Bir Sendrom, Farklı Fenotipler; Fragile X Sendromu

Objective: The main findings in fragile X syndrome are varying degrees of mental retardation, a long, narrow face, a prominent forehead and chin, and large ears. The purpose of this study was to evaluate patient and family histories, clinical characteristics, laboratory findings, and close clinical follow-up of cases diagnosed with fragile X syndrome. Material and Methods: Clinical and physical examination characteristics and laboratory results of cases diagnosed with fragile X syndrome were evaluated retrospectively. Results: Five male patients aged 5-14 years were included in the study. Varying degrees of mental retardation and a coarse facial appearance were present in all cases. The most common presentation symptom in our polyclinic was mental retardation. Hyperactivity was present in two patients, self-harm behavior in one, and forgetfulness and enuresis in one. Neuromotor retardation was present in all patients, who were therefore receiving special education, while atypical autism was diagnosed in one case and a history of drug use due to attention deficit hyperactivity disorder (ADHD) was present in another. Blood count and biochemical parameters were with normal ranges. Cranial imaging was normal in two patients, while a moderate increase in subarachnoid space in the bilateral hippocampal areas was observed in Case 1, hypoplasia in the splenium and the posterior 1/3 of the body of the corpus callosum in Case 3, and hyperintensity on T2A/FLAIR in the posterior periventricular area in Case 4. No problems were encountered during 6-9 month follow-up. Two brothers of one case were also referred for special education following genetic counseling provided for the families. Conclusion: Increasing numbers of patients with undiagnosed mental retardation are presenting to pediatric general and side branch polyclinics. Fragile x syndrome is the first condition that should be considered in patients with a long/narrow face, a prominent forehead/jaw, large ears, macroorchidism, and mental retardation.