Wells G B, Lasner T M, Yousem D M, Zager E L
Division of Neuropathology (Department of Pathology and Laboratory Medicine), Hospital of the University of Pennsylvania, Philadelphia.
J Neurosurg. 1994 Jul;81(1):133-6. doi: 10.3171/jns.1994.81.1.0133.
Recent reports of seven cases of Lhermitte-Duclos disease occurring in adult patients with Cowden's syndrome (multiple hamartoma syndrome) strongly suggest that Lhermitte-Duclos disease is one of the types of neoplasia that characterize this syndrome. A case of Lhermitte-Duclos disease is reported in a 16-year-old girl with craniomegaly, choroidal hamartoma, and conjunctival papilloma of the right eye, and a history of bilateral multinodular adenomatous goiter and cystic hygroma. These findings strongly suggest a diagnosis of Cowden's syndrome. Although the syndrome traditionally has been defined by mucocutaneous criteria, it typically also involves hamartomas and neoplasia of internal organs, most commonly in the thyroid, breast, and female genitourinary tract. Because the mucocutaneous features may develop several decades after birth, the present case both supports the previously reported association between Lhermitte-Duclos disease and Cowden's syndrome and highlights the need for long-term follow-up monitoring of a pediatric patient with Lhermitte-Duclos disease because of the risk of malignancies associated with Cowden's syndrome.
近期有报告称，成年考登综合征（多发性错构瘤综合征）患者中出现了7例Lhermitte-Duclos病，这有力地表明Lhermitte-Duclos病是该综合征所特有的肿瘤类型之一。本文报告了1例16岁女孩患Lhermitte-Duclos病的病例，该女孩有头颅增大、脉络膜错构瘤和右眼结膜乳头状瘤，并有双侧多结节性腺瘤样甲状腺肿和囊性水瘤病史。这些发现强烈提示考登综合征的诊断。尽管该综合征传统上是根据黏膜皮肤标准定义的，但它通常还涉及内脏器官的错构瘤和肿瘤，最常见于甲状腺、乳腺和女性泌尿生殖道。由于黏膜皮肤特征可能在出生后数十年才出现，本病例既支持了先前报道的Lhermitte-Duclos病与考登综合征之间的关联，也凸显了对患有Lhermitte-Duclos病的儿科患者进行长期随访监测的必要性，因为考登综合征存在发生恶性肿瘤的风险。
