Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b

• Published in: Pediatric gastroenterology, hepatology & nutrition Vol. 19; no. 1; pp. 71 - 75
• Main Authors: Lee, Kyung Jae, Choi, Shin Jie, Kim, Woo Sun, Park, Sung-Sup, Moon, Jin Soo, Ko, Jae Sung
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 01.03.2016; 대한소아소화기영양학회
• Subjects: Case Report; 소아과학; Esophagitis; Esophageal stenosis; Candidiasis; Glycogen storage disease; Child
• ISSN: 2234-8646; 2234-8840
• DOI: 10.5223/pghn.2016.19.1.71

Esophageal candidiasis is commonly seen in immunocompromised patients; however, candida esophagitis induced stricture is a very rare complication. We report the first case of esophageal stricture secondary to candidiasis in a glycogen storage disease (GSD) 1b child. The patient was diagnosed with GSD type 1b by liver biopsy. No mutation was found in the G6PC gene, but SLC37A4 gene sequencing revealed a compound heterozygous mutation (p.R28H and p.W107X, which was a novel mutation). The patient's absolute neutrophil count was continuously under 1,000/µL when he was over 6 years of age. He was admitted frequently for recurrent fever and infection, and frequently received intravenous antibiotics, antifungal agents. He complained of persistent dysphagia beginning at age 7 years. Esophageal stricture and multiple whitish patches were observed by endoscopy and endoscopic biopsy revealed numerous fungal hyphae consistent with candida esophagitis. He received esophageal balloon dilatation four times, and his symptoms improved.