Extensive Cerebral Venous Thrombosis as a Manifestation of an Uncommon Disease

Background: Cerebral venous thrombosis (CVT) has a wide range of manifestations and could be challenging to diagnose. Headache is the first and most frequent sign. Intracranial hypertension, encephalopathy, focal neurologic alterations or seizures could be associated. Thus, in presentations concerning CVT, urgent neuroimaging is necessary.

Objective and Methods: A 15 years old female, previously healthy, started a 5 day course of headache and vomiting, associated with left otitis media three days after the onset. Firstly observed in her hospital nearby, she started analgesia and antibiotics. Due the lack of improvement two days later, decreased muscle strength and paresthesias in the left upper limb, as well as left hypovision she resorted again. Normal neurological exam was described, except nuchal rigidity. No fever. A Computed Tomography angiography was performed, showing sagittal, recto and tranverse sinus thrombosis and cerebral edema. She was then transferred to our hospital and admitted in pediatric intermediate care unit. She started intravenous heparin, which was changed to warfarin and enoxaparin at the 13th day. In the Magnetic Resonance Imaging (MRI), extensive venous thrombosis was observed, with findings suggesting acute leukoencephalopathy and optic nerve compromise. Bilateral papilledema was observed. She initiated acetazolamide. The clinical outcome was good, with resolution of the complaints. MRI was repeated 15 days later, with some reduction in the venous congestion. The prothrombotic tests were negative, except elevated levels of homocysteine in urine suggesting classic homocystinuria, which was then confirmed with the mutation in CBS gene. She was discharged, keeping a close multidisciplinary follow up.

Conclusion: Classic homocystinuria is an autossomic recessive disease, related to the metionine metabolism and associated with prothrombotic events, so this patients must be monitored at regular intervals. Further investigations should be made in order to make a correlation with the abnormal extensive alterations in white matter and homocystinuria