A Case of Cronkhite-Canada Syndrome with a Colitis-mimicking Endoscopic Presentation

We report a case of a 58-year-old Japanese man with Cronkhite-Canada syndrome [CCS]. Informed consent was obtained from the patient. Of note, this case initially presented with colitis-like colonoscopic findings before showing typical polypoid lesions. The patient presented with intermittent abdominal discomfort, diarrhoea, and bloody stool. Physical examination showed mild abdominal tenderness. Although the serum white blood cell and red blood cell counts were normal, the C-reactive protein level was slightly high [1.42mg/dl, normal range < 0.17mg/dl]. Total protein was within normal range, but the serum albumin level was moderately decreased [3.1g/dl, normal range 4.0–5.0g/dl]. Faecal culture did not show pathogenic bacteria. He had undergone upper gastrointestinal endoscopy 3 months prior to the visit for a general health check, which showed normal findings [Figure 1a]. Colonoscopy examination showed redness, oedema, loss of the vascular appearance, and partial ulceration from the sigmoid colon to the caecum [Figure 1b]. However, spared mucosa was present and the rectum was almost intact. Biopsy of the affected lesion showed infiltration of neutrophils in the mucosa, incomplete crypt abscess, and loss of the goblet cells. The patient was given 5-amino salicylic acid orally, but his abdominal symptoms did not change. After the first visit, the patient experienced rapid progression of deformation of the nails, hair loss, and taste disturbance. The second upper gastrointestinal endoscopy, which was performed 6 months after the previous examination, showed reddish strawberry-like polyps throughout the gastric mucosa [Figure 1c]. Colonoscopy examination performed 3 months after the first examination showed a significant change in the lesion [ie a diffuse reddish polypoid appearance, which had extended to the rectum] [Figure 1d]. Histopathology of the rectal biopsy showed cystic and serrated dilatation of the ducts with oedematous stroma and infiltration of inflammatory cells. Therefore, the patient was diagnosed with CCS. After oral prednisolone administration, the clinical symptoms and endoscopic findings significantly improved and almost disappeared. [a] Endoscopic view of the gastric antrum 3 months before the first visit. [b] Colonoscopic findings of the descending colon at the time of the first visit. [c] Second endoscopic view of the gastric antrum 6 months after the previous examination. [d] Colonoscopic findings of the descending colon performed 3 months after the previous examination. CCS is a rare non-familial condition presenting as gastrointestinal hamartomatous polyposis with diarrhoea, malabsorption, hair loss, onychodystrophy, and taste disturbance, with an unknown cause.1,2 The majority of patients are > 50 years pld, and about two-thirds of the reported cases are of Japanese origin.3,4 Treatment includes: steroids; nutritional therapy, including total parental nutrition; 5-aminosalicylate acid; histamine H2 receptor antagonists; anti-tumour necrosis factor α agents; immunomodulators; eradication of Helicobacter pylori; and surgery or endoscopic resection for neoplasms and intussusception.3,4,5 The maintenance of endoscopic remission has been reported to lower the development of CCS-related cancer. Therefore, diagnosing CCS at the early stage and assessing the disease activity would benefit the prognosis of CCS patients.5 The current case demonstrated an important finding, indicating that CCS can initially present with inflammatory bowel disease-like symptoms. This work was supported by the Japan Society for the Promotion of Science KAKENHI [grant no: 2646097 to FT]. None. Shigetoshi Urabe was the primary investigator of this study. Yuko Akazawa critically reviewed the manuscript. Fuminao Takeshima gave important clinical input.

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