Postural tremor and sexual chromosome aneuploidies: case report and review of literature

Abstract

Purpose

To examine the link between tremor and sex chromosome abnormalities, emphasizing the necessity of comprehensive physical examination.

Case Description

An 18-year-old man exhibited an isolated action tremor in both hands. Despite having no familial history of tremors and no identifiable secondary causes, his tall stature and learning difficulties suggested a genetic origin. His karyotype confirmed the diagnosis of Jacob’s syndrome (XYY syndrome). Therapies with primidone and propranolol were ineffective for his tremor.

Conclusions

Tremor can be caused by various conditions, and aneuploidies might often be overlooked as a cause. They should be considered in young patients with concrete phenotypes and negative familiar history of tremors. Karyotyping is a cost-effective diagnostic tool crucial for genetic counselling. Common treatments for tremors often yield unsatisfactory results in these cases.

Keywords:

• Tremor
• XYY
• klinefelter syndrome
• XXY
• aneuploidy

Disclosure statement

The authors report there are no competing interests to declare.

Additional information

Funding

This work was not supported by any institution or agency.