Clinical profile of a male with Rett syndrome.

Abstract:

:We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosis and has osteoporosis sleep problems and sludging in his gall bladder. Prior to diagnosis he underwent comprehensive neurological, metabolic and genetic investigations. After his older sister was diagnosed with atypical Rett syndrome; MECP2 mutation studies on him revealed a pathogenic mutation. His mother is a Rett carrier with a skewed inactivation of chromosome X. Clinical signs and symptoms required to meet the criteria for diagnosis of Rett syndrome have gradually evolved over time. This case demonstrates an unusual family history for Rett syndrome and alerts readers to the utility of screening males for Rett syndrome.

journal_name

Brain Dev

journal_title

Brain & development

authors

Budden SS,Dorsey HC,Steiner RD

doi

10.1016/j.braindev.2005.03.018

keywords:

subject

Has Abstract

pub_date

2005-11-01 00:00:00

pages

S69-S71

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(05)00132-4

journal_volume

27 Suppl 1

pub_type

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