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Journal of International Medical Research
Article . 2023 . Peer-reviewed
License: CC BY NC
Data sources: Crossref
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MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report

Authors: Tae-Yong Kim; Su-Ji Lee; Kyung-Min Kim; Sung-Rae Cho;

MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report

Abstract

Mutations in the X-linked methyl-CpG-binding protein 2 ( MECP2) gene were first described as a cause of Rett syndrome. MECP2 duplication can cause intellectual disability, developmental delay, severe feeding difficulties, and recurrent infections. Here, we report a Korean family with MECP2 duplication syndrome, which was previously misdiagnosed as cerebral palsy. A man in his early 30 s visited our clinic with intellectual disability, speech impairment, epilepsy, and progressive spasticity. He had been previously misdiagnosed with cerebral palsy, and had received orthopedic surgeries such as musculotendinous lengthening and derotational osteotomy. After the surgeries, he received comprehensive rehabilitation. Upon carefully checking his family history, we noted that his younger brother had similar symptoms. Next-generation sequencing revealed whole exon duplication in MECP2 in both the patient and his brother; their mother also had this genetic mutation but was asymptomatic. Early diagnosis is essential for improving the success of MECP2 duplication syndrome treatment. Individuals with MECP2 duplication syndrome should be referred to specialists to manage multidisciplinary symptoms and to regularly check for complications that are common in this syndrome.

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Keywords

Male, Adult, cerebral palsy, MECP2 duplication syndrome, X-Linked* / diagnosis, Methyl-CpG-Binding Protein 2, Cerebral Palsy, Cerebral Palsy* / genetics, Methyl-CpG-Binding Protein 2 / genetics, Case Reports, neurodevelopmental disorder, 576, Cerebral Palsy* / diagnosis, 618, Rett syndrome, Mental Retardation, X-Linked* / genetics, Intellectual Disability, X-Linked Intellectual Disability, differential diagnosis, Intellectual Disability* / genetics, Humans, next-generation sequencing, Diagnostic Errors

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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