S. Staykova, Maya Atanasoska, M. Gaydarova, L. Balabanski, I. Bradinova, R. Vazharova
Abstract We present a case of a 15-year-old girl, referred for genetic analysis based on clinical evidence of intellectual disability and dysmorphic features with unknown etiology. Following genetic testing, the proband was diagnosed with Alazami-Yuan syndrome (ALYUS). ALYUS is a rare autosomal recessive disorder characterized by developmental delay, intellectual disability, poor speech, and congenital anomalies. Whole-genome sequencing and targeted analysis of 1,610 genes associated with intellectual disability and dysmorphic features were performed. One pathogenic homozygous missense variant in the TAF6 gene was identified (NM_139315.3:c.212T > C, p.Ile71Thr). The finding has been previously reported in scientific publications and detected in individuals with ALYUS. ALYUS occurs phenotypically in the presence of at least two pathogenic variants of the TAF6 gene in either homozygous or compound heterozygous state, regardless of the individual's sex. To date, seven patients from four families have been reported. To our knowledge, our proband is the first individual with ALYUS in Europe and in particular in Bulgaria. Clarification of our patient's genetic diagnosis provided precise genetic counseling for the family, allowed doctors to take appropriate measures for the proband's treatment, and gave options for disease prevention in the future offspring.
{"title":"Pathogenic Variant in the TAF6 Gene in a Bulgarian Patient with the Ultrarare Alazami-Yuan Syndrome","authors":"S. Staykova, Maya Atanasoska, M. Gaydarova, L. Balabanski, I. Bradinova, R. Vazharova","doi":"10.1055/s-0043-1772575","DOIUrl":"https://doi.org/10.1055/s-0043-1772575","url":null,"abstract":"Abstract We present a case of a 15-year-old girl, referred for genetic analysis based on clinical evidence of intellectual disability and dysmorphic features with unknown etiology. Following genetic testing, the proband was diagnosed with Alazami-Yuan syndrome (ALYUS). ALYUS is a rare autosomal recessive disorder characterized by developmental delay, intellectual disability, poor speech, and congenital anomalies. Whole-genome sequencing and targeted analysis of 1,610 genes associated with intellectual disability and dysmorphic features were performed. One pathogenic homozygous missense variant in the TAF6 gene was identified (NM_139315.3:c.212T > C, p.Ile71Thr). The finding has been previously reported in scientific publications and detected in individuals with ALYUS. ALYUS occurs phenotypically in the presence of at least two pathogenic variants of the TAF6 gene in either homozygous or compound heterozygous state, regardless of the individual's sex. To date, seven patients from four families have been reported. To our knowledge, our proband is the first individual with ALYUS in Europe and in particular in Bulgaria. Clarification of our patient's genetic diagnosis provided precise genetic counseling for the family, allowed doctors to take appropriate measures for the proband's treatment, and gave options for disease prevention in the future offspring.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86942687","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}
V.K. Gowda, Asha Shamnur, Varunvenkat M Srinivasan, Dhananjaya K. Vamyanmane
Abstract Introduction Glutaric aciduria type 1 is a rare treatable inborn error of metabolism caused due to deficiency of the enzyme glutaryl-CoA dehydrogenase. A restrictive lysine and tryptophan diet has significantly improved the outcome of presymptomatically diagnosed glutaric aciduria type 1 children. Case Here we present the case of a 6-month-old male infant with glutaric aciduria type 1 diagnosed based on clinical, biochemical, radiological, and genetically confirmed case on therapy with homemade diet modification. The patient later developed regression of milestones at 16 months of age while on treatment with good compliance. On examination, pallor and hypopigmented sparse hair with knuckle hyperpigmentation were noted. Investigation revealed low vitamin B12 levels. On vitamin B12 supplementation, the child showed significant improvement. Conclusion A reversible cause needs to be looked for in patients on dietary restriction and formula feeds treated for metabolic disorders.
{"title":"A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency","authors":"V.K. Gowda, Asha Shamnur, Varunvenkat M Srinivasan, Dhananjaya K. Vamyanmane","doi":"10.1055/s-0043-1771353","DOIUrl":"https://doi.org/10.1055/s-0043-1771353","url":null,"abstract":"Abstract Introduction Glutaric aciduria type 1 is a rare treatable inborn error of metabolism caused due to deficiency of the enzyme glutaryl-CoA dehydrogenase. A restrictive lysine and tryptophan diet has significantly improved the outcome of presymptomatically diagnosed glutaric aciduria type 1 children. Case Here we present the case of a 6-month-old male infant with glutaric aciduria type 1 diagnosed based on clinical, biochemical, radiological, and genetically confirmed case on therapy with homemade diet modification. The patient later developed regression of milestones at 16 months of age while on treatment with good compliance. On examination, pallor and hypopigmented sparse hair with knuckle hyperpigmentation were noted. Investigation revealed low vitamin B12 levels. On vitamin B12 supplementation, the child showed significant improvement. Conclusion A reversible cause needs to be looked for in patients on dietary restriction and formula feeds treated for metabolic disorders.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90010252","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}
M. Hsu, Zahra Zhu, S. Islam, Ryan J Chang, Nouran H Hammad, Kalyan C. Bonda, Ermal Aliu, Chintan Gandhi, G. Mainali, K. Thamburaj, S. Naik
Abstract Posterior fossa hemorrhage (PFH) is a highly morbid condition in preterm and term infants. In this article, we aim to first describe a case of PFH, and using this example, provide a comprehensive narrative review of the pathophysiology, risk factors, diagnosis, and management of PFH. Management may differ depending on the etiology and based on careful consideration of the risks and benefits of surgical versus conservative management.
{"title":"Comprehensive Clinical and Neuroimaging Review of Posterior Fossa Hemorrhage in Preterm and Term Newborns","authors":"M. Hsu, Zahra Zhu, S. Islam, Ryan J Chang, Nouran H Hammad, Kalyan C. Bonda, Ermal Aliu, Chintan Gandhi, G. Mainali, K. Thamburaj, S. Naik","doi":"10.1055/s-0043-1771380","DOIUrl":"https://doi.org/10.1055/s-0043-1771380","url":null,"abstract":"Abstract Posterior fossa hemorrhage (PFH) is a highly morbid condition in preterm and term infants. In this article, we aim to first describe a case of PFH, and using this example, provide a comprehensive narrative review of the pathophysiology, risk factors, diagnosis, and management of PFH. Management may differ depending on the etiology and based on careful consideration of the risks and benefits of surgical versus conservative management.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83642527","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}
Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, U. Yiş
Abstract The hemogram parameters have been extensively discussed in numerous diseases, including epilepsy, for their diagnostic and prognostic values. We aimed to investigate the impact of hemogram parameters, namely, the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) at the time of the first seizure on the remission durations of the patients with self-limited epilepsy with centrotemporal spikes (SeLECTS). This retrospective study was conducted on patients with SeLECTS with a minimum follow-up of 2 years. We assessed the hemogram parameters obtained from the venous blood samples collected from the patients upon admission. The duration of remission was categorized into two groups for further data analysis: those with a remission period less than 2 years and those with a remission period of more than 2 years. This study involved 122 patients with SeLECTS, of which 85% ( n = 102) had remission durations of ≤2 years. The analysis revealed that patients with remission durations exceeding 2 years had a significantly higher median leukocyte ( p = 0.009), neutrophil ( p < 0.001), and platelet ( p < 0.001) counts. Additionally, higher levels of NLR and PLR were observed in patients with longer-term remission ( p < 0.001). However, there were no significant differences between the two groups in terms of lymphocyte count, monocyte count, mean platelet volume, or LMR. Leukocyte, neutrophil, platelet, NLR, and PLR counts have shown potential as predictive indicators of remission times in patients with SeLECTS. Neurologists can potentially find value in these easily accessible parameters when evaluating the future trajectory of patients with SeLECTS.
{"title":"Effects of Hemogram Parameters on Remission Durations in Self-Limited Epilepsy with Centrotemporal Spikes","authors":"Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, U. Yiş","doi":"10.1055/s-0043-1770080","DOIUrl":"https://doi.org/10.1055/s-0043-1770080","url":null,"abstract":"Abstract The hemogram parameters have been extensively discussed in numerous diseases, including epilepsy, for their diagnostic and prognostic values. We aimed to investigate the impact of hemogram parameters, namely, the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) at the time of the first seizure on the remission durations of the patients with self-limited epilepsy with centrotemporal spikes (SeLECTS). This retrospective study was conducted on patients with SeLECTS with a minimum follow-up of 2 years. We assessed the hemogram parameters obtained from the venous blood samples collected from the patients upon admission. The duration of remission was categorized into two groups for further data analysis: those with a remission period less than 2 years and those with a remission period of more than 2 years. This study involved 122 patients with SeLECTS, of which 85% ( n = 102) had remission durations of ≤2 years. The analysis revealed that patients with remission durations exceeding 2 years had a significantly higher median leukocyte ( p = 0.009), neutrophil ( p < 0.001), and platelet ( p < 0.001) counts. Additionally, higher levels of NLR and PLR were observed in patients with longer-term remission ( p < 0.001). However, there were no significant differences between the two groups in terms of lymphocyte count, monocyte count, mean platelet volume, or LMR. Leukocyte, neutrophil, platelet, NLR, and PLR counts have shown potential as predictive indicators of remission times in patients with SeLECTS. Neurologists can potentially find value in these easily accessible parameters when evaluating the future trajectory of patients with SeLECTS.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79423807","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}
Abstract Infantile tremor syndrome (ITS) is a rare clinical disorder characterized by coarse tremors, anemia, and regression/delay of development in children around 6 months to 1 year of age belonging to poor socioeconomic strata and on milk-based diet. It accounts for 0.2 to 2% cases in India. No conclusive etiology has been ascertained so far. Nutritional deficiency (like vitamin B12, magnesium, vitamin C, zinc) is the most accepted association. We report six such cases that presented to our hospital with the classical neurological, dermatological, and hematological findings of ITS. Investigations revealed all cases to be vitamin B12 deficient. Two of our cases had corticocerebral atrophy on neuroimaging. One case expired due to respiratory failure due to severe pneumonia. Others were treated with vitamin B12 injections. Other nutrients like iron, zinc, folic acid, and magnesium were also supplemented. Routine follow-up of these cases showed gradual improvement in clinical, hematological, and neurological parameters. Although rare, ITS should be considered in any infant presenting with anemia, malnutrition, developmental delay, hyperpigmentation, and tremors. Early treatment can prevent neurological sequelae as it is largely a preventable disease. Regular follow-up is helpful to evaluate response to treatment.
{"title":"Infantile Tremor Syndrome: A Case Series","authors":"A. Saoji, S. Save, S. Rastogi","doi":"10.1055/s-0043-1769479","DOIUrl":"https://doi.org/10.1055/s-0043-1769479","url":null,"abstract":"Abstract Infantile tremor syndrome (ITS) is a rare clinical disorder characterized by coarse tremors, anemia, and regression/delay of development in children around 6 months to 1 year of age belonging to poor socioeconomic strata and on milk-based diet. It accounts for 0.2 to 2% cases in India. No conclusive etiology has been ascertained so far. Nutritional deficiency (like vitamin B12, magnesium, vitamin C, zinc) is the most accepted association. We report six such cases that presented to our hospital with the classical neurological, dermatological, and hematological findings of ITS. Investigations revealed all cases to be vitamin B12 deficient. Two of our cases had corticocerebral atrophy on neuroimaging. One case expired due to respiratory failure due to severe pneumonia. Others were treated with vitamin B12 injections. Other nutrients like iron, zinc, folic acid, and magnesium were also supplemented. Routine follow-up of these cases showed gradual improvement in clinical, hematological, and neurological parameters. Although rare, ITS should be considered in any infant presenting with anemia, malnutrition, developmental delay, hyperpigmentation, and tremors. Early treatment can prevent neurological sequelae as it is largely a preventable disease. Regular follow-up is helpful to evaluate response to treatment.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85441064","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}
Abstract Migraine and epilepsy are important causes of morbidity in adolescents and young adults. Mostly the diagnosis is readily made by using the predefined criteria. However, in extremely rare cases, children who present with typical symptoms of migraine with aura or familial hemiplegic migraine might have an underlying etiology of epilepsy. We hereby present the case of two children who presented with migraine-like symptoms but on detailed workup revealed an underlying epilepsy. Both patients responded to antiepileptic medications. These cases highlight the importance of a detailed history and comprehensive investigation plan for such patients to prevent erroneous diagnosis and migraine prophylaxis.
{"title":"Two Puzzling Cases of Headache: A Case Series","authors":"Jasmine Singh, C. Azad","doi":"10.1055/s-0043-1771351","DOIUrl":"https://doi.org/10.1055/s-0043-1771351","url":null,"abstract":"Abstract Migraine and epilepsy are important causes of morbidity in adolescents and young adults. Mostly the diagnosis is readily made by using the predefined criteria. However, in extremely rare cases, children who present with typical symptoms of migraine with aura or familial hemiplegic migraine might have an underlying etiology of epilepsy. We hereby present the case of two children who presented with migraine-like symptoms but on detailed workup revealed an underlying epilepsy. Both patients responded to antiepileptic medications. These cases highlight the importance of a detailed history and comprehensive investigation plan for such patients to prevent erroneous diagnosis and migraine prophylaxis.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83003652","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}
Martha E. Oyuela-Mancera, Jennifer Maturana, Laura C. Rodríguez, Juan J. Perez-Acosta, César E. Rodado-Mieles, Nicolás Bastidas
Abstract Gangliogliomas and gangliocytomas are ganglion cell tumors that arise from the neuroepithelium. The most marked difference between both tumors is that gangliogliomas have a neoplastic glial component. At the same time, gangliocytomas comprise mature dysplastic ganglion cells with no neoplastic glial component. A 4-year-old male patient, a product of third gestation, was admitted to the emergency department after presenting obstructive bronchial symptoms secondary to viral infection with bacterial coinfection; during this condition, he accidentally fell from the crib (1-m high), with subsequent mild cranioencephalic trauma. A noncontrast cranial computed tomography showed a solid mass in the right thalamus and generated basal ganglion edema. A gangliocytoma grade II was confirmed by magnetic resonance imaging and histopathological result. Our unique case demonstrates an atypical location not previously reported in the pediatric population.
{"title":"Thalamic Gangliocytoma in a Pediatric Patient—An Incidental Diagnosis","authors":"Martha E. Oyuela-Mancera, Jennifer Maturana, Laura C. Rodríguez, Juan J. Perez-Acosta, César E. Rodado-Mieles, Nicolás Bastidas","doi":"10.1055/s-0043-1770374","DOIUrl":"https://doi.org/10.1055/s-0043-1770374","url":null,"abstract":"Abstract Gangliogliomas and gangliocytomas are ganglion cell tumors that arise from the neuroepithelium. The most marked difference between both tumors is that gangliogliomas have a neoplastic glial component. At the same time, gangliocytomas comprise mature dysplastic ganglion cells with no neoplastic glial component. A 4-year-old male patient, a product of third gestation, was admitted to the emergency department after presenting obstructive bronchial symptoms secondary to viral infection with bacterial coinfection; during this condition, he accidentally fell from the crib (1-m high), with subsequent mild cranioencephalic trauma. A noncontrast cranial computed tomography showed a solid mass in the right thalamus and generated basal ganglion edema. A gangliocytoma grade II was confirmed by magnetic resonance imaging and histopathological result. Our unique case demonstrates an atypical location not previously reported in the pediatric population.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73481782","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}
Epilepsymay be the consequence of several causes, including genetic anomalies, structural brain malformations, hypoxicischemic encephalopathy, brain tumors, and drugs, all contributing to the imbalance between excitatory and inhibitory neurons and modulatory interneurons, which in turn provoke abnormal, simultaneous electric discharge(s) involving part or all the brain.1–3 In the pregenetic, pregenomic era, in most cases, the exact cause of such neuronal/interneuronal disequilibrium remained unknown and the term idiopathic epilepsy was used to define all the epilepsies without cause. At the same time, some specific epileptic syndromes were indicated by the eponym of the first physician who originally described the condition (e.g., West syndrome, Dravet syndrome, Ohtahara syndrome, Lennox–Gastaut syndrome) or by some characteristic clinical features (e.g., nocturnal frontal lobe epilepsy, absence epilepsy, epilepsy and mental retardation limited to females). In many of these occurrences, the distinct epileptic syndrome was defined mainly by its most relevant clinical feature (e.g., seizure semiology), associated comorbidities, and electroencephalographic patterns.3,4 In the last 20 years, the field of epilepsy gene discoveries has gone through at least three different stages: (1) an early stage of relentless gene discovery in monogenic familial epilepsy syndromes; (2) a relatively quiescent and disappointing period characterized by largely negative genomewide association candidate gene studies; and (3) a genomewide era inwhich large-scale molecular genetic studies have led to the identification of several novel epilepsy genes, especially in sporadic forms of epilepsy.1–3 In thismonographic issue (subdivided in part 1 and part 2), entitled The Atlas of Monogenic Epilepsies, Pediatric Neurologists and Medical Geneticists and Scientists from different Italian universities contributed to 25 in-depth reviews covering many genes related to monogenic epilepsies. All the reviews encompass amolecular analysis of the genes and their related protein, as well as a clinical description of the associatedphenotypesand thepossibilitiesofgene-specific treatment. These reviews may be subdivided, according to proteins functions, to:
{"title":"The Atlas of Monogenic Epilepsies","authors":"A. Praticò","doi":"10.1055/s-0043-57242","DOIUrl":"https://doi.org/10.1055/s-0043-57242","url":null,"abstract":"Epilepsymay be the consequence of several causes, including genetic anomalies, structural brain malformations, hypoxicischemic encephalopathy, brain tumors, and drugs, all contributing to the imbalance between excitatory and inhibitory neurons and modulatory interneurons, which in turn provoke abnormal, simultaneous electric discharge(s) involving part or all the brain.1–3 In the pregenetic, pregenomic era, in most cases, the exact cause of such neuronal/interneuronal disequilibrium remained unknown and the term idiopathic epilepsy was used to define all the epilepsies without cause. At the same time, some specific epileptic syndromes were indicated by the eponym of the first physician who originally described the condition (e.g., West syndrome, Dravet syndrome, Ohtahara syndrome, Lennox–Gastaut syndrome) or by some characteristic clinical features (e.g., nocturnal frontal lobe epilepsy, absence epilepsy, epilepsy and mental retardation limited to females). In many of these occurrences, the distinct epileptic syndrome was defined mainly by its most relevant clinical feature (e.g., seizure semiology), associated comorbidities, and electroencephalographic patterns.3,4 In the last 20 years, the field of epilepsy gene discoveries has gone through at least three different stages: (1) an early stage of relentless gene discovery in monogenic familial epilepsy syndromes; (2) a relatively quiescent and disappointing period characterized by largely negative genomewide association candidate gene studies; and (3) a genomewide era inwhich large-scale molecular genetic studies have led to the identification of several novel epilepsy genes, especially in sporadic forms of epilepsy.1–3 In thismonographic issue (subdivided in part 1 and part 2), entitled The Atlas of Monogenic Epilepsies, Pediatric Neurologists and Medical Geneticists and Scientists from different Italian universities contributed to 25 in-depth reviews covering many genes related to monogenic epilepsies. All the reviews encompass amolecular analysis of the genes and their related protein, as well as a clinical description of the associatedphenotypesand thepossibilitiesofgene-specific treatment. These reviews may be subdivided, according to proteins functions, to:","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75331458","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}
Burcu Çalışkan, A. Canbal, A. Güven, G. Bitirgen, M. Erdi, H. Çaksen
Abstract Idiopathic intracranial hypertension or pseudotumor cerebri syndrome (PTCS) is defined as an increase in intracranial pressure (ICP) without an identifiable and/or structural cause or abnormal cerebrospinal fluid content. The most common symptoms of PTCS include headache, vomiting, pulsatile tinnitus, blurred vision, and diplopia. In 2 to 3% of PTCS patients, severe and rapidly progressive vision loss may develop within 1 month since symptoms begin; this clinical condition is usually defined as fulminant idiopathic intracranial hypertension (FIIH). This study presented a patient admitted to the hospital with headache and blurred vision, who also had high severe acute respiratory syndrome coronavirus 2 infections total antibody level and was treated with a lumboperitoneal shunt due to medical treatment-resistant increased ICP. We also reviewed similar cases previously reported in the literature. To the best of our knowledge, no children affected with coronavirus 2019 related to FIIH and requiring surgical treatment have been yet reported in the literature.
{"title":"Coronavirus Disease 2019-Related Fulminant Idiopathic Intracranial Hypertension","authors":"Burcu Çalışkan, A. Canbal, A. Güven, G. Bitirgen, M. Erdi, H. Çaksen","doi":"10.1055/s-0043-1770377","DOIUrl":"https://doi.org/10.1055/s-0043-1770377","url":null,"abstract":"Abstract Idiopathic intracranial hypertension or pseudotumor cerebri syndrome (PTCS) is defined as an increase in intracranial pressure (ICP) without an identifiable and/or structural cause or abnormal cerebrospinal fluid content. The most common symptoms of PTCS include headache, vomiting, pulsatile tinnitus, blurred vision, and diplopia. In 2 to 3% of PTCS patients, severe and rapidly progressive vision loss may develop within 1 month since symptoms begin; this clinical condition is usually defined as fulminant idiopathic intracranial hypertension (FIIH). This study presented a patient admitted to the hospital with headache and blurred vision, who also had high severe acute respiratory syndrome coronavirus 2 infections total antibody level and was treated with a lumboperitoneal shunt due to medical treatment-resistant increased ICP. We also reviewed similar cases previously reported in the literature. To the best of our knowledge, no children affected with coronavirus 2019 related to FIIH and requiring surgical treatment have been yet reported in the literature.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75056275","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}
Ismail (Ishmael) is the son of the Prophet Ibrahim (Abraham, Alayhi As-Salam [AS]), born from his wife, Hajar (Hagar).1 In the Quran, Ismail is mentioned with features such as a docile boy, faithful to his word, patient, surrendering, pleasing in the sight of Allah, commanding salah and zakat, a resul, and a nabi.2,3However, the Quran rejects the belief that Ismail, like Ibrahim, Ishaq (Isaac), Yakub (Jacob), and the Tribes is also Jewish or Christian.4 The story of Ibrahim (AS) sacrificing his son is described in surah As-Saffat of the Quran.3 Herein, we discuss the story of Ismail’s sacrifice by his father from Islamic perspective to draw attention to the importance of spirituality for children with neuromuscular disorders followed in the pediatric intensive care unit (PICU) and their parents. Ibrahim (AS) saw in his dream that he sacrificed his 7year-old son Ismail. He had this dream three nights (tarwiyah, arafah, and eid-al-adha nights) in a row. Dreams of prophets are revelation. So, it was an order of Allah that had to be fulfilled.5,6 He said to Ismail: “My chuck! Take a rope and a big knife. Then, let’s go to the Sabir mountain.” (Also known as Jabal Umm Şabir, this mountain is in Makkah, Saudi Arabia.)7 He never spoke of what his Lord had commanded him. The following conversation took place between Ibrahim (AS) and Ismail on Sabir mountain6:
伊斯梅尔(以实玛利)是先知易卜拉欣(亚伯拉罕，Alayhi AS - salam [AS])的儿子，由他的妻子哈贾尔(Hagar)所生在《古兰经》中，伊斯梅尔被描述为一个温顺的男孩，忠实于他的话语，耐心，屈服，在安拉面前讨人喜欢，指挥萨拉赫和天课，结果，和纳比。然而，《古兰经》拒绝相信伊斯梅尔，像易卜拉欣、伊沙克(以撒)、雅库(雅各)和部落一样，也是犹太人或基督徒。4易卜拉欣(AS)牺牲他儿子的故事在《古兰经》的苏拉AS - saffat中有描述。3在这里，我们从伊斯兰的角度讨论伊斯梅尔父亲牺牲的故事，以引起人们注意精神对患有神经肌肉疾病的儿童及其父母的重要性，随后在儿科重症监护室(PICU)。易卜拉欣(AS)在梦中看到他牺牲了他7岁的儿子伊斯梅尔。他连续三晚做了这个梦(tarwiyah, arafah和eid-al-adha之夜)。先知的梦是启示。所以，这是真主的命令，必须履行。他对伊斯梅尔说:“我的chuck!拿一根绳子和一把大刀。然后，我们去萨比尔山。(也被称为乌姆山Şabir，这座山在沙特阿拉伯的麦加)7他从来没有说过他的主所吩咐他的。易卜拉欣和伊斯梅尔在萨比尔山上的谈话如下:
{"title":"The Sacrifice of Ismail by His Father Ibrahim (Alayhi As-Salam): An Example of Surrender for Today's Children and Parents","authors":"H. Çaksen","doi":"10.1055/s-0043-1762922","DOIUrl":"https://doi.org/10.1055/s-0043-1762922","url":null,"abstract":"Ismail (Ishmael) is the son of the Prophet Ibrahim (Abraham, Alayhi As-Salam [AS]), born from his wife, Hajar (Hagar).1 In the Quran, Ismail is mentioned with features such as a docile boy, faithful to his word, patient, surrendering, pleasing in the sight of Allah, commanding salah and zakat, a resul, and a nabi.2,3However, the Quran rejects the belief that Ismail, like Ibrahim, Ishaq (Isaac), Yakub (Jacob), and the Tribes is also Jewish or Christian.4 The story of Ibrahim (AS) sacrificing his son is described in surah As-Saffat of the Quran.3 Herein, we discuss the story of Ismail’s sacrifice by his father from Islamic perspective to draw attention to the importance of spirituality for children with neuromuscular disorders followed in the pediatric intensive care unit (PICU) and their parents. Ibrahim (AS) saw in his dream that he sacrificed his 7year-old son Ismail. He had this dream three nights (tarwiyah, arafah, and eid-al-adha nights) in a row. Dreams of prophets are revelation. So, it was an order of Allah that had to be fulfilled.5,6 He said to Ismail: “My chuck! Take a rope and a big knife. Then, let’s go to the Sabir mountain.” (Also known as Jabal Umm Şabir, this mountain is in Makkah, Saudi Arabia.)7 He never spoke of what his Lord had commanded him. The following conversation took place between Ibrahim (AS) and Ismail on Sabir mountain6:","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88308177","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：