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.
Mehran Beiraghi Toosi; Farnoosh Ebrahimzadeh
Abstract
A seizure is defined as a paroxysmal and transient occurrence of signs or symptoms resulting from abnormal synchronous or excessive neuronal activity in the brain. About 15 to 40 percent of children who have any type of seizure are resistant to standard anti-seizure drugs, so called intractable epilepsy. ...
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A seizure is defined as a paroxysmal and transient occurrence of signs or symptoms resulting from abnormal synchronous or excessive neuronal activity in the brain. About 15 to 40 percent of children who have any type of seizure are resistant to standard anti-seizure drugs, so called intractable epilepsy. Before documenting the seizure attacks as refractory, the selected drugs using for the type of seizure and dose of them should be checked. There are several factors that predict development of refractory seizures. These include age <1 year, multiple seizures before starting the treatment, myoclonic seizures, neurologic defects, neonatal and daily seizures, male gender, and first abnormal electroencephalogram and brain imaging (including computerized tomography scan and / or MRI). Options for the management of refractory epilepsy, after prescribing routine anti-seizure drugs are: Second line drugs (IVIG treatment, Ketogenic diet, Prednisolone treatment or Herbal treatment), Surgery and Stem cell therapy. Because none of these methods can stop all the drug-resistant epilepsies, researches are going on.