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Child's Nervous System

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01-03-2006 | Case Report

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome

Authors: P. F. Giampietro, D. B. Schowalter, S. Merchant, L. R. Campbell, T. Swink, B. B. Roa

Published in: Child's Nervous System | Issue 3/2006

Abstract

Case report

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. Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the patient’s degree of social relatedness with her family members.

Discussion

An early diagnosis of Rett syndrome allows families to maximize utilization of existing treatment modalities and seek appropriate genetic counseling and prenatal diagnoses. This case also provides further evidence for the treatment benefit of ketogenic diets for seizures in patients with Rett syndrome.

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Title: Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome
Authors: P. F. Giampietro
D. B. Schowalter
S. Merchant
L. R. Campbell
T. Swink
B. B. Roa
Publication date: 01-03-2006
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 3/2006
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-005-1155-z

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome

Abstract

Case report

Discussion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Case report

Discussion

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