Tremor-Dominant Movement Disorder in Associated KBG Syndrome.

BACKGROUND

KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in . A recent single-case study suggested that the clinical spectrum of KBG syndrome, classically defined by distinctive craniofacial traits and developmental delay, may include movement disorders.

CASE REPORT

We report a 24-year-old patient harboring a pathogenic frameshift variant. The phenotype was dominated by a progressive tremor-dominant movement disorder, characterized by rest, intention and postural tremor of the hands, voice tremor, head and tongue tremor, increased muscle tone and signs of ataxia. Additionally, the patient had a history of mild developmental delay and epilepsy.

DISCUSSION

Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome. pathogenic variants should be considered in the differential diagnosis of combined tremor syndromes.