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.