PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant
Beatriz Parreira Andrade1, Fátima Hierro2, Jorge Castro3
1Department of Pediatrics, Unidade Local de Saúde Médio Ave, Vila Nova de Famalicão, Portugal; Department of Neonatology, Unidade Local de Saúde de Vila Nova de Gaia, Vila Nova de Gaia, Portugal.
Background:
Megalencephaly-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.
Methods:
We 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.
Results:
Despite 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.
Conclusions:
This 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.
Insights
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder. Early interventions are vital, but progressive complications necessitate ongoing multidisciplinary care and neuroimaging surveillance for PIK3CA-related overgrowth spectrum disorders.
Area of Science:
- Neurology
- Genetics
- Developmental Biology
Background:
- Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare neurological disorder.
- MCAP is characterized by abnormal brain size, vascular malformations, and overgrowth.
- It stems from somatic mosaicism of the PIK3CA gene, part of the PIK3CA-related overgrowth spectrum.
Observation:
- A male infant diagnosed with MCAP prenatally through 12 months of age.
- Prenatal imaging revealed ventricular asymmetry, confirmed postnatally as megalencephaly.
- Genetic analysis identified a PIK3CA mutation, and the infant received early interventions like shunt placement.
Findings:
- Despite early interventions, the patient experienced progressive macrocrania, hydrocephalus, and neurodevelopmental delay.
- Multidisciplinary management and continuous neuroimaging were essential for managing complications.
- This case highlights diagnostic and management challenges in MCAP.
Implications:
- Emphasizes the critical need for multidisciplinary care in managing MCAP.
- Highlights the importance of continuous neuroimaging surveillance for progressive complications.
- Suggests emerging therapies may improve outcomes for PIK3CA-related overgrowth spectrum disorders.
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