Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature.

ABSTRACT

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.