T, p.Thr۱۱۸Met 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.
کلیدواژه ها:
Global Developmental Delay ، Megalencephalic Leukoencephalopathy ، Leukoencephalopathy ، Subcortical Cysts ، Van der Knaap Disease
نویسندگان
Cesar Misael Cerecedo Zapata
Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico
Rocio Adriana Villafuerte De la Cruz
Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico
Ana Maria Cortes Rubio
Department of Imaging, National Rehabilitation Institute, Mexico City, Mexico
Mirelle Kramis Hollands
Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico
Ivonne Natalia Flores Estrada
Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico
Maria Luz Arenas Sordo
Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico