Chorea-acanthocytosis: A Case Report with Review of Oral Manifestations

Area of Science:

• Neurogenetics
• Cell Biology
• Hematology

Background:

• Chorea-acanthocytosis (ChAc) is a rare, autosomal recessive neurodegenerative disorder.
• It results from mutations in the VPS13A gene, impacting protein sorting and cell membrane stability.
• This leads to characteristic neurological symptoms and distinct red blood cell morphology (acanthocytes).

Observation:

• A 47-year-old male with a history of neurological issues presented with oral ulcerations.
• Clinical examination revealed chorea, dystonia, impaired gait, and elevated creatinine kinase.
• The patient exhibited frequent tongue and cheek biting, indicative of orofacial dystonia.

Findings:

• Molecular genetic testing confirmed a mutation in the VPS13A gene, diagnosing Chorea-acanthocytosis.
• The patient's physical presentation included involuntary movements (chorea, dystonia) and gait disturbances.
• Oral manifestations, specifically self-inflicted cheek and tongue trauma, were prominent features.

Implications:

• This case underscores the importance of recognizing oral manifestations in the diagnosis of ChAc.
• Understanding the link between VPS13A mutations and orofacial dystonia can improve patient management.
• Highlighting rare disease presentations aids in broader clinical awareness and diagnostic capabilities.