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Article

PIK3CA-related overgrowth with an uncommon phenotype: case report.

Italian journal of pediatrics - 12 May 2022

Rotunno Roberta, Diociaiuti Andrea, Pisaneschi Elisa, Carnevale Claudia, Dentici Marialisa, El Hachem May

Abstract excerpt

BACKGROUND: Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined "PIK3CA-related overgrowth spectrum". CASE PRESENTATION: We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA...

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Identifiers

PMID: 35551640
DOI: 10.1186/s13052-022-01268-9
PMCID: PMC9097398

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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