Case Report
Volume 13 Issue 10 - 2021
A Case Report of Fragile X Premutation with Unusual Presentation
Alexander Biart Vega1* and Ketty Sánchez Cárdenas2*
1"Comandante Manuel Piti Fajardo” Hospital, Mayabeque, Cuba
2"Arnaldo Milián Castro” Hospital, Villa Clara, Cuba
*Corresponding Author: Alexander Biart Vega, "Comandante Manuel Piti Fajardo” Hospital, Mayabeque, Cuba.
Received: August 05, 2021; Published: September 14, 2021


Objective: To report the unusual onset of fragile X-associated tremor/ataxia syndrome in a patient.

Clinical Case Report: A sixty-five-years old male patient with a history of progressive spastic paraparesis developed one-year later intention tremor and cerebellar ataxia. This neurological clinical status plus his daughter history of possible primary ovarian insufficiency and the discovery of bilateral and symmetrical high intensity signals in the cerebellar white matter at the base of middle cerebellar peduncles in cerebral magnetic resonance imaging guided to the diagnosis of fragile X-associated tremor/ataxia syndrome. This diagnosis was confirmed by genetic testing.

Conclusion: Fragile X-associated tremor/ataxia syndrome has a wide spectrum of neurological features, and spastic paraparesis may not only be one of them but also its initial manifestation like part of an unusual presentation. This case report shows the broad range of manifestations that has a disease like FXTAS, reason for what this disorder should be considered not only in the etiological diagnosis of a chronic cerebellar syndrome but also in others clinical pictures like a chronic spastic paraparesis.

Keywords: Tremor; Ataxia; Spastic Paraparesis; Fragile X


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Citation: Alexander Biart Vega and Ketty Sánchez Cárdenas. “A Case Report of Fragile X Premutation with Unusual Presentation”. EC Neurology 13.10 (2021): 39-46.

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