To our knowledge this is the first case report of a patient with Tetrasomy X syndrome who has postural and intention tremors associated with bilateral lower extremity spasticity.

Tetrasomy X is a very rare chromosomal aneuploidy. Based on the limited number of published cases, there are some common neurodevelopmental phenotypes associated with this genetic abnormality like global delays in cognition and low muscle tone.  Most reports involved young to middle aged children, with limited information on patients in their 3^rd and 4^th decades of life.   

25 year old female with Tetrasomy X syndrome presented with gradual worsening of a bilateral postural and intention tremor that originally started at 20 years old. Denied any family history of any type of tremor. She had motor and cognitive delay and classic motor symptoms of low tone in the upper extremities and diminished reflexes. However, not consistent with the typical Tetrasomy X motor exam her bilateral lower extremities were spastic and her gait showed scissoring pattern. Mother reported this has been her gait pattern her entire life.

No data are available upon literature review about the presence of movement disorders in patients with Tetrasomy X Syndrome, or about analyzing the association between white matter disease and formal neurological evaluation. We suspect that the hyperintense white foci in our patient have attributed to her symptoms, especially her spasticity. There is a huge need for more case reports and studies describe neurological exam and MRI brain findings in child and adult patients with sex chromosomal disorders, particularly 48 XXXX anomaly, to further understand symptoms pathogenesis and long-term prognosis.