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Case Reports
. 2024;84(2):347-350.

[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association]

[Article in Spanish]
Santiago I Rossi  1 , Silvia Baleani  2 , Ximena Prado  2 , Carolina Pascual  2 , Cecilia Tennina  3 , Pablo Malagrino  3 , Ana Vieites  4 , Alejandro Parra  5 , Mario Cazalla  5 , Jair Tenorio Castano  5 , Pablo Lapunzina  5
Affiliations
  • PMID: 38683522
Free article
Case Reports

[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association]

[Article in Spanish]
Santiago I Rossi et al. Medicina (B Aires). 2024.
Free article

Abstract
in English, Spanish

Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.

La enfermedad inflamatoria intestinal de inicio muy temprano (VEOIBD) es una entidad rara en pediatría. Es conocida su asociación con inmunodeficiencias primarias de origen monogénico. Presentamos el caso de una paciente con diagnóstico de VEOIBD a quien se le realizó una secuenciación masiva del exoma. El resultado del estudio permitió identificar una variante patogénica en el proto oncogen RET, asociada con enfermedad neoplasia endocrina múltiple tipo 2A. No hay reportes de asociación de variantes en el proto oncogen RET con VEOIBD. No se puede adjudicar la presencia de estas dos entidades clínicas a una única causa genética.

Keywords: RET proto-oncogene; multiple endocrine neoplasia 2A; primary immunodeficiency; very early onset inflammatory bowel disease.

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