[MIM 300 148]

Acronym for Mental retardation, Epileptic seizures, Hypogonadism and hypogenitalism, Microcephaly and Obesity.

Very rare. X-linked form of intellectual deficit. X-linked transmission of a mutation on Xp21.1-22.13 causing a mitochondrial dysfunction.

Associated elements:

-        severe intellectual disabilities

-        epilepsy

-        microcephaly

-        hypogenitalism

-        obesity.

Patients usually die before the age of 2 years.

Anesthetic implications: 

difficult venous access; management of a mitochondrial cytopathy (see this term)

References : 

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Updated: July 2017