[P2-177] A Shaky Boy With an Odd Laughter- MECP2 Mutation in a Male Child
[Objective] To highlight the overlapping syndromic features in a boy with a novel MECP2 mutation.
[Case report] A boy with severe global delay and poor sleep pattern presented at 15 months old with recurrent life threatening events characterized by cyanosis, unresponsiveness +/- vomiting, possibly from autonomic dysfunction. Soon after, similar symptoms were followed by generalized stiffness of all limbs and unusual mechanical laughter. Fever provoked seizures and atonic drops were subsequently noted and responded to valproate/ levetiracetam combination. Intermittent bruxism and high amplitude centripetal/ hand tremors became more prominent when older. Examination revealed a child with failure to thrive, fair skin, light coloured iris, generalized hypotonia and hyperreflexia. MRI Brain including fine cuts over the hypothalamus was normal and serial electroencephalograms revealed slowing and bilateral epileptiform activity. Whole exome sequencing revealed de novo hemizygous MECP2 mutation c.277 C>T:p.(Pro93Ser), a novel mutation predicted to be pathogenic. Although seizure free currently, he remains significantly delayed with absent speech and inability to sit independently.
[Discussion and conclusion] Our patient showed features described in both MECP2-related neonatal encephalopathy and male Rett syndrome variant. MECP2 testing should be considered in boys with early encephalopathy, seizures and movement disorders
[Case report] A boy with severe global delay and poor sleep pattern presented at 15 months old with recurrent life threatening events characterized by cyanosis, unresponsiveness +/- vomiting, possibly from autonomic dysfunction. Soon after, similar symptoms were followed by generalized stiffness of all limbs and unusual mechanical laughter. Fever provoked seizures and atonic drops were subsequently noted and responded to valproate/ levetiracetam combination. Intermittent bruxism and high amplitude centripetal/ hand tremors became more prominent when older. Examination revealed a child with failure to thrive, fair skin, light coloured iris, generalized hypotonia and hyperreflexia. MRI Brain including fine cuts over the hypothalamus was normal and serial electroencephalograms revealed slowing and bilateral epileptiform activity. Whole exome sequencing revealed de novo hemizygous MECP2 mutation c.277 C>T:p.(Pro93Ser), a novel mutation predicted to be pathogenic. Although seizure free currently, he remains significantly delayed with absent speech and inability to sit independently.
[Discussion and conclusion] Our patient showed features described in both MECP2-related neonatal encephalopathy and male Rett syndrome variant. MECP2 testing should be considered in boys with early encephalopathy, seizures and movement disorders