Presentation:
A previously heathy 57-year-old gentleman, presented with neck pain of two months, hearing loss of one month and bilateral visual loss for three weeks, associated with rapid onset cognitive impairment as well as delusions and hallucinations.
On examination, hearing was decreased bilaterally. Visual acuity was counting fingers at one metre in the right eye and perception to light in the left, associated with right eye papilledema.
Investigations:
His blood tests were mostly unremarkable. A lumbar puncture revealed hemoserous fluid, which on FEME showed more than 200 RBCs, six WBCs and 1.32g of protein but with negative microbiology. An EEG showed the presence of severe diffuse encephalopathy, with additional lateralised left hemispheric slow activity, suggestive of structural abnormality.
MRI brain revealed notable T2 hypointensity diffusely coating the brain surfaces, consistent with superficial siderosis. There was diffuse cerebral volume loss. There was also moderate communicating hydrocephalus and blood-fluid levels in the occipital horns from intraventricular haemorrhage. A small intraventricular nodule demonstrating susceptibility artefacts and patchy enhancement was found abutting the left lateral ventricular wall, possibly a cavernoma or ependymoma. No haemorrhage was found on spinal MR imaging.
Discussion:
Superficial siderosis is caused by chronic hemosiderin deposition in the CNS leading to progressive and irreversible neurological dysfunction, characterized by a classic triad of sensorineural hearing loss, cerebellar ataxia and myelopathy as well as cognitive impairment less commonly. However, visual impairment has only been rarely reported. MRI findings are characteristic, with hemosiderin deposition best seen on T2 weighted imaging. In addition to characteristic imaging findings, the presence of blood-fluid levels in the ventricles from intraventricular haemorrhage and diffuse cerebral volume loss in our patient was not typical.