Temporal intradiploic dilative vasculopathy: an additional pathogenic factor for the hearing loss in fabry disease?

Fabry disease (FD) is caused by progressive accumulation of neutral glycosphingolipids, including in ganglion neural and vascular endothelial cells, as a result of lysosomal α-galactosidase deficiency. High frequencies progressive sensorineural hearing loss (HL), sudden deafness, tinnitus and dizziness are otological symptoms frequently reported.A 45-year-old man with FD, on haemodialysis since age 25, complaining of progressive HL, was started on enzyme replacement therapy (ERT) because of cardiac complications. A bilateral sloping sensorineural HL was found at baseline audiological evaluation. Computed tomography of the ears showed enlargement of the intradiploic vascular channels, principally in the petrous bone. The magnetic resonance angiography showed elongation and ectasia of the middle cerebral arteries and the arteries of the Circle of Willis, particularly the internal carotid and the basilar arteries. Follow-up audiological evaluations documented progressive worsening of HL, mainly in the high frequencies range, despite high dose ERT and evidence of cardiac improvement.The intradiploic vascular abnormalities of the temporal bones reported herein have never been described in association with FD and may have contributed to the pathogenesis of progressive HL, by a 'stealing' effect upon the cochlear blood supply (like in cavernous haemangioma of the internal auditory meatus), in addition to the other mechanisms of ischaemic injury to the Organ of Corti described in FD. This clinical observation shows the value of comprehensive neuroimaging investigation of HL in FD and emphasizes the importance of early institution of specific therapy, before the occurrence of irreversible inner ear lesions and hearing damage.