An Autopsy Case Report of Von Hippel-Lindau Syndrome-Type 2C Masquerading as Pre-eclampsia and Resulting in Maternal and Foetal Mortality

Abstract

A 23-year-old female with seven months pregnancy, presented with gestational hypertension associated with mild proteinuria and was diagnosed clinically as pre-eclampsia and referred to tertiary care centre. She also had progressive breathlessness and giddiness. On examination, pallor, Blood pressure (BP) of 180/100 mm Hg and crepitations in left lower lung were noted. Laboratory investigations revealed neutrophilic leucocytosis and a profile of Disseminated Intravascular Coagulation (DIC). An ultrasound (USG) of the abdomen showed a gravid uterus with Intrauterine Foetal Death (IUFD) and a left adrenal mass. The clinical diagnosis was acute hypertensive heart failure with severe pre-eclampsia. She was put on three anti-hypertensives and ventilatory support, but she succumbed to her illness, within three days of admission. A complete autopsy was performed. The autopsy revealed hypertensive heart disease with marked left ventricular hypertrophy, severe coronary atherosclerosis, cystic bilateral adrenal pheochromocytoma, a cystic para-aortic paraganglioma, a pancreatic Neuroendocrine Tumour (NET) with lymph node metastasis. Hence, a diagnosis of DIC with refractory hypertension in Type 2C Von Hippel-Lindau (VHL) syndrome was established. VHL syndrome is an autosomal dominant disorder caused by germline VHL mutation which leads to development of various tumours. VHL disease is classified into four subtypes and VHL type 2C has predominantly pheochromocytomas without haemangioblastoma and Renal Cell Carcinoma (RCC). As the patient mimicked pre-eclampsia clinically, the diagnosis of VHL was missed. Bilateral adrenal cystic masses with gestational hypertension should be thoroughly evaluated, at the earliest, for familial pheochromocytomas or VHL syndromes as they may prove fatal.