Progressive hearing loss in Fabry’s disease: a case report

Barras, Florian M.; Maire, Richard

doi:10.1007/s00405-006-0023-0

Cited by 9 publications

(4 citation statements)

References 14 publications

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“…Fabry disease frequently leads to the inner ear dysfunctions, such as sensorineural hearing loss, sudden deafness, tinnitus, and dizziness or vertigo (20). Hearing loss in FD is due to the accumulation of GL-3 in the inner ear (21).…”

Section: Discussionmentioning

confidence: 99%

Balance control impairments in Fabry disease

et al. 2022

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BackgroundFabry disease (FD) is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to an accumulation of glycosphingolipids leading to progressive and multisystemic disease, including renal, cardiac, and neurological damages. FD may also have neuro-otological and visual impairments, which can generate postural control alterations, inner ear, and vision being involved in this function. This study aimed to evaluate the impact of FD on postural control.MethodsIn total, fourteen adult patients (8 men/6 women, mean age = 37.6 ± 11.4 years) and two children (mean age = 11 years) with FD and 19 healthy adults (12 men/7 women, mean age = 36.5 ± 16.9 years) and two healthy children (mean age = 10.5 years) took part in this study. Postural control was evaluated by a sensory organization test combining three visual situations (eyes open, eyes closed, and sway referenced visual surround motion) with two platform situations (stable platform and sway referenced platform motion), aiming to calculate a composite equilibrium score (CES), a high score being representative of good postural control. Somatosensory (RSOM), visual (RVIS), and vestibular (RVEST) contributions to postural control were calculated, a low score reflecting a poor use of the indicated sensory input.ResultsThe CES was lower in adult patients with FD compared with the healthy subjects (p < 0.001). RVIS (p = 0.001) and RVEST (p = 0.003) were lower in patients with FD compared with the control group, whereas no difference in RSOM was observed.ConclusionInner ear and visual pathologies associated with the central nervous system impairments are factors of postural control impairments. Physical activities, which can also be rehabilitative, by maintaining or increasing the weight of proprioception, may help diminish dependency on altered sensorial inputs.

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Section: Discussionmentioning

confidence: 99%

Balance control impairments in Fabry disease

et al. 2022

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“…In our case, however, consistent enzyme replacement therapy could not prevent sudden hearing loss of the young patient. Only 1 case report demonstrates an attempt at treating sudden deafness in a patient with Fabry disease, by administering 1 mg/kg prednisone during 10 days, with no significant recovery [12] . Similarly, in the presented case, therapy with 250 mg/day showed no beneficial effects after 3 days.…”

Section: Discussionmentioning

confidence: 99%

Hyperbaric Oxygen Treatment Restores Sudden Hearing Loss in a Patient with Fabry Disease

Frantz

Pontz²,

Arnold

2008

ORL

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Fabry disease is an X-linked inherited disorder of glycosphingolipid metabolism due to the deficient activity of a lysosomal enzyme, α-galactosidase A. The resultant systemic accumulation of sphingolipids can lead to progressive and sudden hearing loss alongside renal, cardiac and cerebrovascular complications. Although replacement therapy seems to be beneficial for cochlear function, few data are available regarding treatment of sudden hearing loss. This case report describes the course of a unilateral sudden hearing loss in a young (15-year-old) male patient and its improvement following hyperbaric oxygen treatment.

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“…The abnormalities of the stria and spiral ligament can lead to an endolymphatic hydrops, and thrombotic zones in the cerebellar vermis and vestibular nuclei occasioned by focal infarcts cause disturbance in the balance system. The major cause of dizziness is an alteration of the central balance centers, 13 but Vibert et al 14 have proposed that endolymphatic hydrops due to an obstruction of the semicircular canals could be other reason. The frequency of vertigo episodes is as similar as tinnitus and the incidence increases with age.…”

Section: Cochleovestibular Manifestationsmentioning

confidence: 99%

Cochleovestibular Manifestations in Fabry Disease

Cicerán

Maio

2016

Journal of Inborn Errors of Metabolism and Screening

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Fabry disease is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity and globotriaosylceramide accumulation throughout the body. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. Although hearing loss is recognized in these patients, its incidence and natural history have not been characterized. Hearing disorders develop mainly in adulthood, and tinnitus may be an earlier symptom in Fabry disease. A significant incidence of mid- and high-frequency sensorineural hearing loss in affected males is commonly reported, whereas in female carriers, it is much less frequent. In addition, a high incidence of vestibular disorders with dizziness and chronic instability is also observed in these patients. The few studies about the effects of enzyme replacement therapy (ERT) on cochleovestibular symptoms show controversial results. Based on the model of densely stained material accumulation in the inner ear, stria vascularis cell, and organ damage, an early indication of ERT may prevent hearing loss due to the reduction in substrate accumulation.

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Progressive hearing loss in Fabry’s disease: a case report

Cited by 9 publications

References 14 publications

Balance control impairments in Fabry disease

Balance control impairments in Fabry disease

Hyperbaric Oxygen Treatment Restores Sudden Hearing Loss in a Patient with Fabry Disease

Cochleovestibular Manifestations in Fabry Disease

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