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

Area of Science:

• Genetics and rare diseases
• Lysosomal storage disorders
• Otolaryngology

Background:

• Fabry disease is a lysosomal storage disorder caused by alpha-galactosidase A deficiency.
• It is inherited in an X-linked chromosomal pattern.
• Glycosphingolipid accumulation underlies the disease pathology.

Observation:

• Patients with Fabry disease can develop inner ear lesions.
• Clinical manifestations include sensorineural hearing loss and dizziness.
• This article presents a case study of a patient with Fabry disease and associated auditory symptoms.

Findings:

• The study details a clinical case of Fabry disease.
• It reviews existing literature on Fabry disease and inner ear manifestations.
• The findings highlight the connection between genetic disorders and otological symptoms.

Implications:

• Understanding the link between Fabry disease and inner ear problems is crucial for diagnosis.
• Early identification can lead to timely management of symptoms.
• This research contributes to the knowledge base for rare genetic diseases affecting the auditory system.