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

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/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.

Diagnosis and Treatment of Esophageal Candidiasis: Current Updates

“…Stricture to the esophagus may occur especially if the candida esophageal infection is accompanied by other conditions such as connective tissue disease or glycogen storage disease [37] or those without other underlying diseases [20].…”

CDG and immune response: From bedside to bench and back

“…Antibiotics—via IV or oral administration—have also been extensively used both as a preventive and curative measure. In general, a good response to antibiotic therapy (alone or in combination with Igs replacement therapy) has been observed …”

“…In general, a good response to antibiotic therapy (alone or in combination with Igs replacement therapy) has been observed. 82,86,[92][93][94]105,106,110,118,120,121,[149][150][151][152]166,204 Concerning autoimmune and inflammatory manifestations, anticholinesterase inhibitors and steroids have had fluctuating beneficial effects on CDG patients presenting with autoimmune myasthenia gravis. 144,182 Antiinflammatory and immunosuppressive agents have been employed to manage IBD in G6PC3-CDG.…”

Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management

“…Özen [ 17 ] classifies GSDs on the basis of the latest knowledge in the field, their enzymatic deficits or involved tissues, mainly on the basis of available case studies. Case studies and data collection during patient health monitoring prove an increase in the number of GSDs studies [ 18 , 22 , 23 ]. The knowledge and awareness of these complex metabolic pathologies are increasing.…”