Bhowal Anushka, Cardona Natalia, Chua Caroline, Viswanathan Sreekanth, Denham Jolanda, Miles Lili, Franciosi James P
Pediatrics, Nemours Children's Health, Orlando, USA.
Neonatology, Nemours Children's Health, Orlando, USA.
Cureus. 2024 Nov 12;16(11):e73529. doi: 10.7759/cureus.73529. eCollection 2024 Nov.
Congenital diarrhea and enteropathies (CoDEs) condition is a rare cause of chronic diarrhea in infants that can be challenging to diagnose. This article discusses key signs to recognize in considering a CoDEs diagnosis and provides an overview of the diagnostic process. We report a late preterm twin infant with intractable watery diarrhea starting shortly after birth. The infant was born from a twin pregnancy to non-consanguineous parents with an unremarkable family history. His twin brother had no complications after birth and continued to thrive. The patient initially presented with bloody stools, leading to a suspected diagnosis of necrotizing enterocolitis or cow's milk protein-induced allergic colitis. However, the emergence of profuse and watery diarrhea, failure to thrive, and hypernatremic dehydration shifted the suspicion toward malabsorptive diarrhea. An extensive workup was significant for hypernatremic metabolic acidosis and positive stool-reducing substances. Several trials of protein-hydrolysate and elemental amino acid-based formulas failed to improve symptoms. However, stool consistency improved with a trial of a carbohydrate-free, hydrolyzed protein-based formula (3232A). As a diagnostic test for specific carbohydrate malabsorption, the infant was challenged with glucose supplementation followed by fructose supplementation; his stool consistency worsened with the glucose challenge but improved with the fructose challenge. His stool pH and reducing substances were abnormal after the glucose challenge and normalized after the fructose challenge, thus indicating a clinical diagnosis of glucose-galactose malabsorption (GGM). At the time of discharge, the infant had documented weight gain and formed stools on carbohydrate-free, hydrolyzed protein-based formula (3232A) supplemented with fructose. At one-year follow-up after discharge, he continued to thrive with normal bowel movements. Outpatient genetic testing confirmed our diagnosis of GGM. GGM should be considered in infants with severe protracted, non-infectious, watery diarrhea lasting longer than two weeks. Early diagnosis and management of infants with GGM with a carbohydrate-free formula with specific carbohydrate supplementation are essential to prevent complications and ensure optimal growth and development.
先天性腹泻和肠道病（CoDEs）是婴儿慢性腹泻的罕见病因，诊断可能具有挑战性。本文讨论了在考虑CoDEs诊断时要识别的关键体征，并概述了诊断过程。我们报告了一名晚期早产双胞胎婴儿，出生后不久即出现顽固性水样腹泻。该婴儿为双胎妊娠，父母非近亲结婚，家族史无异常。他的双胞胎兄弟出生后无并发症，持续茁壮成长。该患者最初表现为血便，怀疑诊断为坏死性小肠结肠炎或牛奶蛋白诱导的过敏性结肠炎。然而，大量水样腹泻、生长发育不良和高钠血症脱水的出现使怀疑转向吸收不良性腹泻。广泛检查显示高钠血症代谢性酸中毒和粪便还原物质阳性。多次试用蛋白质水解物和基于元素氨基酸的配方奶粉均未能改善症状。然而，试用不含碳水化合物、基于水解蛋白的配方奶粉（3232A）后，粪便稠度有所改善。作为特定碳水化合物吸收不良的诊断试验，给婴儿补充葡萄糖，随后补充果糖；葡萄糖激发试验后他的粪便稠度恶化，但果糖激发试验后有所改善。葡萄糖激发试验后他的粪便pH值和还原物质异常，果糖激发试验后恢复正常，从而提示葡萄糖 - 半乳糖吸收不良（GGM）的临床诊断。出院时，该婴儿记录到体重增加，食用不含碳水化合物、基于水解蛋白并补充果糖的配方奶粉（3232A）后粪便成形。出院后一年随访时，他继续茁壮成长，排便正常。门诊基因检测证实了我们对GGM的诊断。对于患有严重持续性、非感染性、水样腹泻且持续时间超过两周的婴儿，应考虑GGM。早期诊断并使用不含碳水化合物并补充特定碳水化合物的配方奶粉对GGM婴儿进行管理，对于预防并发症以及确保最佳生长发育至关重要。
