Hearing impairment in the Sturge‐Weber syndrome

Abstract

territories, bilateral glaucoma and seizuressince her infancy, followed by left amaurosis, who devel-oped a left progressive hearing loss over the last 2 years.As far as we know, this is the first case in the literaturereporting hearing loss among the clinical features of theSWS. The patient gave her consensus to this study, whichwas approved by the Ethical Committee.The SWS is a rare congenital disease, usually character-ized by neurocutaneous disorders with angiomas involvingthe leptomeninges, a facial port wine stain (PWS) over thetrigeminal area, seizures, headaches, ocular abnormalitiesand developmental disorders [1]. In the United States, theincidence of SWS is estimated at 1 per 50 000. Skullinvolvement is usually evaluated by CT scans and Gadolin-ium-enhanced MRI. CT scans can demonstrate bone thick-ening of the skull, hyperpneumatization of the paranasalsinuses and mastoid cells as well as elevation of the pet-rous ridge and of the greater wing of the sphenoid bone[2]. Gadolinium-enhanced MRI shows leptomeningeal angio-mas (LA), brain atrophy, accelerated myelination aroundthe LA and a large choroid plexus whose size correlateswith the extent of the LA [3,4].In our case, cerebral MRI showed thick diploe, hyper-pneumatization of paranasal sinuses, bilateral choroidalangioma, left cortical-subcortical parieto-occipital atrophy,left occipital hypointense tram-track gyral calcification onT2*GRE, serpentine leptomeningeal enhancement on T1 C+as pial angiomatosis, engorged ipsilateral choroid plexus,extensive meningeal enhancement on T1C+ in supra andinfratentorial region extended into the left internal auditorycanal (IAC) (Fig. 1). Gadolinium-enhanced MRI showed aleptomeningeal angiomatosis with a left internal auditorycanal engagement. At the audiological evaluation, pure toneaudiometry revealed a left sensorineural high frequencyhearing loss with acoustic immitance, stapedial reflexes andABR bilaterally normal, while vestibular examination dem-onstrated a left canal paresis (42%; normal range 0–22%).Indeed, this case is peculiar because of the acousticnerve involvement and the consequent hearing loss. Theentrapment of the left acoustic nerve in the internal audi-tory canal by the thickening of the leptomeninges, as docu-mented by MRI, could be suspected as the main cause ofhearing and vestibular loss. On the other hand, either theacoustic reflex, or ABR and speech audiometry showedloudness recruitment and no aspect of neural adaptation.These tests seemed to exclude a nerve disorder. It is wellknown that acoustic nerve lesions, such as schwannoma,frequently cause cochlear damage due to the compressionof the internal auditory artery: a similar mechanism mightalso have happened in our patient.In conclusion, sensorineural hearing loss can be addedto the clinical features of SWS and an audiologicalevaluation should be included in the follow-up of thesepatients.AddressDepartments of Audiology and Neuroradiology, FerraraUniversity, Ferrara, Italy (R. Bovo, A. Castiglione, A. Ciorba,M. Borrelli, A. Martini).