Author/Authors :
Koohmanaee, Shahin Pediatric Diseases Research Center - Faculty of Medicine - Guilan University of Medical Sciences, Rasht , Kharaee, Fatemeh Pediatric Diseases Research Center - Faculty of Medicine - Guilan University of Medical Sciences, Rasht , Bayat, Reza Pediatric Diseases Research Center - Faculty of Medicine - Guilan University of Medical Sciences, Rasht , Shahrokhi, Maryam Department of Clinical Pharmacy - Faculty of Pharmacy - Guilan University of Medical Sciences, Rasht , Hassanzadeh Rad, Afagh Pediatric Diseases Research Center - Faculty of Medicine - Guilan University of Medical Sciences, Rasht , Najafi Chakoosari, Saber Faculty of Medicine - Guilan University of Medical Sciences, Rasht , Dalili, Setila Pediatric Diseases Research Center - Faculty of Medicine - Guilan University of Medical Sciences, Rasht , Karambin, Mahsa Pediatric Diseases Research Center - Faculty of Medicine - Guilan University of Medical Sciences, Rasht
Abstract :
Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults.
Case Presentation: An 11 months old boy was referred to the hospital due to clinical presentations of productive cough seizure, mental disability, and ataxia. Magnetic Resonance Imaging (MRI), Electroencephalography (EEG), hematology, biochemistry, hormone, and genetic tests were done. Triplet repeat PCR (TP PCR) showed 99 CGG repeats as permutation alleles.
Conclusion: In this study, the authors reported the early onset of FXTAS in an 11 months old boy for the first time
