Pregnancy associated quadriparesis in a patient with Von-Hippel Lindau disease.

Abstract

Sirs: Von-Hippel Lindau (VHL) disease is a dominantly inherited disease characterized by hemangioblastomas of the central nervous system, retina and viscera and is also associated with cysts and tumors of the viscera [1, 4, 7]. The course of the disease during pregnancy is not well established, but reports in the literature favor a benign course during that period. This case report presents a patient with VHL and recurrent deterioration in the neurological status during her pregnancies. A 34-year-old woman, pregnant for the third time, was admitted to our medical center at 33 weeks gestation with complaints of progressive quadriparesis, urinary and fecal incontinence. Her initial complaints had started 12 years previously, during her second pregnancy, with severe pain radiating to upper and lower extremities followed by paresthesia and weakness in the right leg. Her symptoms were partially relieved during the post-partum period. Two years after the onset of initial complaints, she experienced a sudden onset of weakness progressing to total quadriplegia, within 24 hours. Computed tomography, performed in another medical center, revealed a hemorrhagic cervical mass lesion. She was operated for this lesion, but the nature of the mass was not established by pathological examination. In the post-operative period, following neuro-rehabilitation, she was ambulatory with aid and had partial motor deficit in her upper extremities. During the first trimester of her third pregnancy, progression in lower extremity weakness and severe numbness below the nipple level involving the whole body occurred. She was totally bed-ridden and complained of fecal and urinary incontinence at the end of second trimester. Upper extremity weakness also progressed during the third trimester. No report of consanguinity or family history of similar disease was present. In her initial neurological evaluation, retinal hemangioma in the left eye, bilateral horizontal nystagmus, paraplegia, asymmetric paresis of the upper extremities, anesthesia below T10 level, increased deep tendon reflexes and bilateral extensor plantar responses were detected. Routine laboratory examination including complete blood count, renal and liver function tests, serum electrolytes, electrocardiography and chest radiographs were within normal limits. In her cranial and spinal MRI, multiple lesions consistent with hemangioblastomas were detected in the cerebellum, and at upper cervical and lower thoracic levels (Figs. 1 and 2). As these findings were suggestive of VHL, the patient was evaluated further for other systemic involvement. By abdominal ultrasonograpy, bilateral renal multiple cysts and hepatic hemangioma were detected. Multiple pancreatic cysts were also seen in abdominal computed tomography examination. No adrenal pathology was evident and urine measurement of catecholamines and their metabolites were within normal limits. The patient gave birth to a male fetus by vaginal delivery with an Apgar score of 0, one week after hospitalization. No abnormality was found in the autopsy of the fetus. The patient declined further medical examination and was disLETTER TO THE EDITORS