Atypical Rett syndrome

A rare neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 1

                       


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PMID (PMCID)
15875198
 FEMALE Infant
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
Giampietro PF, Schowalter DB, Merchant S, Campbell LR, Swink T, Roa BB.
Childs Nerv Syst. 2006;22(3):320-4.
We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic-clonic seizures, and a MECP2 mutation with a unique set of clinical findings.