Presentation
The patient presented acutely with a seizure accompanied by a headache. There was no reported history of craniofacial trauma.
Patient Data
Non-contrast CT of the brain demonstrates an intraparenchymal haematoma in the right paramedian superior frontal region with the extension of haemorrhage into the adjacent subarachnoid space and slight hypodensity and swelling of the neighbouring cortical gyri, highly suggestive of a haemorrhagic venous infarction in the territory of the right cortical vein of Trolard.
Bilateral ectopia lentis is noticeable in the orbits.
MRI of the brain demonstrates the hyperacute to acute nature of the IPH as peripheral areas with high T2/low T1 and more central areas with iso T1/low T2 signal intensities, respectively. Low signal areas on DWI/ADC images in the haematoma are mainly secondary to the susceptibility artefact from blood products (T2-black out).
Increased T2/FALIR signal, decreased T1 signal, and restricted diffusion in the right superior frontoparietal grey matter are compatible with areas of cytotoxic oedema due to ischaemia/infarction.
There is high signal intensity in FLAIR images in the neighbouring sulci secondary to SAH.
Coronal brain MRV with contrast shows a filling defect in the right cortical vein of Trolard and adjacent superior sagittal sinus, compatible with venous thrombosis.
In addition to the findings on previous modalities, CT angiography of the neck and brain demonstrates long-segment stenosis of the left extracranial ICA as well as bilateral long-segment stenosis of the petrosal, laceral, and cavernosal segments of the intracranial ICAs, and the intracranial segment of the right vertebral artery.
On limited views of the thorax, there is evidence of the pectus excavatum displacing the heart to the left side. A filling defect in the subsegmental branches of the posterior basal segment of the right lower lobe compatible with PTE is noticeable. The aortic root and ascending aorta appear unremarkable.
Case Discussion
Considering the presence of acute cerebral venous thrombosis with haemorrhagic infarction, along with findings of multiple long-segment arterial stenoses, bilateral ectopia lentis, a subsegmental pulmonary embolism (PTE), and pectus excavatum, a diagnosis of homocystinuria is considered the most likely underlying aetiology explaining all of the imaging findings.
There was no relevant medical history.
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