CASE REPORT Hemispheric venous dysgenesis in a woman presenting with seizures, weakness and parkinsonism Deep Das, 1 Michihiro Tanaka, 2 Biman Kanti Roy, 1 Vineeta Singh 3 1 Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India 2 Department of Neurosurgery, Kameda Medical Center, Kamogawa, Chiba, Japan 3 Department of Neurology, University of California, San Francisco, San Francisco, California, USA Correspondence to Dr Vineeta Singh, vineeta.singh@ucsfmedctr.org To cite: Das D, Tanaka M, Roy BK, et al. BMJ Case Rep Published online: [ please include Day Month Year] doi:10.1136/bcr-2013- 009413 SUMMARY This report describes an unusual case of a woman who developed progressive hemiparesis, seizures and hemiparkinsonism associated with MRI and angiographic evidence of chronic venous hypertension in the contralateral cerebrum and cerebellum. In the absence of inflammatory or veno-occlusive disorders, the patient’s clinical and neuroradiological findings point to a developmental disorder, such as a hemispheric venous dysgenesis, as the underlying lesion. BACKGROUND This middle-aged woman with an adult-onset pro- gressive neurovascular syndrome involving almost the entire right hemisphere had a unique and bizarre combination of extensive right hemispheric and cerebellar hemosiderosis, with cavernomas and absence of superficial veins restricted to the same regions. CASE PRESENTATION A 55-year-old right-handed woman presented with left-sided focal motor seizures with secondary gen- eralisation for 3 months, on a background of pro- gressive left-sided weakness and gradual loss of dexterity for 2 years. She had had a single general- ised seizure 2 days after an uncomplicated preg- nancy 19 years prior. There was no subsequent pregnancy after that. Details of the seizure were unknown, but her obstetric records did not suggest eclampsia or cerebral venous thrombosis. She was otherwise well without history of febrile seizures, headache, trauma, fever or other constitutional symptoms. She had not taken antipsychotic or antiemetic agents. The family history was non-contributory. Her vital signs and general examination were normal. Other than dysarthric, hypophonic speech, mental status and cognitive function appeared normal for her age and educational status, without inattention or neglect. In addition to left facial weakness and mild spastic hemiparesis, cog- wheeling and bradykinesia were noted in the left limbs, without postural instability or resting tremor. Sensory and cerebellar functions were normal. INVESTIGATIONS Complete blood count and routine chemistries, including glucose, were normal, as were iron studies and screening tests for rheumatological disorders. Non-contrast head CT ( figure 1) and MRI revealed right hemispheric cortical and subcortical calcifica- tions. The T1-weighted images without gadolinium showed diffuse cortical thickening, reduced white matter volume ( figure 2A) and hyperintense nodular areas resembling cavernomas in right centrum semio- vale ( figure 2B) and cerebellum. Susceptibility- weighted images ( figure 3) demonstrated extensive mineral deposition throughout the right hemisphere ( figure 3A,B). MR tractography ( figure 4) demon- strated severe loss of right hemisphere white matter fibre tracts. MR angiogram showed an attenuated appearance of the right middle cerebral artery without obvious stenosis or occlusion ( figure 5). Cerebral digital subtraction angiogram ( figure 6A) revealed absence of right cerebral and cerebellar cor- tical veins, with dilated deep medullary veins, and confirmed a dimunitive, but patent middle cerebral artery without vascular beading. DIFFERENTIAL DIAGNOSIS Chronic venous ischaemia has been hypothesised as causing the focal atrophy and extensive unilateral calcification occasionally seen adjacent to a devel- opmental venous anomaly (DVA). 1 We believe a similar process due to impaired venous drainage from the right hemisphere resulted in the extensive mineralisation seen in our patient’s head CT and MRI. Cavernomas usually arise de novo, but familial forms have also been reported. Our patient did not have typical risk factors for cavernoma such as head injury, cranial surgery, radiation and DVA. 2 We hypothesise that chronic venous hypertension, and venous ischaemia in the right hemisphere trig- gered release of angiogenic factors, resulting in Figure 1 Non-contrast head CT showing multiple patchy calcification along the right posterior parietal subcortical region and in centrum semiovale. Das D, et al. BMJ Case Rep 2013. doi:10.1136/bcr-2013-009413 1 Rare disease