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Published on: May 18, 2010
Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic PIK3CA
Ximena Léon-Lara1, Sarina Ravens1,2, Sandra von Hardenberg3
1Institute of Immunology, Hannover Medical School, Hannover, Germany.
Insights
Pathogenic variants in the PIK3CA gene can cause rare pediatric conditions beyond overgrowth and cancer. Early diagnosis and precision medicine are crucial for managing severe complications like sepsis and hydrocephalus.
Area of Science:
- Genetics
- Pediatric Medicine
- Molecular Biology
Background:
- Pathogenic variants in the PIK3CA gene are linked to overgrowth syndromes and cancers.
- The p110-α catalytic subunit of phosphoinositide 3-kinase (PI3K) is encoded by PIK3CA.
Purpose of the Study:
- To report a case of a PIK3CA variant presenting with severe neonatal complications.
- To highlight the phenotypic heterogeneity and importance of early diagnosis and precision medicine.
Main Methods:
- Case report of a patient with PIK3CA variant c.1030G>A p.(Val344Met).
- Clinical presentation, histopathology, and management of complications were documented.
Main Results:
- The patient presented with viral sepsis, severe lymphopenia, and colonic perforations.
- Complications included ulcerative necrotizing colitis, lymphatic vascular malformation, hydrocephalus, and refractory ascites.
- Acetazolamide therapy resolved refractory ascites.
Conclusions:
- PIK3CA variants exhibit significant phenotypic heterogeneity in pediatric patients.
- Early molecular diagnosis and comprehensive immunologic evaluation are vital for individualized management.
- Precision medicine enables timely interventions for neurological and infectious complications.
Abstract:
Pathogenic variants in the PIK3CA gene, which encodes the p110-α catalytic subunit of the phosphoinositide 3-kinase (PI3K), are commonly associated with overgrowth syndromes and cancer. We report a patient with the point variant c.1030G>A p.(Val344Met) in the PIK3CA gene who presented shortly after birth with viral sepsis and and severe lymphopenia, followed by colonic perforations. Histopathology showed ulcerative necrotizing colitis with lymphatic vascular malformation. The patient subsequently developed hydrocephalus requiring a ventriculoperitoneal shunt, complicated by refractory ascites that resolved with acetazolamide therapy. Awareness of the potential disease spectrum through early molecular diagnosis, combined with a comprehensive immunologic evaluation, enabled individualized management via closer clinical monitoring and timely interventions to prevent and control neurological and infectious complications. This case highlights the phenotypic heterogeneity of PIK3CA pathogenic variants and the importance of early precision medicine in pediatric care.
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