Javad Akhondian; Neda Fakhr Ghasemi
Abstract
Kleefstra syndrome is a genetic disorder that may involve different parts of the body, but its main characteristics are intellectual disability and childhood hypotonia. We report a 10-year-old mentally retarded male patient who presented with seizure. His medical history revealed recurrent upper respiratory ...
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Kleefstra syndrome is a genetic disorder that may involve different parts of the body, but its main characteristics are intellectual disability and childhood hypotonia. We report a 10-year-old mentally retarded male patient who presented with seizure. His medical history revealed recurrent upper respiratory infections, neurodevelopmental delay, and epilepsy. It was also found that he had had a hospitalization in the neonatal intensive care unit for five days due to tachypnea, low APGAR score, and meconium aspiration syndrome. His brain MRI had shown some degree of distension of the lateral cerebral ventricles with the basal cistern. The electromyography and the nerve conduction velocity were however normal. He was diagnosed with Kleefstra syndrome by the loss of the EHMT1 gene. He is now under treatment by piracetam and work-therapy. This is the second case report of this syndrome in Iran. This case presentation aims to improve the diagnosis of Kleefstra syndrome patients, as a rare syndrome with non-characteristic manifestations.
Farhad Heydarian; Neda Fakhr Ghasemi; Elham Bakhtiari; Hasan Golmakani; Mohammad Heidarian
Abstract
Introduction: Febrile seizure (FS) is a highly frequent presenting complaint in children. It is defined as a seizure that occurs in children between 6 to 60 months related to a fever of 38°C or more without any other explanatory causes of seizure such as evidence of central nervous system (CNS) infection ...
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Introduction: Febrile seizure (FS) is a highly frequent presenting complaint in children. It is defined as a seizure that occurs in children between 6 to 60 months related to a fever of 38°C or more without any other explanatory causes of seizure such as evidence of central nervous system (CNS) infection or a previous seizure without fever. The aim od study is to evaluate mean folic acid serum levels in febrile children with or without seizures.Methods: The mean folic acid serum levels and demographic data of 100 children aged 6 to 60 months, admitted to the Ghaem Hospital of Mashhad, Iran in 2018-2019, were collected, where the patients with febrile seizure were considered as the case group and the febrile ones without seizure as the control group. The inclusion criteria were children aged 6 to 60 months with febrile seizures who were admitted to the pediatric ward. The exclusion criteria were having a past medical history of seizure, meningitis, or encephalitis.Results: There were 49 febrile convulsive children (cases) and 51 febrile children without a seizure (controls). The mean serum folic acid level was 7.07 and 9.89 ng/ml for cases and controls respectively (P-value < 0.001).Conclusion: Children with febrile seizures had significantly lower serum folic acid levels than febrile children without a seizure.