G. Conti, G. Farello, M. Ceravolo, M. Fusco, C. Cuppari, Alessio Mancuso, I. Ceravolo, E. David, G. Iapadre, Giovanna Scorrano, M. F. Fiorile, R. Chimenz
Abstract Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban–Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele. The other, more common RD is juvenile nephronophthisis (NPHP), that presents a progressive interstitial fibrosis, associated with small cysts at the corticomedullary junction. NPHP is the most frequent genetic cause for end-stage RD in the first three decades of life. Symptoms start at approximately 6 years of age with urine concentrating defects, polydipsia, polyuria, and secondary enuresis.
{"title":"Joubert Syndrome and Renal Implication","authors":"G. Conti, G. Farello, M. Ceravolo, M. Fusco, C. Cuppari, Alessio Mancuso, I. Ceravolo, E. David, G. Iapadre, Giovanna Scorrano, M. F. Fiorile, R. Chimenz","doi":"10.1055/s-0042-1759541","DOIUrl":"https://doi.org/10.1055/s-0042-1759541","url":null,"abstract":"Abstract Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban–Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele. The other, more common RD is juvenile nephronophthisis (NPHP), that presents a progressive interstitial fibrosis, associated with small cysts at the corticomedullary junction. NPHP is the most frequent genetic cause for end-stage RD in the first three decades of life. Symptoms start at approximately 6 years of age with urine concentrating defects, polydipsia, polyuria, and secondary enuresis.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"91 1","pages":"049 - 052"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74921218","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. Amorini, G. Iapadre, Alessio Mancuso, I. Ceravolo, G. Farello, A. Scardamaglia, S. Gramaglia, A. Ceravolo, A. Salpietro, C. Cuppari
Abstract Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys and liver, defining a group of conditions termed syndrome and Joubert syndrome-related disorders (JSRD). Currently, more than 30 causative genes have been identified, involved in the development and stability of the primary cilium. Correlations genotype–phenotype are emerging between clinical presentations and mutations in JSRD genes, with implications in terms of molecular diagnosis, prenatal diagnosis, follow-up, and management of mutated patients.
{"title":"An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)","authors":"M. Amorini, G. Iapadre, Alessio Mancuso, I. Ceravolo, G. Farello, A. Scardamaglia, S. Gramaglia, A. Ceravolo, A. Salpietro, C. Cuppari","doi":"10.1055/s-0042-1760242","DOIUrl":"https://doi.org/10.1055/s-0042-1760242","url":null,"abstract":"Abstract Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys and liver, defining a group of conditions termed syndrome and Joubert syndrome-related disorders (JSRD). Currently, more than 30 causative genes have been identified, involved in the development and stability of the primary cilium. Correlations genotype–phenotype are emerging between clinical presentations and mutations in JSRD genes, with implications in terms of molecular diagnosis, prenatal diagnosis, follow-up, and management of mutated patients.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"29 1","pages":"023 - 032"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87978491","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}
G. Valentini, Mariana Saia, G. Farello, V. Salpietro, Alessio Mancuso, I. Ceravolo, P. V. Colucci, Manuela Torre, G. Iapadre, G. Rosa, F. Cucinotta
Abstract Meckel syndrome (MKS) is a lethal, autosomal recessive, congenital syndrome caused by mutations in genes that encode proteins structurally or functionally related to the primary cilium. MKS is a malformative syndrome, most commonly characterized by occipital meningoencephalocele, polycystic kidney disease, liver fibrosis, and post- and (occasionally) preaxial polydactyly. To date, more than 10 genes are known to constitute the molecular background of MKS, displaying genetic heterogeneity. Individuals with MKS may resemble some phenotypic features of Joubert syndrome and related disorders, thus making diagnostic setting quite challenging. Here, we systematically reviewed the main clinical and genetic characteristics of MKS and its role among ciliopathies.
{"title":"Meckel Syndrome: A Clinical and Molecular Overview","authors":"G. Valentini, Mariana Saia, G. Farello, V. Salpietro, Alessio Mancuso, I. Ceravolo, P. V. Colucci, Manuela Torre, G. Iapadre, G. Rosa, F. Cucinotta","doi":"10.1055/s-0042-1759531","DOIUrl":"https://doi.org/10.1055/s-0042-1759531","url":null,"abstract":"Abstract Meckel syndrome (MKS) is a lethal, autosomal recessive, congenital syndrome caused by mutations in genes that encode proteins structurally or functionally related to the primary cilium. MKS is a malformative syndrome, most commonly characterized by occipital meningoencephalocele, polycystic kidney disease, liver fibrosis, and post- and (occasionally) preaxial polydactyly. To date, more than 10 genes are known to constitute the molecular background of MKS, displaying genetic heterogeneity. Individuals with MKS may resemble some phenotypic features of Joubert syndrome and related disorders, thus making diagnostic setting quite challenging. Here, we systematically reviewed the main clinical and genetic characteristics of MKS and its role among ciliopathies.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"7 1","pages":"062 - 067"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74658680","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}
C. Cuppari, A. Salpietro, R. Chimenz, L. Colavita, M. Ceravolo, E. Gitto, A. Sallemi, M. Fusco, I. Ceravolo, G. Farello, G. Iapadre, C. Rocca, Ainara Salazar, Alessio Mancuso
Abstract Joubert's syndrome with digital facial oral defects represents a rare subgroup of Joubert's syndrome with related disorders. There are 11 forms of oral-facial-digital syndromes and are characterized by having neurological signs of JS associated with orofacial anomalies and often polydactyly. The most severe variant is the OFD type VI (Varadi-Papp syndrome) in which there are tongue hamartomas, multiple frenula, midline notch of the upper lip, mesoaxial polydactyly, and hypothalamic hamartomas. Treatments are symptomatic and supportive with reconstructive surgery for correctable malformation and physical therapy, occupational therapy, speech therapy, and infant stimulation for mental delay.
{"title":"Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics","authors":"C. Cuppari, A. Salpietro, R. Chimenz, L. Colavita, M. Ceravolo, E. Gitto, A. Sallemi, M. Fusco, I. Ceravolo, G. Farello, G. Iapadre, C. Rocca, Ainara Salazar, Alessio Mancuso","doi":"10.1055/s-0042-1759516","DOIUrl":"https://doi.org/10.1055/s-0042-1759516","url":null,"abstract":"Abstract Joubert's syndrome with digital facial oral defects represents a rare subgroup of Joubert's syndrome with related disorders. There are 11 forms of oral-facial-digital syndromes and are characterized by having neurological signs of JS associated with orofacial anomalies and often polydactyly. The most severe variant is the OFD type VI (Varadi-Papp syndrome) in which there are tongue hamartomas, multiple frenula, midline notch of the upper lip, mesoaxial polydactyly, and hypothalamic hamartomas. Treatments are symptomatic and supportive with reconstructive surgery for correctable malformation and physical therapy, occupational therapy, speech therapy, and infant stimulation for mental delay.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"52 1","pages":"058 - 061"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74172387","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}
I. Ceravolo, F. Granata, E. Gitto, G. Iapadre, R. Chimenz, N. Giannitto, Alessio Mancuso, M. Ceravolo, Tommaso La Macchia, Federico Rissotto, G. Farello, C. Cuppari
Abstract Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the cerebellar vermis resulting in breathing defects, ataxia, and delayed development. Ophthalmological examination reveals eye involvement with nystagmus and retinal defects. Genetic counseling is important for the prevention of new cases. Great advances have been made in recent years. Management is symptomatic and multidisciplinary. In the present review, we discussed the most frequent ophthalmological anomalies associated with JS and speculated on the role of ciliary physiology in eye development.
{"title":"Ophthalmological Findings in Joubert Syndrome and Related Disorders","authors":"I. Ceravolo, F. Granata, E. Gitto, G. Iapadre, R. Chimenz, N. Giannitto, Alessio Mancuso, M. Ceravolo, Tommaso La Macchia, Federico Rissotto, G. Farello, C. Cuppari","doi":"10.1055/s-0042-1759536","DOIUrl":"https://doi.org/10.1055/s-0042-1759536","url":null,"abstract":"Abstract Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the cerebellar vermis resulting in breathing defects, ataxia, and delayed development. Ophthalmological examination reveals eye involvement with nystagmus and retinal defects. Genetic counseling is important for the prevention of new cases. Great advances have been made in recent years. Management is symptomatic and multidisciplinary. In the present review, we discussed the most frequent ophthalmological anomalies associated with JS and speculated on the role of ciliary physiology in eye development.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"1028 1","pages":"068 - 072"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77196817","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}
G. Stroscio, C. Cuppari, M. Ceravolo, A. Salpietro, Francesco Battaglia, A. Sallemi, M. Fusco, A. Ceravolo, G. Iapadre, E. Calì, D. Impollonia, F. Granata
Abstract Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this syndrome presented a characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign is defined by the presence in axial section at the level of a deck/midbrain, of hypo/dysplasia of the cerebellar vermis, abnormally deep interpeduncular fossa and horizontalized thickened and elongated superior cerebellar peduncles. Although “molar tooth sign” is peculiar of JS, other radiological findings have been also reported in these patients. Here, the authors briefly assumed the principal magnetic resonance imaging findings of JS.
{"title":"Radiological Features of Joubert's Syndrome","authors":"G. Stroscio, C. Cuppari, M. Ceravolo, A. Salpietro, Francesco Battaglia, A. Sallemi, M. Fusco, A. Ceravolo, G. Iapadre, E. Calì, D. Impollonia, F. Granata","doi":"10.1055/s-0042-1760241","DOIUrl":"https://doi.org/10.1055/s-0042-1760241","url":null,"abstract":"Abstract Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this syndrome presented a characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign is defined by the presence in axial section at the level of a deck/midbrain, of hypo/dysplasia of the cerebellar vermis, abnormally deep interpeduncular fossa and horizontalized thickened and elongated superior cerebellar peduncles. Although “molar tooth sign” is peculiar of JS, other radiological findings have been also reported in these patients. Here, the authors briefly assumed the principal magnetic resonance imaging findings of JS.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"179 1","pages":"073 - 077"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80039049","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. Manti, E. Gitto, I. Ceravolo, Alessio Mancuso, A. Ceravolo, A. Salpietro, G. Farello, R. Chimenz, G. Iapadre, Francesco Battaglia, C. Cuppari
Abstract Joubert syndrome (JS) and related disorders are a group of congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign, a complex midbrain–hindbrain malformation. Moreover, JS may be associated with multiorgan involvement, mainly nephronophthisis, hepatic fibrosis, retinal dystrophy, and other abnormalities with both inter- and intra-familial variability. Therefore, these patients should be followed by both diagnostic protocol and multidisciplinary approach to assess multiorgan involvement. Here, we briefly summarize the possible complications in patients with JS.
{"title":"A Brief Focus on Joubert Syndrome and Related Acute Complications","authors":"S. Manti, E. Gitto, I. Ceravolo, Alessio Mancuso, A. Ceravolo, A. Salpietro, G. Farello, R. Chimenz, G. Iapadre, Francesco Battaglia, C. Cuppari","doi":"10.1055/s-0042-1760240","DOIUrl":"https://doi.org/10.1055/s-0042-1760240","url":null,"abstract":"Abstract Joubert syndrome (JS) and related disorders are a group of congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign, a complex midbrain–hindbrain malformation. Moreover, JS may be associated with multiorgan involvement, mainly nephronophthisis, hepatic fibrosis, retinal dystrophy, and other abnormalities with both inter- and intra-familial variability. Therefore, these patients should be followed by both diagnostic protocol and multidisciplinary approach to assess multiorgan involvement. Here, we briefly summarize the possible complications in patients with JS.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"440 1","pages":"003 - 007"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73595360","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}
C. Cuppari, I. Ceravolo, Alessio Mancuso, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, M. Ceravolo
Abstract The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of the multiplicity of problems and calls for close collaboration between different specialists. The primary objective is the total care of the child and his family, regardless of the rarity and complexity of the disease, to obtain the highest possible degree of mental and physical health and autonomy.
{"title":"Joubert Syndrome: Diagnostic Evaluation and Follow-up","authors":"C. Cuppari, I. Ceravolo, Alessio Mancuso, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, M. Ceravolo","doi":"10.1055/s-0042-1759532","DOIUrl":"https://doi.org/10.1055/s-0042-1759532","url":null,"abstract":"Abstract The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of the multiplicity of problems and calls for close collaboration between different specialists. The primary objective is the total care of the child and his family, regardless of the rarity and complexity of the disease, to obtain the highest possible degree of mental and physical health and autonomy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"242 1","pages":"053 - 057"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88470167","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}
C. Cuppari, A. Salpietro, I. Ceravolo, G. Iapadre, M. Fusco, A. Sallemi, Alessio Mancuso, G. Farello, M. Ceravolo
Abstract Joubert syndrome (JS) follows autosomal recessive inheritance, with rare X-linked recessive cases. The disease is genetically heterogeneous with neurological features associated with multiorgan involvement (e.g., retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly). The incidence of JS and related disorders is between 1/80,000 and 1/100,000 live births. Many causative genes have been identified, all encoding for proteins of the cilium or the centrosome, making the JS part of a group of diseases called “ciliopathies.” The identification of the molecular defect in couples at risk is allowed by prenatal genetic testing, whereas fetal ultrasound and brain neuroimaging are informative in the first and second trimester of pregnancy.
{"title":"Ciliopathies: Genetic Counseling","authors":"C. Cuppari, A. Salpietro, I. Ceravolo, G. Iapadre, M. Fusco, A. Sallemi, Alessio Mancuso, G. Farello, M. Ceravolo","doi":"10.1055/s-0042-1759515","DOIUrl":"https://doi.org/10.1055/s-0042-1759515","url":null,"abstract":"Abstract Joubert syndrome (JS) follows autosomal recessive inheritance, with rare X-linked recessive cases. The disease is genetically heterogeneous with neurological features associated with multiorgan involvement (e.g., retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly). The incidence of JS and related disorders is between 1/80,000 and 1/100,000 live births. Many causative genes have been identified, all encoding for proteins of the cilium or the centrosome, making the JS part of a group of diseases called “ciliopathies.” The identification of the molecular defect in couples at risk is allowed by prenatal genetic testing, whereas fetal ultrasound and brain neuroimaging are informative in the first and second trimester of pregnancy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"19 1","pages":"041 - 043"},"PeriodicalIF":0.2,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85219077","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}
Alexandria E. Melendez‐Zaidi, R. Foroozan, G. Orman, Farida Abid
In parallel to the spread of the novel severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2), there has been the growing recognition that active SARS-CoV-2 infection has the potential to effect both the peripheral and central nervous systems. When it comes to the SARS-CoV-2 vaccine, however, reporting has been more uncertain. As the vaccination rate has risen, we have seen a rise in rare neurological complications thought to be associated with the vaccination including acute transverse myelitis, Guillain–Barre syndrome, optic neuritis, and Tolosa–Hunt syndrome. The Centers for Disease Control and Prevention (CDC) estimates 98 confirmed cases of Guillain–Barre syndrome out of 12.6 million doses. Given the initial age limits of vaccination eligibility, most reports have been limited to the adult population. Here, we report a case of intracranial hypertension (IH), evolving to fulminant IH in a healthy female after receiving the SARS-CoV-2 vaccine. While elevated intracranial pressure has been reported in the context of active SARS-CoV-2 infections and postinfection multisystem inflammatory syndrome (MIS-C), this is the first reported case of pediatric IH after vaccination alone.
{"title":"COVID-19 Vaccination May Provoke Intracranial Hypertension","authors":"Alexandria E. Melendez‐Zaidi, R. Foroozan, G. Orman, Farida Abid","doi":"10.1055/s-0042-1750788","DOIUrl":"https://doi.org/10.1055/s-0042-1750788","url":null,"abstract":"In parallel to the spread of the novel severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2), there has been the growing recognition that active SARS-CoV-2 infection has the potential to effect both the peripheral and central nervous systems. When it comes to the SARS-CoV-2 vaccine, however, reporting has been more uncertain. As the vaccination rate has risen, we have seen a rise in rare neurological complications thought to be associated with the vaccination including acute transverse myelitis, Guillain–Barre syndrome, optic neuritis, and Tolosa–Hunt syndrome. The Centers for Disease Control and Prevention (CDC) estimates 98 confirmed cases of Guillain–Barre syndrome out of 12.6 million doses. Given the initial age limits of vaccination eligibility, most reports have been limited to the adult population. Here, we report a case of intracranial hypertension (IH), evolving to fulminant IH in a healthy female after receiving the SARS-CoV-2 vaccine. While elevated intracranial pressure has been reported in the context of active SARS-CoV-2 infections and postinfection multisystem inflammatory syndrome (MIS-C), this is the first reported case of pediatric IH after vaccination alone.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"319 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80178672","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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