Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.

Background: Triple X syndrome is a chromosomal disorder that results from nondisjunction during meiosis. Is considered a rare condition, affecting approximately 160,000 females in the United States are affected. Mosaic forms of the syndrome can be present, implying that different degrees of severity can occur. Triple X syndrome is typically associated with several features e.g small head, tall stature, delayed developmental milestones, premature ovarian failure, psychiatric disorders, epilepsy and EEG abnormalities are included. To date, tremors have not been described as part of Triple X syndrome. This is in contrast to other chromosomal abnormalities such as XXY and XYY trisomies, XXYY syndrome and X fragile permutation that have been associated with action tremors.

Methods: Case report: The patient is 51-year woman, born full term with normal early cognitive milestones. However, she required help while enrolled in regular classes. The patient graduated from high school and worked in industrial occupations. She had generalized tonic clonic seizures, with onset at the age of 14 years but has been seizure free since 1998. At 24 years of age she started to experience hand postural and kinetic tremors, severe enough to interfere with drinking, eating and writing. On examination, severe action and postural hand tremors were evident with right side predominance. They were accentuated with handwriting, pouring, finger to nose and finger to finger tests. Gait was slightly wide based, with normal postural response. The combination of cognitive dysfunction, epilepsy and tremor, prompted to genetic testing revealing 47 XXX karyotype.

Results: Discussion: This is the first case of a patient with triple X syndrome described to have action tremors in the presentation. Given the high association of tremors in similar chromosomal abnormalities, we are surprised that this association has not previously been described.

Conclusions: We encourage vigilance of tremors in the presence of characteristic features of Triple X. Tremor might be part of Triple X phenotype.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/triple-x-syndrome-are-tremors-part-of-its-phenotype/