PJS综合征1例报告

Samruddhi S Bhakare
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引用次数: 0

摘要

Peutz - Jeghers综合征是一种常染色体显性遗传病,发病率为1/15,000,特征为胃肠道错构瘤性息肉,嘴唇、颊黏膜、口周区和/或面部皮肤黑色素沉积,以及PJS家族史。作者报告了印度一家超级专科医院收治的一名9岁儿童PJS病例,他的主诉是腹部反复痉挛、腹痛、呕吐、食欲不振和口腔病变。腹部超声心动图及CT显示小肠多发息肉。患儿行剖腹手术,但因便秘、呕吐、口腔烧灼感伴口腔病变反复入院。本报告描述了这种罕见的情况。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case Report on PeutzJegherandrsquo;s Syndrome (PJS)
Peutz - Jeghers syndrome is an autosomal dominant disease, with an incidence of 1/15,000 characterised by hamartomatous polyps of the gastrointestinal tract, melanin deposits in the lips, buccal mucosa, perioral area and/or facial skin and a family history of PJS. The author reports a case of PJS in a 9 year old child admitted to a super specialty hospital in India, who presented with complaints of recurrent cramping in abdomen, abdominal pain, vomiting, loss of appetite and oral lesions. The USG and CT scan abdomen revealed multiple polyps in the small intestine. Laprotomy was done, but the child had recurrent admission in hospital due to constipation and vomiting and burning sensation in oral cavity with oral lesions. This report describes about this rare condition.
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