Vantomme N, Van Calenbergh F, Goffin J, Sciot R, Demaerel P, Plets C
Department of Neurosurgery, University Hospital Gasthuisberg, Leuven, Belgium.
Surg Neurol. 2001 Sep;56(3):201-4; discussion 204-5. doi: 10.1016/s0090-3019(01)00552-3.
Lhermitte-Duclos disease (LDD) is a hamartomatous overgrowth of cerebellar ganglion cells, which replace granular cells and Purkinje cells. In recent years several cases involving the association between LDD and Cowden's syndrome (CS), an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs, have been reported.
We reviewed the medical records and imaging studies of six patients with LDD who were treated at our institution, and we looked at other possible symptoms of CS.
Other clinical findings suggestive of CS were apparent in five patients: These included mucocutaneous lesions, acral keratosis, thyroid adenoma, fibrocystic disease, ovarian cyst, intestinal polyposis, and arteriovenous malformation. Only in the youngest patient, a 5-year-old boy, were no cutaneous or other signs found, despite extensive clinical and ultrasound examination.
Our observations strengthen the hypothesis that LDD is a neurological manifestation of CS. Patients with LDD should receive a thorough dermatological and systemic screening, because some of the lesions (breast, etc...) can develop into malignant tumors.
Lhermitte-Duclos病（LDD）是小脑神经节细胞的错构瘤样过度生长，其取代了颗粒细胞和浦肯野细胞。近年来，已有数例关于LDD与考登综合征（CS）关联的病例报道，CS是一种常染色体显性疾病，其特征为皮肤和内脏出现多发性错构瘤和肿瘤性病变。
我们回顾了在我院接受治疗的6例LDD患者的病历和影像学研究，并观察了CS的其他可能症状。
5例患者出现了提示CS的其他临床发现：这些包括皮肤黏膜病变、肢端角化病、甲状腺腺瘤、纤维囊性疾病、卵巢囊肿、肠息肉病和动静脉畸形。尽管进行了广泛的临床和超声检查，但仅在最年轻的患者（一名5岁男孩）中未发现皮肤或其他体征。
我们的观察结果强化了LDD是CS的一种神经学表现这一假说。LDD患者应接受全面的皮肤科和全身筛查，因为某些病变（如乳腺等）可能发展为恶性肿瘤。
