Kamoshima Yuuta, Sawamura Yutaka, Iwasaki Yoshinobu K, Fujieda Kenji, Takahashi Hiroyuki
Department of Neurosurgery, Hokkaido University School of Medicine, 15-7 Kita-ku, Sapporo-shi, Hokkaido 060-8638, Japan.
No Shinkei Geka. 2008 Jun;36(6):535-9.
Carney complex is a rare autosomal-dominant, familial tumor syndrome first described in the mid 80's. This syndrome is multiple neoplasia syndrome featuring cardiac, endocrine, cutaneous, and neural tumor, in addition to a variety of pigmented lesions of the skin and mucosa. We report the case of a 12-year-old female patient with Carney complex who manifested a high value of serum growth hormone (s-GH), cutaneous angiomyxomas and labial pigmented lesions. Magnetic resonance imaging (MRI) revealed a cystic pituitary tumor. We carried out removal of the pituitary tumor via the transsphenoidal approach. In addition to the pituitary adenoma, pathological examination revealed the presence of a Rathke cleft cyst. So far, approximately 500 cases of this disorder have been described, but there have been no cases similar to our case described here. Therefore, the present case seems to be the first case of Carney Complex complicated with pituitary adenoma and Rathke cleft cyst.
卡尼综合征是一种罕见的常染色体显性遗传性家族性肿瘤综合征,于80年代中期首次被描述。该综合征是一种多发性肿瘤综合征,除了皮肤和黏膜的各种色素沉着病变外,还具有心脏、内分泌、皮肤和神经肿瘤的特征。我们报告了一例12岁患有卡尼综合征的女性患者,其血清生长激素(s-GH)值升高,伴有皮肤血管黏液瘤和唇部色素沉着病变。磁共振成像(MRI)显示垂体有一个囊性肿瘤。我们通过经蝶窦入路切除了垂体肿瘤。除垂体腺瘤外,病理检查发现存在拉克氏囊肿。到目前为止,已报道了约500例这种疾病,但尚无与我们这里描述的病例类似的情况。因此,本病例似乎是首例合并垂体腺瘤和拉克氏囊肿的卡尼综合征病例。