Von Hippel-Lindau disease in a pregnant lady

Von Hippel-Lindau disease is a rare genetic disorder characterized by various tumours and cysts in the central nervous system and other viscera. Here a case was described in a young female who was pregnant at the time of initial presentation with the complaints of occasional headache, low back pain and pain in the upper abdomen. After the birth of a healthy baby she was admitted to the hospital and the CT scan of upper abdomen suggested a multiloculated pancreatic cyst. MRI of thoracolumbar spine revealed an intracanalicular extradural mass and CT scan of brain revealed a cerebellar cystic mass. The spinal and cerebellar masses both were diagnosed histologically as haemangioblastoma. After a month she underwent laparotomy with near total pancreatectomy. Microscopically it was a microcystic cystadenoma. Based on the clinical presentation, imaging and histopathology of spinal, cerebellar and pancreatic lesions as well as a family history of her father's death due to brain tumour the final diagnosis was Von Hippel-Lindau disease.