Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report
作者机构：Department of GastroenterologyGuangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623Guangdong ProvinceChina
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2020年第8卷第10期
页 面：1995-2000页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
主 题：Primary intestinal lymphangiectasia Tuberous sclerosis complex Lymphedema Hypoproteinemia Children Case report
摘 要：BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal *** cause of the disease is *** a literature review,we found that PIL and tuberous sclerosis complex(TSC)have some common symptoms and molecular *** SUMMARY Here,we present the case of a patient with a three-year history of primary intestinal *** patient most recently visited the hospital with abdominal distension and swelling of the left *** mother told us that she was diagnosed with TSC one year previously,which alerted us because the patient had multiple regions of *** evaluate the condition of the child and make a definite diagnosis,multiple imaging examinations were performed,as was TSC gene *** results met the diagnostic criteria for *** patient was discharged after symptomatic *** a review of the literature,it can be seen that changes at the molecular gene level of TSC can lead to abnormal lymphatic *** In summary,when patients with hypomelanotic macules or enamel hypoplasia are diagnosed with PIL,TSC gene screening may be important for further diagnosis.
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