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An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome
Sharon Anderson1,2, Milen Velinov1
1Medical Genetics, Rutgers Health, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
Insights
This case report details the treatment of a young infant with megalencephaly-capillary malformation/megalencephaly-capillary malformation polymicrogyria (MCAP) syndrome, a PIK3CA-related overgrowth spectrum disorder. The infant received alpelisib treatment, marking a significant early intervention for this rare condition.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS) encompasses rare genetic disorders characterized by asymmetric overgrowth.
- PROS affects multiple tissues including skin, adipose, connective tissues, brain, bone, and vasculature, with severity correlating to gestational age at onset.
- Megalencephaly-capillary malformation/megalencephaly-capillary malformation polymicrogyria (MCAP) syndrome is a recognized subtype of PROS.
Abstract:
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS) is a group of rare genetic asymmetric and atypical overgrowth disorder syndromes. Affecting skin, adipose and connective tissues, brain, bone, and vasculature and severity influenced by the gestational age at which the change occurred, PROS is phenotypically heterogeneous. This paper shares the case report of a former extremely preterm infant diagnosed with a subtype of PROS, megalencephaly-capillary malformation/megalencephaly-capillary malformation polymicrogyria (MCAP) syndrome, for whom treatment with alpelisib was initiated at 10 months of age (7 months corrected age). To our knowledge, this patient is the third and youngest to be included in this expanded access program for compassionate use for patients under 2 years of age.
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