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.
Keywords
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Article info
Publication history
Accepted:
March 7,
2005
Received in revised form:
November 13,
2004
Received:
August 2,
2004
Identification
Copyright
© 2005 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
