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.
Pediatric Neurology
|December 4, 2024
Summary
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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