• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.12 no.1
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• pp.46-50
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• 2009

Cowden's syndrome is a harmatomatous polyposis syndrome with characteristic mucocutaneous lesions and among the spectra of clinical disorders that has been attributed to germline mutations in the PTEN gene. Although Cowden's syndrome has rarely been reported, immunologic studies have revealed that patients with this syndrome have humoral and/or cellular immune abnormalities. We recently identified a 21-year-old woman with Cowden's syndrome who was diagnosed with candida esophagitis without a history of diabetes, carcinoma, or steroid therapy. We report the immunologic status of this patient and the relationship with candida esophagitis on the basis of a literature review.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.19 no.1
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• pp.71-75
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• 2016

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.

• Nuclear Medicine and Molecular Imaging
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• v.41 no.2
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• pp.181-183
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• 2007