Tıp Fakültesi / Faculty of Medicine

Permanent URI for this collectionhttps://hdl.handle.net/11727/1403

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2017 - 201912020 - 20224

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Author: search.filters.author.Aydin, Halil IbrahimHas files: No

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    Chronic Enteropathy Associated with SLCO2A1 Gene and Hereditary Fructose Intolerance: A Coincidence of Two Rare Diseases
    (2022) Donger, Utku; Warasnhe, Khaled; Ozcay, Figen; Haskologlu, Zehra Sule; Aydin, Halil Ibrahim; Ceylaner, Serdar; https://orcid.org/0000-0002-5214-516X; https://orcid.org/0000-0001-7994-4394; 36384942; ABG-5684-2020; AHD-1839-2022
    Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare disorder characterized by multiple small intestine ulcers. Patients with CEAS typically present with chronic anemia and gastrointestinal bleeding. Besides CEAS, SLCO2A1 mutations cause primary hypertrophic osteoarthropathy (PHO) which is considered as an extraintestinal manifestation in CEAS patients. Since CEAS and Crohn's disease are clinically indistinguishable, patients are often misdiagnosed with Crohn's disease. Herein, we describe a 4-year-old Turkish girl with CEAS due to homozygous pathogenic variant (c.656C > T) in SLCO2A1 with concomitant hereditary fructose intolerance (HFI) caused by homozygous pathogenic variant (c.1005C > G) in ALDOB. Prompt restriction of fructose, sucrose and sorbitol resulted in hepatomegaly regression and mild amelioration of patient's symptoms. Despite budesonide and azathioprine treatments, patient's protein losing enteropathy and chronic anemia did not improve. Although previous CEAS cases were reported from East Asian countries, it is likely to occur in people from other geographic areas. CEAS seems to be underdiagnosed and high index of suspicion is required for the diagnosis of this rare entity. Patients with prior diagnosis of Crohn's disease with no response to immunosuppressive treatment or anti-TNF therapy should be re-evaluated for possible CEAS diagnosis.
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    Pediatric Liver Transplantation Indications and Outcomes in Glycogen Storage Disease: A Single Center Experience
    (2022) Ozcay, Figen; Kar, Hazel Delal Dara; Warasnhe, Khaled; Aydin, Halil Ibrahim; Akdur, Aydincan; Haberal, Mehmet; 0000-0002-5214-516X; 0000-0002-3462-7632; 0000-0001-7994-4394; ABG-5684-2020; AAJ-8097-2021; AHD-1839-2022
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    Genetic Studies in Autism: Correspondence
    (2017) Aydin, Halil Ibrahim; 0000-0001-7994-4394; 27506425; AHD-1839-2022
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    A novel mutation in TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblings
    (2022) Warasnhe, Khaled; Ozcay, Figen; Aydin, Halil Ibrahim; Ozgun, Gonca; Ceylaner, Serdar; https://orcid.org/0000-0002-0781-5814; 35460901
    Non-cirrhotic portal hypertension (NCPH) is a rare clinical entity in children. Familial clusters of idiopathic non-cirrhotic portal hypertension (INCPH) were previously reported in cases with deoxyguanosine kinase (DGOUK) and potassium calcium-activated channel subfamily N member 3 (KCNN3) mutations. Herein, we report two siblings who had a novel mutation in mitochondrial tRNA methyltransferase 5 (TRMT5) gene and presented with hepatopulmonary syndrome and later diagnosed as INCPH. Autosomal recessive inheritance of this mutation may suggest a role of TRMT5 mutations in the development of NCPH. Screening of TRMT5 mutations could be considered when familial INCPH is suspected. ?? 2022 Elsevier Masson SAS. All rights reserved.
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    Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation
    (2020) Ayanoglu, Muge; Korgali, Elif; Sezer, Taner; Aydin, Halil Ibrahim; Sonmez, Fatma Mujgan; 0000-0002-2278-1827; 0000-0001-7994-4394; 32173091; AAJ-5931-2021
    We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The patient presented with lethargy, hyperthermia, generalized tremor and rigidity with normal serum CK levels. After cessation of risperidone and adding clonezepam to the supportive treatment, symptoms of NMS were ameliorated. We conclude that although serum CK elevation is a useful indicator for the early detection of NMS, normal serum CK levels may be seen during the NMS course in the presence of GAMT deficiency. (C) 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.