Work

An Extremely Preterm Infant With PIK3CA- Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome

Year: 2025

Type: article

Abstract: )-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.

Source: Case Reports in Genetics

DOI: 10.1155/crig/6839348

Authors: Sharon Anderson, Milen Velinov

Institutions: Rutgers, The State University of New Jersey, Rutgers Health

Language: English

Topic: Vascular Malformations and Hemangiomas

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $790