Case report of late-onset olivopontocerebellar atrophy

Abstract

Background. Olivopontocerebellar atrophy (OPCA) is a rare neurodegenerative disorder characterized by the continuously progressive course that combines the signs of cerebellar ataxia, parkinsonism, pyramidal syndrome, choreoathetosis, dementia, oculomotor dysfunction, affected peripheral nerves, and autonomic failure. Differential diagnosis is hampered by late onset of the disease in adulthood and older age, low prevalence in the population, non-specific nature, and slowly emerging symptoms. The paper investigates the clinical case of olivopontocerebellar atrophy that has been extremely difficult to verify. Aim. To attract attention of physicians of different specialties, primarily neurologists, psychiatrists, general practitioners, on the issue of rare neurodegenerative disorders, which are extremely difficult to verify in adulthood and older age. Methods. Medical history of female patient М., 68 years, who stayed at psychotherapy department. Assessment of the whole body, mental, and neurological status. Results. Considering the complaints of the patient and her relatives, the data of psychological and psychiatric assessment, neurological status, brain MRI, and no response to treatment with neurological and psychotherapeutic drugs, the following probable clinical diagnosis was established: “Congenital spinocerebellar ataxia of unspecified type (olivopontocerebellar atrophy)”. Conclusion. Early diagnosis of the OPCA clinical manifestations is extremely difficult, especially in elderly individuals, since the disorder occurs under the guise of age-related vascular changes in the brain matter and manifests itself in focal symptoms and mental function impairment. The history of the signs of prominent cognitive decline and multiple focal symptoms in the elderly patient, who is not excessive drinker and has no malignant hypertension or severe atherosclerosis, as well as any other background disease, requires exclusion of the disease vascular or degenerative origin. In the reported case, the combination of cerebellar ataxia and dementia constituted the core of clinical manifestations of the neurodegenerative process confirmed by brain imaging to exclude the conversion disorder.

Keywords

• olivopontocerebellar atrophy
• spinocerebellar ataxia
• parkinsonism
• cerebellar ataxia
• case report