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    CLP1 associated pontocerebellar hypoplasia
    (2021) Kaya Ozcora, Gul Demet; Aktas, Dilek; Kumandas, Sefer
    Pontocerebellar hypoplasia (PCH) is a group of hereditary neurodegenerative diseases characterized by the developmental pathology of infra tentorial brain structures such as cerebellum and pons. In recent years, many new PCH cases have been identified due to the evolution and easily accessible of genetic analysis such as next-generation sequencing. We described a family were referred to our clinic because of epilepsy and MMR in two brothers with dysmorphic features: Physical examination revealed dysmorphic features such as; forehead sloping, hypertelorism, hypertrichosis, indistinct philtrum, cupped right ear, anteverted nares, oligodontia, high-arched palate, short neck, low posterior hairline, pes equinovarus, microcephaly (45cm, <1p (-4.7 SD)).Neurological examination showed evident dystonia in the extremities, increased deep tendon reflexes, spastic tetraparesis. Cranial MRI revealed pontocerebellar hypoplasia . Whole-exome sequence (WES) of two affected brothers revealed a homozygous p.R140H (c.G419A) (chr11:g.57,427,367 G > A [hg19], NM_006831.2) pathogenic variant in the CLP1 gene which were described in 2014 in patients with similar clinical features. In patients with pontocerebellar hypoplasia in MRI, if other causes in the differential diagnosis are ruled out except types and subtypes of PCH and MRI does not show dragon-fly like pattern CLP1 gene can be sequenced first before whole exome or genome sequencing in patients with Asian origin which is much more cheaper and faster.
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    Inherited metabolic disorders among Turkish children with intellectual disability: A single-center experience
    (2021) Bektas, Gonca; Ersoy Olbak, Melike; Uyanik, Bulent; Kaya Ozcora, Gul Demet
    Aim: We aimed to determine the frequency of inherited metabolic disorders (IMD) among Turkish children with intellectual disability using laboratory tests for IMD.Materials and Methods: Children older than 5 years of age with intellectual disability admitted to the Pediatric Neurology Outpatient Clinic for any neurological symptom between July 1, 2018, and December 31, 2018 were analyzed. Children with intellectual disability of unknown etiology at admission were included in the study. Complete blood count, serum biochemical analysis, thyroid function tests, serum ammonia, lactate, homocysteine, biotinidase activity, serum amino acids, acylcarnitine profile, and urine organic acid analysis results were evaluated.Results: A total of 163 patients (108 boys) were included in the study. The female to male ratio was 1: 2. The ages of the patients were between 5 and 17 years and the mean age was 9.4 ± 3.6 years. Four patients were diagnosed with IMD. Two of them had mitochondrial disease, 1 of them had isovaleric acidemia, and 1 of them had 3-Methylcrotonyl-CoA carboxylase deficiency. The accompanying symptoms of intellectual disability were psychiatric symptoms, dysarthria, ataxia, tremor and seizure in children diagnosed with IMD. We found that the percentage of IMD was 2.5% among Turkish children with intellectual disability.Conclusion: In our study, all IMDs identified in children with intellectual disability were treatable. That result emphasizes the significance of evaluating children for inherited metabolic disorders among children with intellectual disability.