Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed

Permanent URI for this communityhttps://hdl.handle.net/11727/4806

Browse

Filters

2020 - 20222

Settings

Author: search.filters.author.Aydin, Halil Ibrahimsearch.filters.applied.f.rights: search.filters.rights.info:eu-repo/semantics/closedAccess

Search Results

Now showing 1 - 2 of 2
  • No Thumbnail Available
    Item
    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.
  • No Thumbnail Available
    Item
    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.