Abstract
BackgroundMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare neurological disorder characterized by abnormal brain size, vascular malformations, and body overgrowth. MCAP is caused by somatic mosaicism of PIK3CA, a crucial gene in regulation of cell growth and survival, and is one of the disorders in the PIK3CA-related overgrowth spectrum. MethodsWe present a unique clinical report of a male infant diagnosed with MCAP from prenatal stages to age 12 months. Prenatal imaging unveiled ventricular asymmetry, later confirmed postnatally as megalencephaly. Genetic analysis identified a PIK3CA mutation. The patient underwent early interventions, including ventriculoperitoneal shunt placement and posterior fossa decompression. ResultsDespite early interventions, the patient developed progressive macrocrania, hydrocephalus, and significant neurodevelopmental delay. Multidisciplinary management and continuous neuroimaging were crucial in addressing complications associated with the disorder. ConclusionsThis case underscores the critical need for multidisciplinary care and continual neuroimaging surveillance to effectively navigate the progressive complications associated with PIK3CA-related overgrowth spectrum. The diagnostic hurdles and management challenges intrinsic to the disorder's natural course are elucidated. Although current treatments manage symptoms, emerging therapies hold promise for improving patient outcomes.
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
