Reversible diencephalic dysfunction as presentation of deep cerebral venous thrombosis due to hyperhomocysteinemia and protein S deficiency: Documentation of a case
A 45-year-old man, alcohol consumer, non-smoker, without co-morbidities, presented with abnormal behavior for 3 days and global headaches with vomiting for 6 days developing few hours after a cross-country run of 13 km at 7,000 ft. There was no seizure, loss of consciousness, fever or head injury. He was afebrile, conscious, abulic and uncooperative with normal vitals. Rest of the examination was normal.\nA non contrast computed tomography scan of head was normal. Magnetic resonance imaging (MRI) brain showed hyperintense signal in bilateral thalami, left basal ganglia and periventricular white matter on T1 and T2-weighted images (T1WI, T2WI) and fluid attenuated inversion recovery image (FLAIR), and hyperintense internal cerebral veins suggestive of subacute thrombosis [Figure and ]. DWI revealed heterogeneous signal intensity without hypointensity on ADC map corresponding to vasogenic edema [Figure and ]. Gradient echo image showed susceptibility artefacts compatible with hemorrhagic component of venous infarct []. Magnetic resonance venography (MRV) did not reveal the deep venous system, which was visualized on T1WI indicating thrombosis, while superior sagittal and lateral sinuses were patent [].\nHis condition steadily improved on low molecular weight heparin (LMWH) bridged with acitrom. Mini mental status examination improved from 20/30 to 29/30 by 3 weeks. At 2 months, he was asymptomatic with serum homocysteine of 31.51 μmol/l (5.46-16.2 μmol/l), and at this time, after discontinuation of acitrom for 2 weeks, the protein S was 49.00% (77-143.00%), and protein C 118.40% (70-140.00%); factor V Leiden mutation, methylene tetrahydrofolate reductase (MTHFR) gene mutation (C677T) and prothrombin gene G20210A mutation were not detected. Anti-phospholipid IgG antibody was 4.53 GPL U/ml (0.5-10.0) and IgM antibody was 2.77 MPL U/ml (0.5-10.0). Anti-neutrophil cytoplasmic antibody and rheumatoid factor were negative.\nHe was treated with methylcobalamin, pyridoxine and folic acid. Oral anticoagulation was continued for 1 year only. After 16 months, he remained asymptomatic with normal MRI brain [] and partially recanalized deep cerebral venous system on MRV, and serum homocysteine fell to 16.50 μmol/l (5.46-16.2 μmol/l).