Carney complex (CNC) has been defined as “a complex of spotty skin pigmentations, cardiac myxomas, and endocrine overactivity.” It is inherited in an autosomal dominant manner. The incidence of acromegaly has been estimated at less than 15% in patients with CNC. We report a patient with acromegaly who had an overt family history of CNC.
A 20-year-old woman volunteered to undergo mutation analysis for the PRKAR1A gene that showed mutations its exon 2 in genomic DNA isolated from leukocytes. She manifested spotty skin, labial pigmented lesions on the face, and enlargement of her nose and mandible. Though she was found to have normal levels of growth hormone and insulin-like growth factor-Ⅰ, her oral glucose tolerance test result was abnormal. Magnetic resonance imaging revealed a tiny, minutely enhanced area on the left side in the sella turcica. During the transsphenoidal surgery, degenerated gray-white tissues were observed in the pituitary gland and were extirpated for pathology.
Immunohistochemical studies of the specimen revealed the typical pattern seen with CNC growth hormone (GH) tumors, displaying the deletion of the PRKAR1A gene. Postoperatively, the results of the oral glucose tolerance test became normal, and no additional treatment was administered.
Although CNC is a hereditary syndrome of considerable importance to neurosurgeons, many neurosurgeons are not aware of it because of its rarity. Therefore, this report attracts special attention to the importance of clinical and genetic manifestation in CNC patients since they are predisposed to GH adenomas.
"},{"@language":"ja","@value":"カーニー複合は, 皮膚色素沈着, 心臓粘液腫, 内分泌腫瘍を主要徴候とする遺伝性疾患である. 症例は20歳女性で, カーニー複合の責任遺伝子であるPRKAR1Aの変異を認めた. 上下口唇に色素性病変がみられ, 血糖負荷では成長ホルモン値は抑制されなかった. MRIのT2強調画像では高信号域の微小な腫瘤が下垂体内部にみられた. 経蝶形骨洞手術により, 灰白色の腫瘤を摘出した. 病理学的には腫瘍細胞はGH陽性でPRKAR1A遺伝子の消失を認めた. 術後の負荷試験ではGH値は抑制され, 経過観察中である. カーニー複合は一般の脳神経外科医にはなじみが少ないと思われ, 本例を提示して本疾患の基本的事項を報告する.
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