Wos İndeksli Açık & Kapalı Erişimli Yayınlar
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Item Plasma Exchange in the Treatment of A Child with West Nile Virus Encephalitis: A Case Report(2022) Ozkale, Yasemin; Ozkale, Murat; Ceylan, Ozgur; Erol, IlknurBackground: West Nile virus (WNV) is a member of the Japanese encephalitis antigenic complex of the family Flaviviridae that can cause a wide range of clinical symptoms, from asymptomatic disease to severe meningitis, encephalitis flaccid paralysis, and death. In immunocompetent children, WNV infection is usually benign and self-limiting. However, this virus is also associated with severe neurological disease in some patients, especially those who are older, have a chronic disease, have undergone organ transplantation, or are immunocompromised. Case Report: A 12-year-old boy with selective immunoglobulin A-deficiency (SIgAD) and refractory seizures due to WNV encephalitis (WNE) was successfully treated with therapeutic plasma exchange (TPE) in conjunction with other immunomodulatory therapies. Conclusion: WNV can progress like autoimmune encephalitis. TPE appears to be safe and effective for treating children with WNE. To our knowledge, this report is the first of a child with WNV infection and SIgAD.Item Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect(2019) Yalnizoglu, Dilek; Ozgul, R. Koksal; Oguz, Kader K.; Ozer, Bugra; Yucel-Yilmaz, Didem; Gurbuz, Berrak; Serdaroglu, Esra; Erol, Ilknur; Topcu, Meral; Dursun, Ali; 30701556MBOAT7 gene codes O-acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7 families with MBOAT7 gene defect, a recently defined novel phospholipid remodelling disease. To the best of our knowledge, our case series is the second report on patients with MBOAT7 gene defect. The patients present with global developmental delay particularly in speech and language skills, intellectual disability, stereotypical behavior, ataxic gait, early onset epilepsy with well response to medical treatment, strabismus and similar facial features. Common neuroimaging findings of the patients were folium dysgenesis of the cerebellum with a particular appearance, mild-to-moderate cerebellar atrophy, T2 hyperintensity of bilateral globus pallidius and dentate nuclei, enlarged perivascular areas, and mild thinning of the corpus callosum. Genome-wide genotyping and exome sequencing identified five different types of homozygous mutations in the MBOAT7 gene in all seven families which are p.Arg87*, p.Leu227ProfsX65, p.Gln376Lys, p.Trp426*, and chr19:54.666.173-54.677.766/11594bp del. We conclude that clinical and neuroimaging findings of MBOAT7 gene defect may suggest the diagnosis and guide genetic tests.Item A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism(2019) Aydin, Halil Ibrahim; Sonmez, Fatma Mujgan; 0000-0001-7994-4394; 31559727Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental retardation, seizures, behavioral problems, and autism that began during early infancy. The patients were diagnosed as having only autism and followed for years without a specific diagnosis although they had very low levels of serum creatinine for several times. A novel nonsense mutation in the GAMT gene that caused cessation of synthesis of the protein encoded by this gene was identified in these patients. GAMT deficiency is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, seizures and autism, particularly if low serum creatinine levels are observed.