Abstract Details

Title A case of Klienfelter Syndrome With Chromosome 3 Anomaly presenting with Linguo-Palato-Perioral Tremor

Topic Movement Disorders

Presentation(s) P15 - Poster Session 15 (12:00 PM-1:00 PM)

Poster/Presentation
Number 3-008

Objective To describe a patient with Klinefelter syndrome (KS) presenting uniquely with linguo-palato-perioral tremor pattern, in the setting of an abnormal area of homozygosity (AOH) on chromosome 3p.

Background

Essential Tremor (ET) or an ET-like syndrome has been reported in Klienfelter Syndrome. The pathophysiology of this tremor is unclear. We describe a KS patient with linguo-palato-perioral tremor involvement, in the setting of chromosomal 3p 'area of homozygosity' abnormality. We are unaware of a similar topographic distribution, as presentation of tremor in Klienfelter Syndrome.

Design/Methods Case report and review of literature.

Results A 53-year old gentleman presented to the clinic reporting childhood-onset tremors, mainly involving his upper extremities, aggravated by stress and weight resistance. His tremor gradually progressed causing him social challenges and trouble with swallowing. He denied family history of tremor, thyroid disease or alcoholism. On examination; he was noted to have mild intellectual disability, elongated facies, features of hypogonadism, a 6-8 Hz frequency tremor involving his palate, tongue and perioral region, along with postural and kinetic tremor of his hands. He had no rigidity, bradykinesia or postural instability. Laboratory workup was notable for iron-deficiency anemia. A genetic assessment was positive for 47, XXY trisomy, with 9.05 megabase 'area of homozygosity' on chromosome 3p (-3p26. 1p-24.3 [7,511,133-16,558,776]). His electrodiagnostic studies of extremities were normal. MRI brain showed mild non-specific T2 hyperintense white matter changes in the sub-cortical regions. Trial with propranolol provided only minimal benefit and he subsequently declined further management on followup.

Conclusions Linguo-palato-perioral tremor in KS has not been previously reported. It is possible that a mutated gene in the region of homozygosity had an influence on our patient’s tremor phenotype. Our report highlights the need to maintain a high index of suspicion among clinicians on non-stereotypical appearances of KS tremor, which could indeed be part of the patient’s index presentation.

Authors/Disclosures
Sajish Jacob, MBBS (Lone star Neurology) PRESENTER	No disclosure on file
Rahul V. Sonone, MD (Neurology Clinic, P.C.)	No disclosure on file

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Abstract Details