Hoffman William H, Lee Jeffrey R, Kovacs Kalman, Chen Harold, Yaghmai Farivar
Department of Pediatrics, Medical College of Georgia, Augusta, GA 30912, USA, and Department of Pathology, St. Michael's Hospital, Toronto, ON, Canada.
Pediatr Dev Pathol. 2007 Jan-Feb;10(1):55-60. doi: 10.2350/06-05-0085.1.
We present the 1st autopsy findings of a child who had Johanson-Blizzard syndrome (JBS) and hypopituitarism. The patient died of acute bronchopneumonia at the age of 4 years. The autopsy revealed a small undescended pituitary that contained a glial hamartoma and a small rim of adenohypopysial cells, which were minimally reactive immunohistologically only for growth hormone. We review the literature with regard to other cases of JBS and hypopituitarism and pituitary function. The need for evaluating pituitary function in all patients with JBS is stressed. At the time of his death, our patient had no clinical evidence of pancreatic exocrine deficiency, and the histology of the pancreas revealed a normal number of acini; however, the acinar cells had an immature appearance. The microlobules were separated by loose fibrous tissue, and there was extensive periductal fibrosis. The spectrum of the pathognomic feature of congenital pancreatic exocrine insufficiency in JBS is discussed.
我们报告了首例患有乔汉森-布利扎德综合征（JBS）和垂体功能减退症儿童的尸检结果。该患者4岁时死于急性支气管肺炎。尸检发现垂体较小且未降入蝶鞍，其中有一个胶质错构瘤和一小圈腺垂体细胞，这些细胞免疫组化仅对生长激素有微弱反应。我们回顾了有关JBS合并垂体功能减退症及垂体功能的其他病例的文献。强调了对所有JBS患者评估垂体功能的必要性。在患者死亡时，无胰腺外分泌功能不全的临床证据，胰腺组织学检查显示腺泡数量正常；然而，腺泡细胞外观不成熟。微小叶被疏松纤维组织分隔，且有广泛的导管周围纤维化。讨论了JBS先天性胰腺外分泌功能不全的特征谱。
