Shi Weina, Fu Haiyan, Zhao Shiguang, Cheng Shuhuan, Hou Shaogang, Zhao Ruiqin
Department of Gastroenterology, Children's Hospital of Hebei Province, Shijiazhuang, Hebei, China.
Front Pediatr. 2024 Sep 24;12:1451472. doi: 10.3389/fped.2024.1451472. eCollection 2024.
Cronkhite-Canada syndrome (CCS) is extremely rare in children, presenting with complex clinical manifestations often leading to misdiagnosis.
We reported a description of a 13-year-old boy with CSS presenting with persistent diarrhea, vomiting, abdominal pain, along with symptoms of weight loss, alopecia, and skin hyperpigmentation. The patient had ectodermal manifestations such as alopecia and skin hyperpigmentation. Laboratory tests revealed hypoalbuminemia, normal inflammatory indicators, positive anti-dsDNA antibodies, anti-centromere antibodies, and anti-nuclear antibodies. Gastrointestinal endoscopy identified polypoid changes in the stomach, duodenum, and colon, with pathology indicating glandular dilation, cryptitis, and crypt abscesses. Treatment with prednisone led to significant improvement in symptoms, including normalization of stool consistency, hair regrowth, and disappearance of skin hyperpigmentation.
This study emphasizes the importance of comprehensive assessment, endoscopic examination, histological biopsy, and the effectiveness of steroid therapy in the diagnosis and management of CCS in children. In children presenting with diarrhea, abdominal pain, weight loss, polyposis, and ectodermal manifestations, CCS should be considered.
克朗凯特-加拿大综合征(CCS)在儿童中极为罕见,临床表现复杂,常导致误诊。
我们报告了一名13岁患CCS的男孩,其表现为持续性腹泻、呕吐、腹痛,伴有体重减轻、脱发和皮肤色素沉着等症状。该患者有脱发和皮肤色素沉着等外胚层表现。实验室检查显示低白蛋白血症,炎症指标正常,抗双链DNA抗体、抗着丝点抗体和抗核抗体阳性。胃肠内镜检查发现胃、十二指肠和结肠有息肉样改变,病理显示腺体扩张、隐窝炎和隐窝脓肿。泼尼松治疗使症状显著改善,包括大便性状恢复正常、头发再生和皮肤色素沉着消失。
本研究强调了全面评估、内镜检查、组织活检以及类固醇治疗在儿童CCS诊断和管理中的重要性。对于出现腹泻、腹痛、体重减轻、息肉病和外胚层表现的儿童,应考虑CCS。