MECP2-related severe neonatal encephalopathy

Definition:

MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often leads to death at an early age. Mutations in the MECP2 gene cause this disease, and females with these same mutations typically have a disorder called Rett syndrome. Most boys with this disorder have been identified because they have female siblings with Rett syndrome.

References:

[1]. L Villard, et al. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology. 2000 Oct 24;55(8):1188-93. [Content Brief]

[2]. Michael L Gonzales, et al. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127-34. [Content Brief]

[3]. N Geerdink, et al. MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics. 2002 Feb;33(1):33-6. [Content Brief]

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