Endocrine Abstracts

Von-Hippel-Lindau syndrome (VHL) is an autosomal-dominant disorder associated with CNS haemangioblastomas, phaeochromocytomas, renal carcinomas and retinal haemangiomas. We present the case of a 33-year-old woman with VHL who developed clinical progression of a CNS lesion during pregnancy. The patient had undergone removal of a cerebellar haemangioblastoma at age 18, and bilateral phaeochromocytomas were removed at age 27. The only other abnormality on regular review was a mixed cystic and solid lesion at the conus, 1.9 cm in diameter. This was not associated with any CNS signs, and was presumed to be a further haemangioblastoma. It had been stable on serial imaging for 3.5 years.

In July 2007 she became pregnant, and at 12 weeks gestation was well with no CNS findings. At 22 weeks, however, she developed back pain with associated saddle anaesthesia and urinary incontinence. Urgent MRI showed the spinal lesion had grown to 6 cm in its maximal diameter with surrounding oedema, extending into the lower end of her spinal cord. The lesion, which proved to be a haemangioblastoma, could only be partially removed, along with some sacral innervation. At 33 weeks she presented with reduced foetal movements; CTG was indicative of foetal distress and she underwent emergency Caesarian section. A baby girl was delivered weighing 1.04 kg, who has remained well. Six months following delivery the patient continues to have an extensive sensory deficit, with impaired bladder function requiring self-catheterisation.

There are few case reports describing the management of Von-Hippel-Lindau in pregnancy. In one series of 56 pregnancies, maternal symptoms arose in only 3 patients. The cause of expansion of haemangioblastomas in pregnancy is not fully understood, and may be due to endocrine changes of pregnancy, or altered regulation of vascular growth. This case highlights the need to monitor carefully vascular lesions in patients with VHL during pregnancy.