Olivopontocerebellar Degeneration in a Young Adult Female: A Case Report of Early Onset and an Uncommon Course

Cureus. 2024 Sep 14;16(9):e69384. doi: 10.7759/cureus.69384. eCollection 2024 Sep.

Abstract

Olivopontocerebellar degeneration (OPCD) primarily affects individuals in their mid to late adulthood, making its early onset in young adults, particularly postpartum women, a notable rarity. This case report describes OPCD in a 24-year-old female, underscoring the importance of considering neurodegenerative disorders in differential diagnoses even in younger patients. The unique presentation post childbirth adds to the sparse literature on the timing and triggers of neurodegenerative diseases in younger populations, especially in scenarios that might involve hormonal, vascular, or autoimmune shifts such as those occurring postpartum. The patient, a young female, presented with progressive cerebellar symptoms, including gait ataxia, characterized by unsteady walking, dysarthria, manifesting as slurred speech, and an intentional tremor noticeable during precise movements. Further clinical findings included nystagmus, involuntary eye movement, and dysmetria demonstrated in the finger-to-nose test. These symptoms progressively worsened after her first childbirth, emphasizing the progressive nature of the disease. The MRI findings were pivotal in diagnosing OPCD, revealing extensive cerebellar and pontine atrophy, particularly affecting the anterior lobe. The radiological features included significant thinning of the cerebellar folia, increased prominence of cerebellar fissures, and dilatation of the fourth ventricle. Based on these findings, the differential diagnosis included various other cerebellar ataxias, but the specific pattern of degeneration observed was indicative of OPCD. Therapeutically, the patient was managed with supportive physiotherapy and oral methylcobalamin supplementation aimed at slowing progression and alleviating symptoms. The outcome, while not curative, focuses on symptom management and improving quality of life. This case highlights the critical role of magnetic resonance imaging (MRI) in the early detection and diagnosis of OPCD, particularly in atypical patient populations such as young adults. It serves as a reminder to the medical community about the variability of presentation in neurodegenerative disorders and the need for vigilance in younger patients presenting with progressive neurological symptoms. Further, it emphasizes the importance of considering a comprehensive diagnostic approach, including detailed imaging studies when young patients present with atypical symptoms, to ensure accurate diagnosis and appropriate management.

Keywords: cerebellar atrophy; early-onset neurodegenerative disorder; magnetic resonance imaging (mri); olivopontocerebellar degeneration (opcd); pontine atrophy.

Publication types

  • Case Reports