Serap Bilge*, Gülen Gül Mert, Neslihan Özcan, Duygu Özcanyüz, M Özlem Hergüner, Faruk İncecik and Şakir Altunbaşak
Department of Pediatric Neurology, College of Medicine, Çukurova University, Turkey
*Corresponding Author: Serap Bilge, Department of Pediatric Neurology, College of Medicine, Çukurova University, Turkey.
Received: June 29, 2020; Published: August 25, 2020
Introduction: Tetrasomy X is an extremely rare condition that affects only women. This syndrome was described first in 1961 and about 50 cases were reported then.
Aim: In this article, we aimed to present a 15-year-old female patient who presented with seizure and self-harm behaviours and diagnosed as tetrasomy X.
Case Report: A 15-year-old female patient without perinatal problems was brought to our clinic with the complaint of seizure and self-harm behaviours. She was a full-term third-born of a 31-year-old mother and a 34-year-old father, there was no kinship between the parents. She had history of febrile seizures at 3 months of age and had mental motor developmental delay. At 7 months of age, epilepsy was diagnosed and treatment was initiated. She was still being followed up by pediatric psychiatry clinic because of her self-injurious behavior. On physical examination, she was conscious and mentally retarded. There were dysmorphic findings on the face. Cranial nerve, motor, cerebellar and sensory examinations were normal. The patient, whose hearing was normal, started newly to form sentence while speaking. She had hyperactive movement pattern and aimless movements in the hands. Metabolic screening and cerebral MRI were normal. EEG showed generalized epileptiform discharges. Standford-Binet test showed severe mental retardation.
Results: Tetrasomy X is caused by inadequate separation of chromosomes during meiosis. Clinical manifestations may range from mild to severe. Delay in speech, learning disabilities, growth retardation and dysmorphic facial appearance are frequently observed. Behavioral disorder can be as severe as much as mild. Panic attacks, manic depression, bipolar disorder can be seen. However, these problems can be controlled with medication. Other anomalies such as tooth anomalies, heart defects, joint laxity, radio-ulnar synocytosis, hip joint dysplasia, renal anomalies and ovarian dysfunction may also be seen. In addition, increased sensitivity to infections in childhood is reported. Therefore, if a tall female patient approaches due to behaviour disorder and epilepsy, tetrasomy X should be considered.
Keywords: Dysmorphic Findings; Mental Retardation; Epilepsy; Tetrasomy X
Citation: Serap Bilge., et al. “Tetrasomy X, a Rare Cause of Epilepsy and Behavior Disorder".Acta Scientific Neurology 3.9 (2020): 56-58.
Copyright: © 2020 Serap Bilge., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.