tailieunhanh - báo cáo khoa học: "A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report | Demura et al. Journal of Medical Case Reports 2010 4 347 http content 4 1 347 jAg JOURNALOF medical ÌỤr case REPORTS CASE REPORT Open Access A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome a case report Masashi Demura 1 Takashi Yoneda1 Shigehiro Karashima1 Toshinori Higashikata2 Hiroshi Mabuchi3 Mitsuhiro Kawano4 Masakazu Yamagishi5 Yoshiyu Takeda1 Abstract Introduction The combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare. To the best of our knowledge double endocrine tumors in association with heart-hand syndrome have not previously been reported. Case presentation A 21-year-old Japanese woman presented with galactorrhea and decreased visual acuity. A large pituitary adenoma with an increased level of serum prolactin was apparent by computed tomography. She additionally showed mild hypertension 136 90 mmHg accompanied by hypokalemia. The plasma aldosterone concentration was increased. Computed tomography showed a mass in the right adrenal gland. No other tumors were found despite extensive imaging studies. Physical and radiographic examinations showed skeletal malformations of the hands and feet including hypoplasia of the first digit in all four limbs. An atrial septal defect was demonstrated by echocardiography. Similar digital and cardiac abnormalities were detected in our patient s father and a clinical diagnosis of hereditary heart-hand syndrome was made. Conclusion No established heart-hand syndrome was wholly compatible with the family s phenotype. Her father had no obvious endocrine tumors implying that the parent of transmission determined variable phenotypic expression of the disease heart-hand syndrome with multiple endocrine tumors from the paternal transmission or no endocrine tumor from the maternal transmission. This suggests that the gene or genes responsible for the disease may be under .