Congenital diarrhea and enteropathies caused by a heterozygous mutation in the GUCY2C gene: a rare case report

TL;DR

A rare case of congenital diarrhea in an infant was linked to a mutation in the GUCY2C gene, with successful management through specialized care.

Contribution

Identification of a novel heterozygous GUCY2C mutation as a cause of congenital diarrhea in a Chinese infant.

Findings

A heterozygous mutation in GUCY2C (c.2356T > C, p.Y786H) was found to cause congenital diarrhea and enteropathies.

The patient showed normal growth and symptom resolution with supportive care and formula adjustments.

Genetic testing was crucial in diagnosing the rare condition and guiding treatment.

Abstract

This report presents a rare case of congenital diarrhea and enteropathies in a Chinese infant caused by a heterozygous mutation in the GUCY2C gene.

A male infant was born prematurely with a history of polyhydramnios and prenatal intestinal dilation. He developed persistent abdominal distension, secretory diarrhea, metabolic acidosis, severe electrolyte imbalances, and failure to thrive. Whole-exome sequencing identified a heterozygous mutation in GUCY2C (c.2356T > C, p.Y786H), classified as likely pathogenic. The patient also exhibited intestinal malrotation but did not require surgical intervention. Management included total parenteral nutrition, transition to an amino acid-based formula, and extensive electrolyte supplementation. At the 72-month follow-up, he exhibited normal growth and complete resolution of gastrointestinal symptoms.

A heterozygous mutation in the GUCY2C gene (c.2356T > C) was identified as the cause of this rare congenital diarrheal disorder. These findings emphasize the essential function of genetic testing in children with chronic, treatment-refractory diarrhea and highlight the potential for excellent long-term outcomes with suitable supportive care.

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