A Case of Pseudotumor Cerebri in a Patient with Thrombophilia

Abstract number: P0403

Rott H, Halimeh S, Kappert G, Trobisch H

Pseudotumor cerebri (PTC) is a syndrome disorder defined clinically by four criteria: (1) elevated intracranial pressure as demonstrated by lumbar puncture; (2) normal cerebral anatomy, as demonstrated by neuroradiographic evaluation; (3) normal cerebrospinal fluid composition; and (4) signs and symptoms of increased intracranial pressure, including papilledema. Many conditions and factors have been proposed as causative agents of PTC, including excessive dosages of some exogenously administered medications (e.g., vitamin A, tetracycline, minocycline, naladixic acid, corticosteroids), endocrinologic abnormalities, anemias, blood dyscrasias, and chronic respiratory insufficiency. However the majority of cases remains unclear. As described elsewhere (1), a high proportion of patients with PTC have evidence of venous outflow obstruction and underlying thrombophilia. In the recent years therefore a few case descriptions of a linkage between thrombophilia as a common risk factor in PCT have been published (2,3). We describe a case of a 32-year old women with pseudotumor cerebri after taking oral contraceptive. The symptoms were headache and a papilledema, leading to the diagnosis. Investigation for thrombophilia showed the following results: prothrombin-mutation G20210A heterozygous, Factor-XII-deficiency heterozygous (activity 40%). A venous outflow obstruction is therefore probably the reason for PTC in this patient. The patient is now treated with a low molecular heparin 100 Anti-Xa-IE/kg body weight once daily s.c.

Conclusion:  Patients with PTC should get a thrombophilia screening and should be investigated for sinus venous thrombosis and/or venous outflow obstruction. An anticoagulation in these patients might be necessary.

References:

1. Dunkley S, Johnston I: Thrombophilia as a common predisposing factor in pseudotumor cerebri. Blood 2004 Mar 1;103(5):1972–3.

2. Backhouse O et al: Factor V Leiden mutation in association with idiopathic intracranial hypertension. Br J Ophtalmol. 1998 Jul;82(7):844.

3. Glueck CJ et al: Idiopathic intracranial hypertension: association with coagualation disorders and polycystic-ovary syndrome. J Lab Clin Med. 2003 Jul;142(1):35–45.