Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b
نویسندگان
چکیده
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.
منابع مشابه
FREE JEJUNAL GRAFT FOR TREATMENT OF ESOPHAGEAL STRICTURE DUE TO FAMILIAL EPIDERMOLYSIS BULLOSA
In this paper, two patients with severe dysphagia and esophageal stricture secondary to epidermolysis bullosa are presented and discussed. They are siblings of an affected family. Primary resection and anastomosis had been performed previously in both patients, but dysphagia had recurred. We treated these patients with free jejunal graft to the esophagus with excellent results. Both patient...
متن کاملOral sequelae of chronic neutrophil defects: case report of a child with glycogen storage disease type 1b.
متن کامل
Successful Use of Biliary Duct Balloon Dilator in Repairing Post-Surgical Esophageal Stricture in premature infant
Congenital esophageal atresia needs to be surgically corrected as soon as possible. Some will present with post surgical stricture that needs to be dilated by a balloon dilator. This procedure is difficult in premature born due to infant esophageal size and availability of equipments. We herby report the first case in a premature infant with post surgical esophageal stricture of esophageal atre...
متن کاملCan esophageal dilation be avoided in the treatment of severe esophageal stricture caused by eosinophilic esophagitis?
Eosinophilic esophagitis (EoE) is an inflammatory immune-mediated disease with predominant eosinophilic inflammation characterized by the presence of esophageal dysfunction symptoms. Treatment delay can be associated with disease complications, like esophageal strictures, that can justify the use of invasive procedures which are not deprived of side effects. We present a case report of a 14 yea...
متن کاملA New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
متن کامل