OBJECTIVE

The association of pseudotumor cerebri, visual impairment, hypothyroidism, polycystic ovary syndrome (PCOS), and a hypercoagulable state due to a factor V and a prothrombin mutation has not been reported previously.

METHODS

A 20-year-old obese woman developed menstrual cycle irregularities since age 14 years, initially bitemporal and latter diffuse headache since age 14 years, and bilateral visual impairment, described as sparkling black points. Ophthalmologically there was a recurrent papilledema. Clinical neurologic investigations revealed sore neck muscles and hirsutism. Magnetic resonance imaging of the brain, orbita and cervical spine, and investigations of cerebrospinal fluid were non-informative. Visually evoked potentials revealed demyelination of the optic nerves. Gynecologic investigations revealed PCOS and endocrinologic investigations hypothyroidism and hyperandrogenism. Tests for thrombophilia disclosed a heterozygote state for the G1.697A factor V Leiden and the G20.210A prothrombin mutation. A possible relationship between pseudotumor cerebri and the ophthalmologic, gynecologic, endocrinologic and coagulation abnormalities is discussed.

CONCLUSIONS

For the first time we describe the association of pseudotumor cerebri, optic nerve demyelination, PCOS, other endocrinologic abnormalities, and thrombophilia due to a factor V and prothrombin mutation. A causal relationship between these abnormalities remains elusive.