Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b

  • Lee, Kyung Jae (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Choi, Shin Jie (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Woo Sun (Department of Radiology, Seoul National University College of Medicine) ;
  • Park, Sung-Sup (Department of Laboratory Medicine, Seoul National University College of Medicine) ;
  • Moon, Jin Soo (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ko, Jae Sung (Department of Pediatrics, Seoul National University College of Medicine)
  • Received : 2015.05.28
  • Accepted : 2015.07.06
  • Published : 2016.03.30
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Abstract

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 $1,000/{\mu}L$ 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.

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References

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