Reversible cerebral vasoconstriction syndrome (RCVS) is a clinical and radiological diagnosis characterized by the acute onset of headache, multiple constrictions of several cerebral blood vessels, and remission within 3 months [1]. Thunderclap headache, which usually lasts for 1 to 3 hours, is a typical symptom accompanying RCVS, and focal neurologic deficits may also occur due to hemorrhages, infarcts, and even posterior reversible encephalopathy syndrome (PRES) [2]. RCVS predominantly occurs in middle-aged women aged 30 to 50 years [1]. Only small case series and individual cases of RCVS have been reported in children [2]. We describe a healthy child with a thunderclap headache associated with RCVS, which is the first pediatric case of this condition in Korea. An 8-year-old boy presenting with sudden-onset, severe, and diffuse headache was referred to our pediatric neurology clinic. He described thunderclap headaches with a verbal numeric pain scale of 9 to 10 intensity within 2 hours of falling asleep. He woke up with a severe headache, and taking acetaminophen did not help. The patient was born full-term without any perinatal problems, and his medical history was unremarkable. He and his family had no history of headaches, migraines, or neurological diseases. He was not taking any medications. On admission, his neurological examination results were normal. His blood pressure was 110/70 mm Hg. A complete blood count, serum electrolyte concentrations, serum glucose level, hepatic and renal function tests, thyroid function test, and routine urinalysis all showed normal results. Brain magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) showed multiple segmental narrowing of the cerebral arteries without brain parenchymal lesions (Fig. 1A); however, electroencephalography showed normal findings without focal slow waves. Several laboratory tests were performed under the suspicion of arteriopathy or an infectious or rheumatologic disorder. The erythrocyte sedimentation rate and C-reactive protein level were normal. Cerebrospinal fluid (CSF) analysis revealed a normal cell count (0/μL), protein level (21 mg/dL), and glucose level (72 mg/dL), with a normal opening pressure (17 cmH2O). The CSF bacterial culture was negative, and polymerase chain reaction tests did not detect herpes simplex virus, human herpes virus 6, varicella zoster virus, or enterovirus. The plasma von Willebrand factor antigen test, performed to detect primary angiitis of the central nervous system, was normal. He had normal procoagulant screening results, including protein C, protein S, antithrombin III, homocysteine levels, negative lupus anticoagulant, and cardiolipin antibodies. His autoimmune workup, including rheumatoid factor,
{"title":"Reversible Cerebral Vasoconstriction Syndrome Presenting with Thunderclap Headache in a Child","authors":"B. Lee","doi":"10.26815/acn.2022.00311","DOIUrl":"https://doi.org/10.26815/acn.2022.00311","url":null,"abstract":"Reversible cerebral vasoconstriction syndrome (RCVS) is a clinical and radiological diagnosis characterized by the acute onset of headache, multiple constrictions of several cerebral blood vessels, and remission within 3 months [1]. Thunderclap headache, which usually lasts for 1 to 3 hours, is a typical symptom accompanying RCVS, and focal neurologic deficits may also occur due to hemorrhages, infarcts, and even posterior reversible encephalopathy syndrome (PRES) [2]. RCVS predominantly occurs in middle-aged women aged 30 to 50 years [1]. Only small case series and individual cases of RCVS have been reported in children [2]. We describe a healthy child with a thunderclap headache associated with RCVS, which is the first pediatric case of this condition in Korea. An 8-year-old boy presenting with sudden-onset, severe, and diffuse headache was referred to our pediatric neurology clinic. He described thunderclap headaches with a verbal numeric pain scale of 9 to 10 intensity within 2 hours of falling asleep. He woke up with a severe headache, and taking acetaminophen did not help. The patient was born full-term without any perinatal problems, and his medical history was unremarkable. He and his family had no history of headaches, migraines, or neurological diseases. He was not taking any medications. On admission, his neurological examination results were normal. His blood pressure was 110/70 mm Hg. A complete blood count, serum electrolyte concentrations, serum glucose level, hepatic and renal function tests, thyroid function test, and routine urinalysis all showed normal results. Brain magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) showed multiple segmental narrowing of the cerebral arteries without brain parenchymal lesions (Fig. 1A); however, electroencephalography showed normal findings without focal slow waves. Several laboratory tests were performed under the suspicion of arteriopathy or an infectious or rheumatologic disorder. The erythrocyte sedimentation rate and C-reactive protein level were normal. Cerebrospinal fluid (CSF) analysis revealed a normal cell count (0/μL), protein level (21 mg/dL), and glucose level (72 mg/dL), with a normal opening pressure (17 cmH2O). The CSF bacterial culture was negative, and polymerase chain reaction tests did not detect herpes simplex virus, human herpes virus 6, varicella zoster virus, or enterovirus. The plasma von Willebrand factor antigen test, performed to detect primary angiitis of the central nervous system, was normal. He had normal procoagulant screening results, including protein C, protein S, antithrombin III, homocysteine levels, negative lupus anticoagulant, and cardiolipin antibodies. His autoimmune workup, including rheumatoid factor,","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41385280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disorder of the central nervous system (CNS), with a relatively high incidence in the pediatric population [1]. Although the precise pathogenesis is unknown, ADEM is presumed to be an autoimmune disorder stimulated by a systemic infection or vaccination [2]. Aberrant immune reactions in ADEM are associated with several pathogens, including viruses (such as varicella, influenza virus, Epstein-Barr virus, enterovirus, and severe acute respiratory syndrome coronavirus 2) and bacteria (such as Mycoplasma pneumoniae and Streptococcus) [2]. Intussusception is one of the most common causes of intestinal obstruction [3]. The pathogenesis of intussusception without anatomical leading points remains unknown. However, intestinal lymphoid hyperplasia stimulated by infectious pathogens may cause intussusception [3]. We present an unusual case of ADEM accompanied by intussusception secondary to M. pneumoniae infection. A previously healthy 17-month-old Korean girl was referred to our department with poor feeding, vomiting, decreased activity, and cyclic irritability following a 4-day prodromal illness consisting of cough, sputum, and mild fever. On admission, her body temperature was 37.7°C. Auscultation of both lung fields and the abdomen revealed bilateral crackles and decreased bowel sounds, respectively. Chest radiography revealed showed bilateral perihilar interstitial infiltrates (Fig. 1A). Her initial blood test result revealed no abnormalities, except for leukocytosis (12.3 × 10/L white blood cells) and a mildly increased serum C-reactive protein level (0.7 mg/dL; reference range, < 0.5 mg/dL). Multiplex real-time polymerase chain reaction (PCR) results for respiratory viral and bacterial pathogens in nasopharyngeal aspirate were negative, except for M. pneumoniae. The result of an M. pneumoniae-specific immunoglobulin M antibody test was positive (3.30 immune status ratio [ISR]; reference range < 0.8 ISR). Although the patient did not have stool mixed with blood and mucus, gastrointestinal ultrasonography was performed because of cyclic irritability. An ultrasound image showed the typical findings of intussusception (Fig. 1B and C) and the enlargement of several lymph nodes within the intussuscipiens, which may have been a leading point. The condition was diagnosed as ileocolic intussusception. She was treated with roxithromycin for M. pneumoniae and non-operative reduction using pneumatic pressure by enema for
{"title":"A Case of Acute Disseminated Encephalomyelitis Accompanying Intussusception Associated with Mycoplasma pneumoniae Infection","authors":"Sehyun Kang, B. Lee","doi":"10.26815/acn.2022.00353","DOIUrl":"https://doi.org/10.26815/acn.2022.00353","url":null,"abstract":"Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disorder of the central nervous system (CNS), with a relatively high incidence in the pediatric population [1]. Although the precise pathogenesis is unknown, ADEM is presumed to be an autoimmune disorder stimulated by a systemic infection or vaccination [2]. Aberrant immune reactions in ADEM are associated with several pathogens, including viruses (such as varicella, influenza virus, Epstein-Barr virus, enterovirus, and severe acute respiratory syndrome coronavirus 2) and bacteria (such as Mycoplasma pneumoniae and Streptococcus) [2]. Intussusception is one of the most common causes of intestinal obstruction [3]. The pathogenesis of intussusception without anatomical leading points remains unknown. However, intestinal lymphoid hyperplasia stimulated by infectious pathogens may cause intussusception [3]. We present an unusual case of ADEM accompanied by intussusception secondary to M. pneumoniae infection. A previously healthy 17-month-old Korean girl was referred to our department with poor feeding, vomiting, decreased activity, and cyclic irritability following a 4-day prodromal illness consisting of cough, sputum, and mild fever. On admission, her body temperature was 37.7°C. Auscultation of both lung fields and the abdomen revealed bilateral crackles and decreased bowel sounds, respectively. Chest radiography revealed showed bilateral perihilar interstitial infiltrates (Fig. 1A). Her initial blood test result revealed no abnormalities, except for leukocytosis (12.3 × 10/L white blood cells) and a mildly increased serum C-reactive protein level (0.7 mg/dL; reference range, < 0.5 mg/dL). Multiplex real-time polymerase chain reaction (PCR) results for respiratory viral and bacterial pathogens in nasopharyngeal aspirate were negative, except for M. pneumoniae. The result of an M. pneumoniae-specific immunoglobulin M antibody test was positive (3.30 immune status ratio [ISR]; reference range < 0.8 ISR). Although the patient did not have stool mixed with blood and mucus, gastrointestinal ultrasonography was performed because of cyclic irritability. An ultrasound image showed the typical findings of intussusception (Fig. 1B and C) and the enlargement of several lymph nodes within the intussuscipiens, which may have been a leading point. The condition was diagnosed as ileocolic intussusception. She was treated with roxithromycin for M. pneumoniae and non-operative reduction using pneumatic pressure by enema for","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43252852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Joo Hi Kim, Hyunjoo Lee, Ji-Hoon Na, Young-Mock Lee
Epilepsy with myoclonic-atonic seizures (EMAS), also known as Doose syndrome, is characterized by the presence of myoclonic-atonic seizures (MAS) in an otherwise normal child who may have a history of febrile and/or afebrile seizures [1]. Doose syndrome was previously classified as cryptogenic or idiopathic epilepsy with primary generalized minor seizures with Lennox-Gastaut syndrome (LGS) in the 1970s and 1980s [1,2]. However, research eventually distinguished Doose syndrome and LGS as different diseases. The recommended therapies for Doose syndrome include anti-seizure medication (ASM) and diet therapy, such as ketogenic diet (KD) and modified atkins diet (MAD). ASMs such as valproic acid, levetiracetam, clobazam, lamotrigine, ethosuximide, and topiramate are known to be effective. However, it has been reported that pharmacoresistance occurs in about 90% of cases. When diet therapy is applied to patients with Doose syndrome, it is known that seizure reduction of more than 50% is achieved in about 80% of patients [3]. Although there is no consensus on the most suitable treatment because Doose syndrome is mostly drug-resistant, diet therapy is by far the most effective. However, the application of KD and MAD in pediatric patients is somewhat difficult due to dietary discomfort and gastrointestinal troubles [3-5]. Recently, growing evidence has shown that low glycemic index treatment (LGIT) is as good as the classic KD or MAD in terms of efficacy for drug-resistant epilepsy [4,6]. Herein, we report the case of a patient with Doose syndrome who showed improvement in clinical seizures and electroencephalogram (EEG) after LGIT. This study was approved by the Institutional Review Board of the Gangnam Severance Hospital, Yonsei University College of Medicine. Informed consent for this retrospective study was waived by the board (3-2022-0135). An 8-year-old boy with no related medical history and with normal development had his first seizure when he was 5. At that time, he complained of sudden fall-like events and frequent myoclonus. The main seizures were MAS, with absence seizures occurring frequently. In addition, clonic seizures of both extremities with impaired awareness often lasted for 3 to 5 minutes. There was no past history of febrile seizures and no family history of seizures. Five months after his first seizure, the same seizures happened again, so he was treated with valproate acid from the regional tertiary hospital. As the patient complained of memory loss and seizure recurred once every 2 weeks, he visited our hospital outpatient clinic. His magnetic resonance imaging (MRI) was normal and his awake EEG demonstrated frequent multifocal sharp wave discharges. His memory loss was considered
{"title":"A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment","authors":"Joo Hi Kim, Hyunjoo Lee, Ji-Hoon Na, Young-Mock Lee","doi":"10.26815/acn.2022.00290","DOIUrl":"https://doi.org/10.26815/acn.2022.00290","url":null,"abstract":"Epilepsy with myoclonic-atonic seizures (EMAS), also known as Doose syndrome, is characterized by the presence of myoclonic-atonic seizures (MAS) in an otherwise normal child who may have a history of febrile and/or afebrile seizures [1]. Doose syndrome was previously classified as cryptogenic or idiopathic epilepsy with primary generalized minor seizures with Lennox-Gastaut syndrome (LGS) in the 1970s and 1980s [1,2]. However, research eventually distinguished Doose syndrome and LGS as different diseases. The recommended therapies for Doose syndrome include anti-seizure medication (ASM) and diet therapy, such as ketogenic diet (KD) and modified atkins diet (MAD). ASMs such as valproic acid, levetiracetam, clobazam, lamotrigine, ethosuximide, and topiramate are known to be effective. However, it has been reported that pharmacoresistance occurs in about 90% of cases. When diet therapy is applied to patients with Doose syndrome, it is known that seizure reduction of more than 50% is achieved in about 80% of patients [3]. Although there is no consensus on the most suitable treatment because Doose syndrome is mostly drug-resistant, diet therapy is by far the most effective. However, the application of KD and MAD in pediatric patients is somewhat difficult due to dietary discomfort and gastrointestinal troubles [3-5]. Recently, growing evidence has shown that low glycemic index treatment (LGIT) is as good as the classic KD or MAD in terms of efficacy for drug-resistant epilepsy [4,6]. Herein, we report the case of a patient with Doose syndrome who showed improvement in clinical seizures and electroencephalogram (EEG) after LGIT. This study was approved by the Institutional Review Board of the Gangnam Severance Hospital, Yonsei University College of Medicine. Informed consent for this retrospective study was waived by the board (3-2022-0135). An 8-year-old boy with no related medical history and with normal development had his first seizure when he was 5. At that time, he complained of sudden fall-like events and frequent myoclonus. The main seizures were MAS, with absence seizures occurring frequently. In addition, clonic seizures of both extremities with impaired awareness often lasted for 3 to 5 minutes. There was no past history of febrile seizures and no family history of seizures. Five months after his first seizure, the same seizures happened again, so he was treated with valproate acid from the regional tertiary hospital. As the patient complained of memory loss and seizure recurred once every 2 weeks, he visited our hospital outpatient clinic. His magnetic resonance imaging (MRI) was normal and his awake EEG demonstrated frequent multifocal sharp wave discharges. His memory loss was considered","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47822229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Myelin oligodendrocyte glycoprotein (MOG) is an essential component of oligodendrocyte sur-face membranes [1]. Numerous studies have im-plicated MOG in immune-mediated demyelinating diseases, including acute disseminated en-cephalomyelitis, optic neuritis, and transverse myelitis [2]. However, MOG antibody-associated diseases are not limited to demyelinating syndromes. Cerebral cortical encephalitis (CCE), first described by Ogawa et al. [2] in 2017, is a newly identified phenotype of MOG antibody-associated disease. Common symptoms of anti-MOG-associated CCE include seizures, headache, encephalitic features, and cortical symptoms, such as paresis [2]. Unilateral cortical hyperintensities
{"title":"A Case of Recurrent Anti-MOG-Associated Cerebral Cortical Encephalitis Mimicking Viral Encephalitis and Hemiplegic Migraine","authors":"D. Kwon, Soung-Kyung Park, J. Cho, J. Yeom","doi":"10.26815/acn.2022.00318","DOIUrl":"https://doi.org/10.26815/acn.2022.00318","url":null,"abstract":"Myelin oligodendrocyte glycoprotein (MOG) is an essential component of oligodendrocyte sur-face membranes [1]. Numerous studies have im-plicated MOG in immune-mediated demyelinating diseases, including acute disseminated en-cephalomyelitis, optic neuritis, and transverse myelitis [2]. However, MOG antibody-associated diseases are not limited to demyelinating syndromes. Cerebral cortical encephalitis (CCE), first described by Ogawa et al. [2] in 2017, is a newly identified phenotype of MOG antibody-associated disease. Common symptoms of anti-MOG-associated CCE include seizures, headache, encephalitic features, and cortical symptoms, such as paresis [2]. Unilateral cortical hyperintensities","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43341681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Kim, G. Seo, Seung Hwan Oh, W. Chung, Jeesuk Yu
BCL11 transcription factor A ( BCL11A )-related intellectual disability, also known as Dias-Logan syndrome
BCL11转录因子A (BCL11A)相关的智力残疾，也称为Dias-Logan综合征
{"title":"A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy","authors":"S. Kim, G. Seo, Seung Hwan Oh, W. Chung, Jeesuk Yu","doi":"10.26815/acn.2022.00304","DOIUrl":"https://doi.org/10.26815/acn.2022.00304","url":null,"abstract":"BCL11 transcription factor A ( BCL11A )-related intellectual disability, also known as Dias-Logan syndrome","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46691583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lacosamide is a relatively new anti-seizure medication (ASM) that is classified as a sodium channel blocker (SCB). Unlike conventional SCBs, such as carbamazepine, phenytoin, and oxcarbazepine, lacosamide stabilizes hyperexcitable neuronal membranes by selectively enhancing the slow inactivation of voltage-gated sodium channels [1-3]. In addition, it exhibits relatively little interaction with other ASMs and has high utility because it has both oral and intravenous (IV) formulations. In recent years, IV lacosamide has increasingly been recognized as a useful treatment for status epilepticus [4,5]. Lacosamide has shown efficacy and safety not only in adults, but also in children [2]. As such, lacosamide has been approved for use as monotherapy and adjunctive therapy for the treatment of focal-onset seizures in adults, adolescents, and children aged ≥ 4 years with epilepsy in the European Union and the United States [3,6-8]. However, further research on the efficacy and safety of lacosamide in children is still needed. In particular, in South Korea, lacosamide has not yet been approved for use in patients with epilepsy among children under 16 years of age. Here, we report three cases of pediatric intractable focal epilepsy that were effectively treated with lacosamide add-on therapy. This study was approved by the Institutional Review Board of the Gangnam Severance Hospital, Yonsei University College of Medicine for the study of ASMs, including lacosamide, in refractory childhood epilepsy (3-2022-0135). The review board waived the need for informed consent for this retrospective study. Case 1: A 10-year-old girl with normal development without a specific birth history had intractable focal seizures at 24 months of age. After the seizures, she began experiencing cognitive decline. She took several ASMs, but they had no significant effect on seizure control, and her condition progressed to intractable epilepsy. In the pre-surgical evaluation, brain magnetic resonance imaging (MRI) was normal; however, focality was found in the right frontal area on fluorodeoxyglucose-positron emission tomography (PET) and electroencephalography (EEG) (Fig. 1A). Hence, she qualified for epilepsy surgery on her right frontal lobe. Her full-scale intelligence quotient (FSIQ) at that time was 69 and she weighed 31 kg. While awaiting epilepsy surgery, she was administered lacosamide as an add-on therapy. She became seizure-free after the titration of lacosamide up to 200 mg/day. Her seizures stopped for more than a year after the treatment, with no
{"title":"The Efficacy of Lacosamide in Children with Drug-Resistant Epilepsy: Three Cases in Pediatric Patients","authors":"Ji-Hoon Na, Hoon-Chul Kang, H. Kim","doi":"10.26815/acn.2022.00325","DOIUrl":"https://doi.org/10.26815/acn.2022.00325","url":null,"abstract":"Lacosamide is a relatively new anti-seizure medication (ASM) that is classified as a sodium channel blocker (SCB). Unlike conventional SCBs, such as carbamazepine, phenytoin, and oxcarbazepine, lacosamide stabilizes hyperexcitable neuronal membranes by selectively enhancing the slow inactivation of voltage-gated sodium channels [1-3]. In addition, it exhibits relatively little interaction with other ASMs and has high utility because it has both oral and intravenous (IV) formulations. In recent years, IV lacosamide has increasingly been recognized as a useful treatment for status epilepticus [4,5]. Lacosamide has shown efficacy and safety not only in adults, but also in children [2]. As such, lacosamide has been approved for use as monotherapy and adjunctive therapy for the treatment of focal-onset seizures in adults, adolescents, and children aged ≥ 4 years with epilepsy in the European Union and the United States [3,6-8]. However, further research on the efficacy and safety of lacosamide in children is still needed. In particular, in South Korea, lacosamide has not yet been approved for use in patients with epilepsy among children under 16 years of age. Here, we report three cases of pediatric intractable focal epilepsy that were effectively treated with lacosamide add-on therapy. This study was approved by the Institutional Review Board of the Gangnam Severance Hospital, Yonsei University College of Medicine for the study of ASMs, including lacosamide, in refractory childhood epilepsy (3-2022-0135). The review board waived the need for informed consent for this retrospective study. Case 1: A 10-year-old girl with normal development without a specific birth history had intractable focal seizures at 24 months of age. After the seizures, she began experiencing cognitive decline. She took several ASMs, but they had no significant effect on seizure control, and her condition progressed to intractable epilepsy. In the pre-surgical evaluation, brain magnetic resonance imaging (MRI) was normal; however, focality was found in the right frontal area on fluorodeoxyglucose-positron emission tomography (PET) and electroencephalography (EEG) (Fig. 1A). Hence, she qualified for epilepsy surgery on her right frontal lobe. Her full-scale intelligence quotient (FSIQ) at that time was 69 and she weighed 31 kg. While awaiting epilepsy surgery, she was administered lacosamide as an add-on therapy. She became seizure-free after the titration of lacosamide up to 200 mg/day. Her seizures stopped for more than a year after the treatment, with no","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41920519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose: This study evaluated the efficacy and tolerability of cannabidiol (CBD) as an add-on therapy for childhood-onset Lennox-Gastaut syndrome (LGS). Methods: This retrospective study enrolled patients who visited the Department of Pediatric Neurology at Asan Medical Center from March 2019 to February 2022 and were treated with CBD. Electronic medical records and clinically relevant factors (including the type of epilepsy and seizures, etiology, and the number of concomitantly used anti-epileptic drugs) were reviewed. The outcome was clinical response to CBD (≥50% or <50% seizure reduction at 1, 3, and 6 months after CBD introduction and the last follow-up visit). Relevant adverse events were monitored. Results: Thirty patients were included. The median age of epilepsy onset was 5.5 years (interquar-tile range [IQR], 3.3 to 25.3), with a median treatment duration of CBD of 6 months (IQR, 3.3 to 7.0). Sixteen patients (53.3%) showed ≥50% seizure reduction at the last follow-up. In a univariate analysis, patients whose epilepsy commenced after 3 years of age were more likely to respond to CBD (odds ratio, 10.11; 95% confidence interval, 1.05 to 97.00; P =0.04). Adverse events were observed in 11 patients (36.6%); the most common adverse event was somnolence. Conclusion: CBD could be a treatment option for children and young adults with drug-resistant LGS with a tolerable safety profile. Age at epilepsy onset (>3 years) was associated with a favorable response to CBD treatment. Further prospective studies with larger populations are needed to evaluate the tolerability and efficacy of CBD in patients with drug-resistant epilepsy of various etiologies.
{"title":"Cannabidiol Treatment for Lennox-Gastaut Syndrome at a Single Tertiary Center in South Korea","authors":"H. Jang, Min‐Jee Kim, M. Yum, T. Ko","doi":"10.26815/acn.2022.00255","DOIUrl":"https://doi.org/10.26815/acn.2022.00255","url":null,"abstract":"Purpose: This study evaluated the efficacy and tolerability of cannabidiol (CBD) as an add-on therapy for childhood-onset Lennox-Gastaut syndrome (LGS). Methods: This retrospective study enrolled patients who visited the Department of Pediatric Neurology at Asan Medical Center from March 2019 to February 2022 and were treated with CBD. Electronic medical records and clinically relevant factors (including the type of epilepsy and seizures, etiology, and the number of concomitantly used anti-epileptic drugs) were reviewed. The outcome was clinical response to CBD (≥50% or <50% seizure reduction at 1, 3, and 6 months after CBD introduction and the last follow-up visit). Relevant adverse events were monitored. Results: Thirty patients were included. The median age of epilepsy onset was 5.5 years (interquar-tile range [IQR], 3.3 to 25.3), with a median treatment duration of CBD of 6 months (IQR, 3.3 to 7.0). Sixteen patients (53.3%) showed ≥50% seizure reduction at the last follow-up. In a univariate analysis, patients whose epilepsy commenced after 3 years of age were more likely to respond to CBD (odds ratio, 10.11; 95% confidence interval, 1.05 to 97.00; P =0.04). Adverse events were observed in 11 patients (36.6%); the most common adverse event was somnolence. Conclusion: CBD could be a treatment option for children and young adults with drug-resistant LGS with a tolerable safety profile. Age at epilepsy onset (>3 years) was associated with a favorable response to CBD treatment. Further prospective studies with larger populations are needed to evaluate the tolerability and efficacy of CBD in patients with drug-resistant epilepsy of various etiologies.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44825186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mutations in the lysine demethylase 5C ( KDM5C ) gene are an important cause of the syndromic Claes-Jensen type of X-linked intellectual disability and are associated with mild to severe intellectual disability. Intellectual disability is a clinically variable and genetically heterogeneous disorder characterized by limitations in both intellectual functioning and adaptive behavior, af-fecting the social and practical skills that are learned before the age of 18 years [1,2]. Intellectual disability affects 1% to 3% of the population worldwide and often coexists with other neuro-logical conditions [3]. Advances in human genetics and clinical research have led to the identification of hundreds of genes responsible for intellectual disability. Numerous studies of large cohorts of patients with intellectual disabilities have shown that the disease has a significantly higher incidence in males, indicating that X-linked gene defects are the main cause of intellectual disability [4]. Here, we report three male siblings with variations in KDM5C , c.1602G>C (p.Trp534Cys
{"title":"A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy","authors":"Jin A Chung, Yunha Choi, Kyu Yong Chae","doi":"10.26815/acn.2022.00276","DOIUrl":"https://doi.org/10.26815/acn.2022.00276","url":null,"abstract":"Mutations in the lysine demethylase 5C ( KDM5C ) gene are an important cause of the syndromic Claes-Jensen type of X-linked intellectual disability and are associated with mild to severe intellectual disability. Intellectual disability is a clinically variable and genetically heterogeneous disorder characterized by limitations in both intellectual functioning and adaptive behavior, af-fecting the social and practical skills that are learned before the age of 18 years [1,2]. Intellectual disability affects 1% to 3% of the population worldwide and often coexists with other neuro-logical conditions [3]. Advances in human genetics and clinical research have led to the identification of hundreds of genes responsible for intellectual disability. Numerous studies of large cohorts of patients with intellectual disabilities have shown that the disease has a significantly higher incidence in males, indicating that X-linked gene defects are the main cause of intellectual disability [4]. Here, we report three male siblings with variations in KDM5C , c.1602G>C (p.Trp534Cys","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47829648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neonatal hypoglycemia is a common condition that constitutes one of the leading causes of brain injury. Symptomatic hypoglycemia may present with metabolic encephalopathy characterized by neurological features, including stupor, jitteriness, seizures, apnea, irritability, and muscular hypoto-nia mimicking several other diseases. The typical magnetic resonance imaging (MRI) patterns of neonatal hypoglycemic encephalopathy (NHE) are signal abnormalities localized to the parietal and occipital lobes and progressive parenchymal loss of the predominant occipital lobe in the new-born. Diffusion-weighted imaging (DWI) may show restricted diffusion in the involved areas. These brain lesions are transient, and the revers-ibility of DWI has also been reported [1]. The patterns of injury associated with NHE are more diverse than those previously reported, and in-clude white matter, cortical, and basal ganglia/ thalamic abnormalities, white matter hemorrhage, and middle cerebral artery territory infarctions [2]. However, no reports of
{"title":"An Atypical Case of Neonatal Hypoglycemic Encephalopathy with Extensive White Matter Lesions","authors":"Won Jik Shin, Younghyun Kim, Kye Hyang Lee","doi":"10.26815/acn.2022.00339","DOIUrl":"https://doi.org/10.26815/acn.2022.00339","url":null,"abstract":"Neonatal hypoglycemia is a common condition that constitutes one of the leading causes of brain injury. Symptomatic hypoglycemia may present with metabolic encephalopathy characterized by neurological features, including stupor, jitteriness, seizures, apnea, irritability, and muscular hypoto-nia mimicking several other diseases. The typical magnetic resonance imaging (MRI) patterns of neonatal hypoglycemic encephalopathy (NHE) are signal abnormalities localized to the parietal and occipital lobes and progressive parenchymal loss of the predominant occipital lobe in the new-born. Diffusion-weighted imaging (DWI) may show restricted diffusion in the involved areas. These brain lesions are transient, and the revers-ibility of DWI has also been reported [1]. The patterns of injury associated with NHE are more diverse than those previously reported, and in-clude white matter, cortical, and basal ganglia/ thalamic abnormalities, white matter hemorrhage, and middle cerebral artery territory infarctions [2]. However, no reports of","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45111264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jemima Grace D Fronda, Mel Michel G Villaluz, Cristina M. Cruz-Urbi
Purpose: Intravenous phenobarbital has not been available at our institution since 2019. This study aimed to determine the effectiveness of oral phenobarbital loading at a dose of 15 to 20 mg/kg to achieve therapeutic serum levels and clinical seizure control in pediatric patients with acute repetitive seizures. Methods: This is a retrospective single-center review of the medical records of pediatric patients admitted for acute repetitive seizures (from January 2019 to June 2022) at the Philippine Children’s Medical Center who were given an oral phenobarbital loading dose of 15 to 20 mg/kg with serum level measurements taken within 48 hours after oral loading. Results: Eleven patients were given a single oral phenobarbital loading dose of 15 to 20 mg/kg, while 14 were given two doses of 10 mg/kg 12 hours apart. All 25 patients achieved therapeutic serum levels within 48 hours post-loading. Higher serum levels were seen at 48 hours (median, 19.8 μg/mL at 24 hours vs. 24.4 μg/mL at 48 hours). This difference was statistically significant at 5% ( P =0.023), and the majority achieved adequate seizure control without requiring additional anti-seizure medications (76%). Transient drowsiness was the most commonly documented adverse effect. Conclusion: Oral loading of phenobarbital at a dose of 15 to 20 mg/kg given as a single dose or in two divided doses is an effective and safe alternative to achieve therapeutic serum levels and adequate clinical seizure control at 24 hours post-loading. This may be a promising and useful intervention at centers without available intravenous phenobarbital.
{"title":"Oral Loading of Phenobarbital to Achieve Therapeutic Effects in Pediatric Patients with Acute Repetitive Seizures","authors":"Jemima Grace D Fronda, Mel Michel G Villaluz, Cristina M. Cruz-Urbi","doi":"10.26815/acn.2022.00213","DOIUrl":"https://doi.org/10.26815/acn.2022.00213","url":null,"abstract":"Purpose: Intravenous phenobarbital has not been available at our institution since 2019. This study aimed to determine the effectiveness of oral phenobarbital loading at a dose of 15 to 20 mg/kg to achieve therapeutic serum levels and clinical seizure control in pediatric patients with acute repetitive seizures. Methods: This is a retrospective single-center review of the medical records of pediatric patients admitted for acute repetitive seizures (from January 2019 to June 2022) at the Philippine Children’s Medical Center who were given an oral phenobarbital loading dose of 15 to 20 mg/kg with serum level measurements taken within 48 hours after oral loading. Results: Eleven patients were given a single oral phenobarbital loading dose of 15 to 20 mg/kg, while 14 were given two doses of 10 mg/kg 12 hours apart. All 25 patients achieved therapeutic serum levels within 48 hours post-loading. Higher serum levels were seen at 48 hours (median, 19.8 μg/mL at 24 hours vs. 24.4 μg/mL at 48 hours). This difference was statistically significant at 5% ( P =0.023), and the majority achieved adequate seizure control without requiring additional anti-seizure medications (76%). Transient drowsiness was the most commonly documented adverse effect. Conclusion: Oral loading of phenobarbital at a dose of 15 to 20 mg/kg given as a single dose or in two divided doses is an effective and safe alternative to achieve therapeutic serum levels and adequate clinical seizure control at 24 hours post-loading. This may be a promising and useful intervention at centers without available intravenous phenobarbital.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43492037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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