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Misdiagnosed pyriform sinus fistula revealed by iterative neck abscesses: A case report and review of the literature

ABSTRACT: The pyriform sinus fistula is a rare condition described as an epithelialized tract connecting the skin of the neck to the foregut, and may result in cervical cysts and iterative abscesses misleading the diagnosis. The clinical and radiological examinations are all useful. Surgery stands as one of the most effective therapeutic options consisting on the total excision on the eventual cyst, and the fistula that is followed to its inner opening on the pyriform sinus. We present a case of a 3-years-old boy with a pyriform sinus fistula that caused recurrent neck abscesses treated independently delaying the diagnosis. Once in our structure, after radiological examination and antibiotics to cool the infection down, the surgery removed the cyst with its tract that opened in the pyriform sinus. The follow up showed an effective result with the total disappearance of the lesion with no more infectious episodes. Even if it's a rare condition, the diagnosis of apyriform sinus fistula must be considered in front of every patient with a history of recurrentlatero cervical abscess. Highlights • The pyriform sinus fistula is a rare condition described as an epithelialized tract connecting the skin of the neck to the foregut, and may result in cervical cysts and iterative abscesses misleading the diagnosis• The clinical and radiological examinations are all useful• Surgery stands as one of the most effective therapeutic options consisting on the total excision on the eventual cyst, and the fistula that is followed to its inner opening on the pyriform sinus

SUBMITTER: Laababsi R

PROVIDER: S-EPMC7501404 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND:Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. Due to its rarity and complex clinical manifestation, misdiagnosis often occurs in clinical practice. CASE PRESENTATION:A 42-year-old man with multiple pedunculated colorectal polyps and concomitant rectal adenocarcinoma was admitted to our hospital. His mother had died of colon cancer. He was diagnosed with familial adenomatous polyposis (FAP) and underwent total proctocolectomy and ileal pouch anal anastomosis. Two polyps were selected for pathological examination. One polyp had cystically dilated glands with slight dysplasia. The other polyp displayed severe dysplasia and was diagnosed as adenoma. Three years later, his 21-year-old son underwent a colonoscopy that revealed more than 50 pedunculated colorectal juvenile polyps. Both patients harbored a germline pathogenic mutation in BMPR1A. Endoscopic resection of all polyps was attempted but failed. Finally, the son received endoscopic resection of polyps in the rectum and sigmoid colon, and laparoscopic subtotal colectomy. Ten polyps were selected for pathological examination. All were revealed to be typical juvenile polyps, with cystically dilated glands filled with mucus. Thus, the diagnosis of JPS was confirmed in the son. A review of the literatures revealed that patients with JPS can sometimes have adenomatous change. Most polyps in patients with JPS are benign hamartomatous polyps with no dysplasia. A review of 767 colorectal JPS polyps demonstrated that 8.5% of the polyps contained mild to moderate dysplasia, and only 0.3% had severe dysplasia or cancer. It is difficult to differentiate juvenile polyps with dysplasia from adenoma, which could explain why juvenile polyps have been reported to have adenomatous changes in patients with JPS. Therefore, patients with JPS, especially those with concomitant dysplasia and adenocarcinoma, might be easily diagnosed as FAP in clinical practice. CONCLUSIONS:Juvenile polyp with dysplasia is often diagnosed as adenoma, which might lead to the misdiagnosis of JPS as FAP. The differential diagnosis of JPS versus FAP, should be based on comprehensive evaluation of clinical presentation, endoscopic appearance and genetic investigations; not on the presence or absence of adenoma.

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Misdiagnosed pyriform sinus fistula revealed by iterative neck abscesses: A case report and review of the literature

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