Browsing by Author "Borkovic, Milan (57038959700)"

Introduction: In 1962, Renpenning et al. published an article with 20 male patients from three generations with mental retar-dation. Scientists suggested that the syndrome with mutation mapped to the locus Xp11.2-p11.4 should be called Renpenning syn-drome. The deletion/duplication of an AG dinucleotide on proximal Xp in the polyglutamine tract-binding protein 1 (PQBP1) gene causing frameshift in the fourth coding exon was identified as the most frequent mutation in this syndrome. Renpenning syndrome with asymmetric cerebellar hemispheres has not been reported previously. Case Presentation: In this case report, we presented an 11-year-old male with mild developmental delay and mild intellectual dis-ability, microcephaly, dysmorphic face, short stature, and seizures. The following morphological abnormalities were detected: a wide nasal bridge, midfacial hypoplasia, short philtrum, low-set ears, low hanging columella, high palate, and narrow face. Neurological examination showed upper and lower extremities hypotonia with joint hypermobility. The patient had his first seizure at the age of seven, and he experienced a total of 10 seizures by the age 11. A systolic murmur of intensity 2/6 was present, and echocardiog-raphy showed chordae tendineae abnormalities in the left ventricle. Brain magnetic resonance imaging (MRI) showed asymmetric cerebellar hemispheres (mild right cerebellar hemisphere hypoplasia). A frameshift mutation in the polar reach domain (PRD) of the PQBP1 gene (c.459-462 delAGAG) was detected by exome sequencing. Conclusions: We showed the first case of genetically confirmed Renpenning syndrome in Serbia. Our patient had classical clinical manifestations for Renpenning syndrome as a consequence of frameshift mutation in the PRD of the PQBP1 gene. To the best of our knowledge, according to the literature, this is the first patient with Renpenning syndrome with asymmetric cerebellar hemispheres (mild right cerebellar hemisphere hypoplasia). © 2021, Author(s).

Introduction. Ring chromosome 20 [r(20)] syndrome is a rare genetic abnormality where two arms of the 20th chromosome fuse forming a ring chromosome, resulting in intractable epilepsy and wide range of behavioral problems and cognitive deficits. Case report. We presented four patients with r (20) syndrome diagnosed between the years 2000-2018. In all patients we analyzed clinical epilepsy features (seizure semiology, seizure frequency/drug response, the presence of nonconvulsive status epilepticus), cognitive status and the phenotype characteristics. The average age of epilepsy onset was 6 years. All four patients had nocturnal epileptic events and normal brain magnetic resonance (MR) imaging. Dysmorphism was present in two children, behavioral problems also in two children and intellectual disabilities were observed in three children. R(20) syndrome mosaicism ranged between 17% and 83% of blood lymphocytes. Conclusion. Despite the small size of our group, we think that our findings have clinical relevance. Refractory childhood onset epilepsy and especially the occurrence of nocturnal epileptic events should help physicians to recognize this chromosomopathy. Routine karyotyping can be employed to identify the patients easily. © 2022 Inst. Sci. inf., Univ. Defence in Belgrade. All rights reserved.