l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report

Area of Science:

• Genetics
• Neurology
• Endocrinology

Background:

• Benign hereditary chorea (BHC) is a rare autosomal dominant disorder.
• Characterized by early-onset chorea, congenital hypothyroidism, and respiratory distress.
• Current treatments for chorea and drop attacks are not standardized.

Observation:

• A childhood case of BHC presented with l-thyroxine-responsive drop attacks.
• Genetic analysis revealed an interstitial deletion impacting NKX2-1 enhancer regions.
• This provided genetic confirmation of BHC.

Findings:

• Established a connection between thyroid function and drop attacks in BHC.
• Identified l-thyroxine as a potential therapeutic option for managing drop attacks.
• The deletion impacted enhancer regions of the NKX2-1 gene.

Implications:

• Suggests l-thyroxine as a novel treatment for drop attacks in BHC.
• Highlights the role of thyroid function in BHC pathogenesis.
• Provides genetic confirmation for BHC diagnosis.