Bita Barazandeh Shirvan; Javad Akhondian; Parvaneh Layegh; Narges Hashemi; Ehsan Ghayoor Karimiani; Razie Rezaie; Paria Najarzadeh Torbati; mehran beiraghi toosi
Abstract
Objective: Ataxia telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder caused by mutations in the MRE11 gene. The diagnosis of patients with Ataxia telangiectasia-like disorder and Ataxia telangiectasia may be challenging due to similar clinical manifestations. In the present study, ...
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Objective: Ataxia telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder caused by mutations in the MRE11 gene. The diagnosis of patients with Ataxia telangiectasia-like disorder and Ataxia telangiectasia may be challenging due to similar clinical manifestations. In the present study, we describe a patient with a homozygous variant of uncertain significance (VUS) in the MRE11 gene that was correlated clinically with ATLD. Methods: We performed a brain MRI scan to find the cause of the patient's ataxia. After ventriculoperitoneal shunting due to obstructive hydrocephalus, there was no clinical change; so, we carried out whole exome sequencing. Additionally, Variants were classified using several databases and predicted according to the ACMG 2015 guidelines. Results: A 2-year-6-month-old boy with ataxia, tonic seizure, and speech delay was found during studies. The WES and in silico analysis identified a homozygous variant of uncertain significance (VUS) in the MRE11 NM_005591.4 (MRE 11): c.173 G>T (p. GIv58Val).Conclusion: This case report highlights that genetic testing can be useful for the precise diagnosis when clinical manifestations are not associated with MRI results. Furthermore, we could categorize a variant in the MRE11 gene from VUS to likely pathogenic based on clinical features.
Fargol Nabavi; Javad Akhondian; Sepideh Karkon Shayan; Sepideh Babaniamansour; Raheleh ِDerafshi
Abstract
Introduction: A febrile seizure (FS) occurs in 2-4% of children aged 6 months to 5 years. A simple febrile seizure is the most common seizure in children. According to the evidence, both genetic and environmental factors affect the occurrence of this condition. The purpose of this study was to determine ...
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Introduction: A febrile seizure (FS) occurs in 2-4% of children aged 6 months to 5 years. A simple febrile seizure is the most common seizure in children. According to the evidence, both genetic and environmental factors affect the occurrence of this condition. The purpose of this study was to determine the association between zinc deficiency and sociological factors, and febrile seizures. Methods: This case-control study evaluated 136 children at 22 Bahman Hospital of Gonabad, Iran, from July 2015 to March 2018. We selected 36 children aged 6 months to 5 years with febrile seizures as the case group and 100 febrile children without a seizure, in the same age range, as the control group. The demographic characteristics, place of residence, family history of seizures, and zinc serum level were recorded, and data were analyzed by frequency, average, and standard deviation, and Chi-square statistical tests. The odds ratios were calculated by logistic regression with a 95% confidence level. SPSS version 22.0 was used for statistical analysis. Results: Totally, 38.8% of the cases with FS and 5.0% of the febrile children without seizure had a zinc deficiency. The serum zinc level in the case group was 75.44 ± 16.98 µgr/dL and in the control group was 100.27 ± 24.23 µgr/dL (P < 0.001). The odds ratio of zinc deficiency in the patients with FS compared to the febrile children without convulsion was 1.069 (1.045-1.151). Conclusion: Children with FS are more susceptible to have zinc deficiency than those febrile but without a seizure. Therefore, zinc deficiency could be a preventable and treatable risk factor for FS.
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.