Olcay Güngör

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Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high(More)
OBJECTIVE Sudden death has been reported in asymptomatic obese adults and the mechanism is unclear. In recent years, obesity has shown a dramatic increase in children and this enhances the risk factors for the development of cardiovascular disease. The aim of this study was to investigate whether there is repolarization abnormality and any potential risk(More)
Succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2)-related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP-using isoform of the beta subunit in succinyl-CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a(More)
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular(More)
Unilateral isolated paralysis of the soft palate is a rare clinical entity that is associated with rhinolalia and the flow of nasal fluids from the nostril on the affected side. We report a case of a 17-year-old boy admitted complaining of nasal speech and drinks flowing into his right nostril. Most cases of soft palate palsy are idiopathic, whereas a few(More)
Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large(More)
Molluscum contagiosum is an infectious disease presenting with flesh-colored, dome-shaped, umblicated papules. A few atypical presentations have been reported in immunodeficient patients. A 5-year-old boy with acute lymphoblastic leukemia, presented with bright white-colored papular lesions with no umblications on the chin during his continuation(More)
A 15-month-old male infant was admitted to our clinic due to complaints of hyperirritability that had persisted since he was 6 months old. The infant exhibited axial hypotonia, visual fixation, and tracking, as well as very limited spontaneous movements, and no head control. Tendon reflexes were to elicit. The patient was unable to exhibit head control(More)
Headache is one of the common symptoms of intracranial aneursym. A 5-year-old child lately presented to our pediatric emergency department with persistent headache. Brain magnetic resonance imaging revealed a 7×8 mm rounded lesion with slowly heterogeneous low signal in T2 sequence consistent with a partial occluded aneurysm, in the right medial frontal(More)