Obviously, it‘s Morbus Menière?!

Introduction Spinocerebellar ataxia (SCA) is a hereditary disease with cell death in the cerebellum and spinal cord. Nystagmus and movement disorders are clinically observed. A rare subtype (SCA 13) also shows balance and hearing disorders, so the clinic resembles a hydropic inner ear disorder.

Case A 51-year-old woman was treated for over 20 years due to hearing loss and dizziness diagnosed as Menière's disease and since then lasting with the same symptoms. There were at least 5 inpatient admissions each year, including MRI and neurological consultations. She underwent gentamicin therapy and saccotomies on both sides. Because of still lasting symptoms other national ENT university clinics were asked for exchange. This consultation ended in a neurectomy of the vestibular nerve on both sides. However, nystagmus and other symptoms persisted. Followed by an ataxia and a tremor occurred.

Result Neurological co-evaluation excluded multiple sclerosis, a cerebrovascular event and epilepsy. Psychosomatic evaluation showed the diagnosis of a somatoform disorder. Due to persistent clinic and discrepant objective and subjective findings, a human genetic diagnosis was initiated. This revealed a mutation in the SCA13-associated KCNC3 gene. The diagnosis of SCA 13 was subsequently made.

Conclusion In case of an initially inconspicuous neurological clinic and the suspected Menière's disease, besides a psychogenic imbalance, SCA 13 can sometimes be the diagnosis. In the case of protracted complaints, human genetic diagnosis could thus contribute to the finding of the diagnosis.

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Publication History

Article published online:
07 August 2020