Iranian Journal of Child Neurology最新文献

{"title":"Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights from a Third-Level Pediatric Emergency Room.","authors":"Sareh Hosseinpour, Roxana Pazouki, Mahmoud Reza Ashrafi, Maryam Bemanalizadeh, Masood Ghahvechi Akbari, Sanaz Rezaei, Nima Parvaneh, Morteza Heidari, Mohammad Vafaee-Shahi, Firouzeh Hosseini, Sayna Bagheri, Ali Reza Tavasoli","doi":"10.22037/ijcn.v18i4.43749","DOIUrl":"10.22037/ijcn.v18i4.43749","url":null,"abstract":"<p><strong>Objectives: </strong>Acute Flaccid Paralysis (AFP) in children can stem from a diverse array of potential diagnoses.</p><p><strong>Materials & methods: </strong>This retrospective study sought to diagnose children referred to a referral pediatric emergency unit with AFP between 2011 and 2016. The study gathered clinical observations, conducted stool and cerebrospinal fluid analyses, and assessed electrophysiological and imaging data.</p><p><strong>Results: </strong>The present study enrolled 118 fully immunized children with a mean age of 6.09 ± 3.60 years. The most prevalent diagnoses included Guillain-Barré Syndrome (GBS-80 cases), acute viral myositis (20 cases), Transverse Myelitis Syndrome (TMS) (TMS-6 cases), and Vaccine-Associated Paralytic Poliomyelitis (VAPP) (VAPP-6 cases). All these six patients had primary immunodeficiency. Notably, all patients tested negative for poliovirus in stool analyses. This study encountered a unique case of a 2.5-month-old male patient who presented with acute limb motor weakness, along with fever, irritability, new-onset hypotonia, and generalized decreased deep tendon reflexes. Notably, no signs of upper motor neuron involvement were found. The Cerebrospinal Fluid (CSF) analysis was compatible with the diagnosis of viral meningitis. Moreover, among the 60 brain and spinal imaging series performed, five were indicative of GBS, six cases showed evidence of TMS, and one revealed a spinal mass. Besides, clinical investigations pointed toward acute viral myositis as a secondary etiology of AFP in 20 patients in this study.</p><p><strong>Conclusion: </strong>In this hospital-based study, the most frequent diagnoses for children arriving at a third-level pediatric Emergency Room (ER) with acute flaccid paralysis AFP were GBS, acute viral myositis, TMS, and VAPP). These findings suggest a distinct pattern of AFP causes compared to those found in community-based epidemiological studies. Additionally, notably, unusual conditions, such as viral meningitis, can rarely present with AFP-like symptoms. Assessment for primary immune deficiency should be considered in cases of VAPP. Lastly, this research has implemented a pediatric AFP Management Protocol: A Local Practical Approach.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 4","pages":"33-45"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Presumed Fourth Nerve Palsy in a Healthy and Asymptomatic Child with COVID-19 Infection.","authors":"Mohammad Yaser Kiarudi, Mohammad Sharifi, Ahmad Gharouni, Tayebe Shiravi","doi":"10.22037/v18i3.42705","DOIUrl":"10.22037/v18i3.42705","url":null,"abstract":"<p><p>COVID-19 can cause a wide range of ocular manifestations. The most common ocular manifestation is conjunctivitis. Neuro-ophthalmic presentations of COVID-19 are rare. Case reports suggest that COVID-19 infection can cause cranial nerve palsy, including nerves that regulate ocular movements. The present studypresented a case of fourth nerve palsy in a healthy and asymptomatic COVID-19-infected child. A healthy 10-year-old boy was referred to our eye clinic with a complaint of recent abnormal head posture and squint. His past medical history was unremarkable, and he had not received any medication or vaccinations within the last few weeks. No history of ocular or head trauma was observed. The patient was afebrile and had no respiratory symptoms. A comprehensive ocular examination was performed. All examinations, including slit-lamp, pupils, eyelids, and optic nerve heads, were normal. In ocular motor evaluations, left eye hyperdeviation was observed. Because of the history of COVID-19 in the mother of the child, he was referred to an infectious disease specialist and was tested for SARS-COV-2 with a nasopharyngeal swab specimen. The test was positive and SARS-COV-2 was detected. In addition, the patient was referred to a pediatric neurology department. Brain and orbital MRI was performed, and it was unremarkable. The post-viral fourth nerve palsy is uncommon, and post-COVID-19 has not been reported before. Clinicians should consider this infection in any recent strabismus in pediatrics. The children rarely complain of diplopia, and a recent abnormal head posture may be a sign of acquired strabismus.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 3","pages":"137-141"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11231681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D3 Supplementation and Aquatic Exercise Combination as a Safe- Efficient Therapeutic Strategy to Ameliorate Interleukin-6 and 10, and Social Interaction in Children with Autism.","authors":"Fahimeh Adibsaber, Soleyman Ansari, Alireza Elmieh, Babak Barkadehi","doi":"10.22037/ijcn.v18i3.43021","DOIUrl":"10.22037/ijcn.v18i3.43021","url":null,"abstract":"<p><strong>Objectives: </strong>Increasing evidence demonstrated that there are altered levels of both pro-and anti-inflammatory cytokines in autism spectrum disorder (ASD) and pointed out that immune dysfunction may also relate to social deficits. This study aimed to investigate the effect of aquatic exercise combined with vitamin D supplementation on social interaction and two related cytokines (Interleukin-6 and Interleukin-10) in children with ASD.</p><p><strong>Materials & methods: </strong>Forty boys with ASD (mean age: 10.90; age range: 6-14 years) were randomly assigned to the three interventions (groups 1, 2, and 3) and one control group (each 10 participants). Participants in the group 1 and 3 received a 10-week aquatic exercise program. Subjects in groups 2 and 3 took orally 50,000 IU of vitamin D3/week. This study evaluated the serum levels of IL-6 and IL-10, as well as the participants' social interaction at baseline and post-intervention.</p><p><strong>Results: </strong>Compared to the control group, all three interventions improved social skills scores (p< 0.001). Surprisingly, the combination strategy could significantly reduce IL-6 and increase IL-10 serum levels in children with ASD.</p><p><strong>Conclusion: </strong>Aqua-based exercise programs combined with vitamin D supplementation are recommended to benefit children with ASD and improve social and communication dysfunction.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 3","pages":"91-102"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11231685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.","authors":"Behnoosh Tasharrofi, Parvaneh Karimzadeh, Mostafa Asadollahi, Sepideh Hasani, Morteza Heidari, Mohammad Keramatipour","doi":"10.22037/ijcn.v18i3.43274","DOIUrl":"10.22037/ijcn.v18i3.43274","url":null,"abstract":"<p><strong>Objectives: </strong>Mutations in the TREX1 gene cause Aicardi-Goutières syndrome (AGS) 1, associated with a spectrum of autoimmune and neurodegenerative manifestations. AGS 1, the most severe neonatal type of AGS, is characterized by abnormal neurologic findings, visual inattention, hepatosplenomegaly, thrombocytopenia, skin rash, restlessness, and fever.</p><p><strong>Materials & methods: </strong>The present study described two affected siblings from an Iranian family whose phenotypes overlap with intrauterine infections. They had almost similar presentations, including developmental delay, microcephaly, no fix and follow epileptic seizures and the same pattern of brain CT scan involvements. Following clinical and paraclinical assessments, whole-exome sequencing was employed to determine the disease-causing variant, and subsequently, PCR-Sanger sequencing was performed to indicate the segregation pattern of the candidate variant in family members.</p><p><strong>Results: </strong>Genetic analysis revealed a novel homozygous missense variant (c.461A>C; p.D154A) in the TREX1 gene in affected family members. Sanger sequencing of other family members showed the expected zygosities.</p><p><strong>Conclusion: </strong>This study identifies a novel mutation in the TREX1 gene in this family and highlights the efficiency of next-generation sequencing-based techniques for obtaining a definite diagnosis in patients with early-onset encephalopathy.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 3","pages":"117-129"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11231675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Occupational Therapy in Kleefstra Syndrome.","authors":"Shakiba Ghaffari, Minoo Kalantari","doi":"10.22037/ijcn.v18i3.43716","DOIUrl":"10.22037/ijcn.v18i3.43716","url":null,"abstract":"<p><p>Kleefstra Syndrome (KS) is a rare genetic neurodevelopmental disorder caused by a microdeletion in chromosomal region 9q34.3 or a mutation in the euchromatin histone methyltransferase 1 (EHTM1) gene. Patients with KS show a range of clinical symptoms, including delay in motor and speech development, intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial dysmorphic features. The patient is a four-year-old girl who was initially diagnosed with developmental motor delay by a pediatric neurologist and referred to an occupational therapy clinic at the age of six months. The initial assessment showed hypotonia and difficulties with rolling. Occupational therapy intervention was based on principles of neurodevelopmental treatment and sensory integration (SI) with cognitive integration and activities of daily living (ADL) training. With continuous occupational therapy services over more than three years, she overcame many disabilities and improved in occupational performance skills such as gross and fine motor skills as well as cognitive abilities, although her verbal communication skills were not effective. The patient's progress was as follows: she began rolling over at seven months, achieved independent sitting at ten months, crawled at eighteen months, stood with support at twenty months, and took her first steps at twenty-six months. The predominant problem was speech delay, which was noticeable in this syndrome. When a patient is being referred because of KS, occupational and speech therapy assessments should be accurately implemented.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 3","pages":"143-149"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11231683/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation.","authors":"Toktam Moosavian, Ghazaleh Jamalipour Soufi, Sharareh Kamfar","doi":"10.22037/ijcn.v18i1.38971","DOIUrl":"10.22037/ijcn.v18i1.38971","url":null,"abstract":"<p><p>Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare disease of genetic origin due to the malfunctioning of a shared subunit of three mitochondrial multi-enzyme complexes. Phenotypes of this disease are a set of clinical manifestations ranging from neonatal disorders to myopathy or recurrent episodes of liver failures, and vomiting for which no adequate or definitive treatment is currently available. This study described a case involving a 16-year-old boy who had experienced recurrent vomiting of unknown cause from age two. Normal value ranges for the basic metabolic panel were reported in previous years. The patient was admitted with Wernicke's encephalopathy after the last vomiting attack, also indicating metabolites of organic acids compatible with DLD deficiency. Whole exome sequencing identified a known pathogenic mutation in the DLD gene, leading to a diagnosis of DLD deficiency. Our patient was treated with a high dose of thiamine supplementation and continued treatment, has not experienced any vomiting attacks or related problems in the last two years and has adequately responded to the treatment prescribed. Normal urine organic acid levels in patients with recurrent vomiting cannot roll out DLD deficiency. However, although thiamine deficiency typically induces Wernicke's encephalopathy, it can also be implicated in pyruvate dehydrogenase complex (PDHc) deficiency, and high-dose thiamine therapy (with doses up to 30 mg/kg) is recommended for deficient patients.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 1","pages":"131-138"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10874511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene.","authors":"Zahra Rashvand, Hossein Najmabadi, Kimia Kahrizi, Hossein Mozhdehipanah, Mohammad Moradi, Zohreh Estaki, Khadijeh Taherkhani, Nooshin Nikzat, Reza Najafipour, Mir Davood Omrani","doi":"10.22037/ijcn.v18i1.42188","DOIUrl":"10.22037/ijcn.v18i1.42188","url":null,"abstract":"<p><strong>Objectives: </strong>Intellectual disability (ID) represents a significant health challenge due to its diverse and intricate nature. A multitude of genes play a role in brain development and function, with defects in these genes potentially leading to ID. Considering that many of these genes have yet to be identified, and those identified have only been found in a small number of patients, no complete description of the phenotype created by these genes is available. <i>CC2D1A</i> is one of the genes whose loss-of-function mutation leads to a rare form of non-syndromic ID-3(OMIM*610055), and four pathogenic variants have been reported in this gene so far.</p><p><strong>Materials & methods: </strong>n the current study, two affected females were included with an initial diagnosis of ID who were from an Iranian family with consanguineous marriage. Whole-exome sequencing was used to identify the probable genetic defects. The Genotypic and phenotypic characteristics of the patients were compared with a mutation in the <i>CC2D1A</i> gene, and then the structure of the gene and its reported variants were investigated.</p><p><strong>Results: </strong>The patients carried a novel homozygous splicing variant (NM_017721, c.1641+1G>A) in intron 14, which is pathogenic according to the ACMG guideline. Loss-of-function mutations in <i>CC2D1A</i> have severe phenotypic consequences such as ID, autism spectrum disorder (ASD), and seizures. However, missense mutations lead to ASD with or without ID, and in some patients, they cause ciliopathy.</p><p><strong>Conclusion: </strong>This study reports the fifth novel, probably pathogenic variant in the <i>CC2D1A</i> gene. Comparing the clinical and molecular genetic features of the patients with loss-of-function mutation helped to describe the phenotype caused by this gene more precisely. Investigating the <i>CC2D1A</i> gene's mutations and structure revealed that it performs multiple functions. The DM14 domain appears more pivotal in triggering severe clinical symptoms, including ID, than the C2 domain.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 1","pages":"25-41"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10874518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Volume-based and Surface-Based Methods in Autism Compared with Healthy Controls Are Free surfer and CAT12 in Agreement?","authors":"Reyhane Faraji, Zohreh Ganji, Zahra Khandan Khadem, Hossein Akbari-Lalimi, Fereshteh Eidy, Hoda Zare","doi":"10.22037/IJCN.V18i1.43294","DOIUrl":"10.22037/IJCN.V18i1.43294","url":null,"abstract":"<p><strong>Objectives: </strong>Autism Spectrum Disorder (ASD) encompasses a range of neurodevelopmental disorders, and early detection is crucial. This study aims to identify the Regions of Interest (ROIs) with significant differences between healthy controls and individuals with autism, as well as evaluate the agreement between FreeSurfer 6 (FS6) and Computational Anatomy Toolbox (CAT12) methods.</p><p><strong>Materials & methods: </strong>Surface-based and volume-based features were extracted from FS software and CAT12 toolbox for Statistical Parametric Mapping (SPM) software to estimate ROI-wise biomarkers. These biomarkers were compared between 18 males Typically Developing Controls (TDCs) and 40 male subjects with ASD to assess group differences for each method. Finally, agreement and regression analyses were performed between the two methods for TDCs and ASD groups.</p><p><strong>Results: </strong>Both methods revealed ROIs with significant differences for each parameter. The Analysis of Covariance (ANCOVA) showed that both TDCs and ASD groups indicated a significant relationship between the two methods (p<0.001). The R² values for TDCs and ASD groups were 0.692 and 0.680, respectively, demonstrating a moderate correlation between CAT12 and FS6. Bland-Altman graphs showed a moderate level of agreement between the two methods.</p><p><strong>Conclusion: </strong>The moderate correlation and agreement between CAT12 and FS6 suggest that while some consistency is observed in the results, CAT12 is not a superior substitute for FS6 software. Further research is needed to identify a potential replacement for this method.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 1","pages":"93-118"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10874516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19-Associated Neurological Complications in Children.","authors":"Shenoy Sangeetha, Nagabushana Divya, Sunil Kumar, Somashekar Ar, Rao Chandrika","doi":"10.22037/ijcn.v18.43364","DOIUrl":"10.22037/ijcn.v18.43364","url":null,"abstract":"<p><strong>Objectives: </strong>Neurological manifestations of Severe Acute Respiratory Syndrome coronavirus-2 have been well documented in adults during and after infection with the virus as well as after vaccination. The incidence of severe neurological symptoms among children is very low. This study aimed to analyze the varied neurological manifestations after COVID-19 infection among children and give a report on a single-center experience with these severe neurological symptoms.</p><p><strong>Materials & methods: </strong>Case records of patients less than 18 years admitted between July 2021 to December 2022 with neurological manifestations and COVID-19 infection or with elevated COVID-19 antibodies after exclusion of other etiological diagnosis were analyzed.</p><p><strong>Results: </strong>There were 10 cases in the age range of 1-15 years. All the cases had elevated COVID-19 antibodies with history of contact 2-3 weeks prior except one who was positive for COVID-19 infection. Two cases presented with acute ascending paralysis suggestive of Guillain-Barre syndrome. Four cases presented with features of encephalopathy with clinical presentation fulfilling the criteria of Multisystem inflammatory syndrome in children. One case presented with fever and focal seizures with MRI showing sagittal sinus thrombosis, and one presented with fever and altered sensorium with MRI showing leukoencephalopathy. One child had cerebral mucormycosis without any evidence of immunosuppression. There was one child with features of encephalopathy with active COVID-19 infection.</p><p><strong>Conclusion: </strong>The varied presentation highlights the central and peripheral nervous system involvement by the virus in the pediatric population. It also emphasizes the need to investigate for COVID-19 in children presenting with these complaints during the pandemic.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 4","pages":"47-60"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lacosamide as an Adjunctive Therapy in Drug-Resistant Absence Epilepsy: Successful Treatment of Four Patients.","authors":"Toktam Moosavian, Hamidreza Moosavian","doi":"10.22037/ijcn.v18i4.45400","DOIUrl":"10.22037/ijcn.v18i4.45400","url":null,"abstract":"<p><p>Absence epilepsy is one of the most common epileptic syndromes in children, and despite its benign nature, a percentage of these children are drug-resistant. This study presents four cases of drug-resistant absence epilepsy in children who were unresponsive to traditional antiepileptic drugs. The study reports the successful use of Lacosamide as an adjunctive therapy to completely control symptoms and electroencephalogram (EEG) abnormalities. The patients, aged four to ten years, had previously failed treatment with Ethosuximide, Sodium Valproate, Levetiracetam, and Topiramate in various combinations. Lacosamide was initiated at a dose of 10 mg/kg per day in combination with Sodium valproate, resulting in rapid and sustained improvement. The patients remained symptom-free and showed no EEG abnormalities for one to two years. These findings suggest that Lacosamide can be considered a safe add-on drug for refractory absence epilepsy. However, it may be contended that additional confirmatory trials are necessary to investigate the effects of Lacosamide in a larger patient population.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"18 4","pages":"121-126"},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}