Xena Al Qahtani, Trisha J. Multhaupt-Buell, N. Sharma, Marisela E Dy-Hollins
Mutations in the GRIN2A gene are associated with epilepsy-aphasia spectrum disorders and developmental and epileptic encephalopathies. Associations have been linked with disorders, including autism spectrum disorder and Parkinson's disease. Recently, GRIN2A variants have been reported as a cause of movement disorders in individuals without epilepsy, suggesting that movement disorders should be highlighted as a genetic phenotype associated with pathogenic variants in GRIN2A. We present a case of a male with myoclonus dystonia and without epilepsy found on whole-exome sequencing to have a c.1880G > A; p.S627N variant in the GRIN2A gene. Our case contributes to the expanding phenotypic spectrum of GRIN2A-related disorders and highlights another genetic cause of the myoclonus-dystonia phenotype. GRIN2A should be considered a part of the differential diagnosis of myoclonus-dystonia in individuals with developmental delay without epilepsy.
{"title":"Myoclonus-Dystonia in an Individual with a Mutation in the GRIN2A Gene","authors":"Xena Al Qahtani, Trisha J. Multhaupt-Buell, N. Sharma, Marisela E Dy-Hollins","doi":"10.1055/s-0042-1756445","DOIUrl":"https://doi.org/10.1055/s-0042-1756445","url":null,"abstract":"Mutations in the GRIN2A gene are associated with epilepsy-aphasia spectrum disorders and developmental and epileptic encephalopathies. Associations have been linked with disorders, including autism spectrum disorder and Parkinson's disease. Recently, GRIN2A variants have been reported as a cause of movement disorders in individuals without epilepsy, suggesting that movement disorders should be highlighted as a genetic phenotype associated with pathogenic variants in GRIN2A. We present a case of a male with myoclonus dystonia and without epilepsy found on whole-exome sequencing to have a c.1880G > A; p.S627N variant in the GRIN2A gene. Our case contributes to the expanding phenotypic spectrum of GRIN2A-related disorders and highlights another genetic cause of the myoclonus-dystonia phenotype. GRIN2A should be considered a part of the differential diagnosis of myoclonus-dystonia in individuals with developmental delay without epilepsy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"84 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80822649","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. Güngör, Merve Öztürk, Adnan Deniz, Defne Alikılıç, Ö. Karaca, Y. Anık, B. Kara
Abstract Autoimmune encephalopathy (AE) is a group of diseases with subacute onset, that represents a wide clinical spectrum, manifested by complex neuropsychiatric symptoms and signs. In this study, the data of 27 patients diagnosed and followed up in our clinic with the diagnosis of AE between 2011 and 2021 were evaluated retrospectively. Out of 27 patients, 6 were definite seropositive AE, 2 of them met the diagnostic criteria for limbic encephalitis, and the remaining 19 were probable AE. Nowadays, we see AEs with increasing frequency. While there is a generally established approach in the diagnosis and treatment of seropositive patients, there are still hesitations and diagnostic difficulties in seronegative AEs. In this study, clinical, radiological, and prognostic features of definite and probable AE patients diagnosed in a tertiary pediatric neurology clinic were documented. It is thought that pediatric neurologists have an important responsibility to increase awareness about AE in pediatricians. In the future, it is predicted that AE will be diagnosed more frequently with new antibodies and one has to differentiate it from viral encephalitis and neuropsychiatric syndromes and diseases.
{"title":"Determination of Clinical, Electrophysiological, and Radiological Characteristics of Pediatric Autoimmune Encephalopathy","authors":"M. Güngör, Merve Öztürk, Adnan Deniz, Defne Alikılıç, Ö. Karaca, Y. Anık, B. Kara","doi":"10.1055/s-0043-1761485","DOIUrl":"https://doi.org/10.1055/s-0043-1761485","url":null,"abstract":"Abstract Autoimmune encephalopathy (AE) is a group of diseases with subacute onset, that represents a wide clinical spectrum, manifested by complex neuropsychiatric symptoms and signs. In this study, the data of 27 patients diagnosed and followed up in our clinic with the diagnosis of AE between 2011 and 2021 were evaluated retrospectively. Out of 27 patients, 6 were definite seropositive AE, 2 of them met the diagnostic criteria for limbic encephalitis, and the remaining 19 were probable AE. Nowadays, we see AEs with increasing frequency. While there is a generally established approach in the diagnosis and treatment of seropositive patients, there are still hesitations and diagnostic difficulties in seronegative AEs. In this study, clinical, radiological, and prognostic features of definite and probable AE patients diagnosed in a tertiary pediatric neurology clinic were documented. It is thought that pediatric neurologists have an important responsibility to increase awareness about AE in pediatricians. In the future, it is predicted that AE will be diagnosed more frequently with new antibodies and one has to differentiate it from viral encephalitis and neuropsychiatric syndromes and diseases.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"28 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78961554","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 Epidermoid tumors, which constitute 0.2 to 1.8% of primary intracranial neoplasms, occur in the third and fifth weeks of fetal development. Epidermoid tumors, which are known to occur most frequently in the cerebellopontine angle, are rarely located intraventricularly. A third ventricular location can be seen in 0.7% of cases. Epidermoid tumors are more common between the ages of 19 and 69, and are very rare in the pediatric period. In this report, we present a third ventricular epidermoid tumor in an 11 years old pediatric patient.
{"title":"Third Ventricular Epidermoid Tumor in a Pediatric Case","authors":"Muhammed Erkam Yuksek, Densel Arac, M. Erdi","doi":"10.1055/s-0042-1760194","DOIUrl":"https://doi.org/10.1055/s-0042-1760194","url":null,"abstract":"Abstract Epidermoid tumors, which constitute 0.2 to 1.8% of primary intracranial neoplasms, occur in the third and fifth weeks of fetal development. Epidermoid tumors, which are known to occur most frequently in the cerebellopontine angle, are rarely located intraventricularly. A third ventricular location can be seen in 0.7% of cases. Epidermoid tumors are more common between the ages of 19 and 69, and are very rare in the pediatric period. In this report, we present a third ventricular epidermoid tumor in an 11 years old pediatric patient.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"127 1","pages":"136 - 139"},"PeriodicalIF":0.2,"publicationDate":"2022-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76609795","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}
Coronavirus disease (COVID-19) is caused by a novel severe acute respiratory syndrome coronavirus 2 virus which primarily targets the lungs. However, the central nervous system (CNS) and peripheral nervous system involvement due to COVID-19, however, has been reported as early as the cases of respiratory system involvement. In addition, there have been many reports describing neuroimaging features of COVID-19, but data beyond case studies in the pediatric population are still limited, indicating limited CNS involvement. The CNS involvement and complications include, but are not limited to, encephalopathy, meningoencephalitis, ischemic stroke, venous sinus thrombosis, acute necrotizing encephalopathy, acute disseminated encephalomyelitis, posterior reversible encephalopathy syndrome, acute cerebellitis, acute hemorrhagic myelitis, and Guillain–Barré syndrome. In this manuscript, we will discuss the imaging characteristics of some of these entities with a known diagnosis of COVID-19.
{"title":"Nonvascular Nervous System Complications in Pediatric Patients with COVID-19 Infection","authors":"Figen Kocabıyık, K. Koral, S. Pruthi","doi":"10.1055/s-0042-1751264","DOIUrl":"https://doi.org/10.1055/s-0042-1751264","url":null,"abstract":"Coronavirus disease (COVID-19) is caused by a novel severe acute respiratory syndrome coronavirus 2 virus which primarily targets the lungs. However, the central nervous system (CNS) and peripheral nervous system involvement due to COVID-19, however, has been reported as early as the cases of respiratory system involvement. In addition, there have been many reports describing neuroimaging features of COVID-19, but data beyond case studies in the pediatric population are still limited, indicating limited CNS involvement. The CNS involvement and complications include, but are not limited to, encephalopathy, meningoencephalitis, ischemic stroke, venous sinus thrombosis, acute necrotizing encephalopathy, acute disseminated encephalomyelitis, posterior reversible encephalopathy syndrome, acute cerebellitis, acute hemorrhagic myelitis, and Guillain–Barré syndrome. In this manuscript, we will discuss the imaging characteristics of some of these entities with a known diagnosis of COVID-19.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"101 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79943976","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}
Kushagra Singh, Sham Lohiya, Richa D. Chaudhary, M. Lakra, Sachin Damke
Guillain–Barré Syndrome is an acute inflammatory demyelinating polyradiculoneuropathy that can present at any age. The presentation of Guillain–Barré syndrome may be variable as the classic symptoms of areflexia and flaccid paralysis may or may not be present. Here we reported a case of a 15-year-old male patient who presented with complaints of weakness in bilateral lower limbs with inability to sit along with slurred speech and drooling of saliva with positive meningeal signs like neck stiffness and Kernig's sign. His symptoms improved with immunoglobulin therapy. Five days later, the child again had pain and increased weakness with increased work of breathing for which repeat dose and course of immunoglobulins were given. As patients with signs of meningeal irritation may suggest other diseases such as meningitis, it is important to consider atypical cases of Guillain–Barré syndrome along with treatment-related fluctuations as observed in our patient.
{"title":"A Rare Case of Guillain–Barré Syndrome with Signs of Meningeal Irritation and Treatment-Related Fluctuations/Relapse","authors":"Kushagra Singh, Sham Lohiya, Richa D. Chaudhary, M. Lakra, Sachin Damke","doi":"10.1055/s-0042-1750790","DOIUrl":"https://doi.org/10.1055/s-0042-1750790","url":null,"abstract":"Guillain–Barré Syndrome is an acute inflammatory demyelinating polyradiculoneuropathy that can present at any age. The presentation of Guillain–Barré syndrome may be variable as the classic symptoms of areflexia and flaccid paralysis may or may not be present. Here we reported a case of a 15-year-old male patient who presented with complaints of weakness in bilateral lower limbs with inability to sit along with slurred speech and drooling of saliva with positive meningeal signs like neck stiffness and Kernig's sign. His symptoms improved with immunoglobulin therapy. Five days later, the child again had pain and increased weakness with increased work of breathing for which repeat dose and course of immunoglobulins were given. As patients with signs of meningeal irritation may suggest other diseases such as meningitis, it is important to consider atypical cases of Guillain–Barré syndrome along with treatment-related fluctuations as observed in our patient.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"36 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85478973","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}
Anna Scuderi, Adriana Prato, Daniela Dicanio, Giulia Spoto, V. Salpietro, G. Ceravolo, F. Granata, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, I. Ceravolo, E. Pironti, Greta Amore, G. Rosa
Abstract Joubert syndrome (JS) is a rare inherited disorder of central nervous system with neonatal/infantile onset, mainly affecting cerebellum and brainstem, and clinically characterized by agenesis or dysgenesis of the cerebellar vermis with accompanying brainstem malformations. More than 20 disease-causing genes have been associated with JS but a clear genotype–phenotype correlation has not been assessed yet. Diagnosis is usually confirmed by detection of the JS neuroradiological hallmark, the molar tooth sign. Patients with JS typically present with neurological manifestations, moreover, a heterogeneous spectrum of multisystemic anomalies may be observed. Signs and symptoms onset varies according to the age range and clinical diagnosis might become complicated. Moreover, specific neurodevelopmental disorders can be associated with JS such as autism spectrum disorders, attention deficit with hyperactivity, and a wide range of behavioral disturbances. Here, we examined the main neurological and neurodevelopmental features of JS according to an age-dependent mode of presentation. Furthermore, differential diagnosis with other neurological syndromes was closely reviewed.
{"title":"Age-Related Neurodevelopmental Features in Children with Joubert Syndrome","authors":"Anna Scuderi, Adriana Prato, Daniela Dicanio, Giulia Spoto, V. Salpietro, G. Ceravolo, F. Granata, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, I. Ceravolo, E. Pironti, Greta Amore, G. Rosa","doi":"10.1055/s-0042-1759539","DOIUrl":"https://doi.org/10.1055/s-0042-1759539","url":null,"abstract":"Abstract Joubert syndrome (JS) is a rare inherited disorder of central nervous system with neonatal/infantile onset, mainly affecting cerebellum and brainstem, and clinically characterized by agenesis or dysgenesis of the cerebellar vermis with accompanying brainstem malformations. More than 20 disease-causing genes have been associated with JS but a clear genotype–phenotype correlation has not been assessed yet. Diagnosis is usually confirmed by detection of the JS neuroradiological hallmark, the molar tooth sign. Patients with JS typically present with neurological manifestations, moreover, a heterogeneous spectrum of multisystemic anomalies may be observed. Signs and symptoms onset varies according to the age range and clinical diagnosis might become complicated. Moreover, specific neurodevelopmental disorders can be associated with JS such as autism spectrum disorders, attention deficit with hyperactivity, and a wide range of behavioral disturbances. Here, we examined the main neurological and neurodevelopmental features of JS according to an age-dependent mode of presentation. Furthermore, differential diagnosis with other neurological syndromes was closely reviewed.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"39 1","pages":"008 - 014"},"PeriodicalIF":0.2,"publicationDate":"2022-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85736956","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}
Adriana Prato, Anna Scuderi, Greta Amore, Giulia Spoto, V. Salpietro, A. Ceravolo, G. Farello, G. Iapadre, E. Pironti, Daniela Dicanio, G. Rosa
Abstract Epilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being reported only in 3% of cases. Few patients have been described, moreover, with poor evidences of specific seizures' semiology or standard of practice for pharmacological treatment. Epilepsy is likely to be related to brain malformations in ciliopathies. Beyond the typical hindbrain malformation, the molar tooth sign, other cerebral anomalies variably reported in JSRD, such as generalized polymicrogyria, hamartomas, periventricular nodular heterotopia, and hippocampal defects, have been described. Herein, we aimed to revise the main clinical and etiopathogenetic characteristics of epilepsy associated with JSRD.
{"title":"Epilepsy in Joubert Syndrome: A Still Few Explored Matter","authors":"Adriana Prato, Anna Scuderi, Greta Amore, Giulia Spoto, V. Salpietro, A. Ceravolo, G. Farello, G. Iapadre, E. Pironti, Daniela Dicanio, G. Rosa","doi":"10.1055/s-0042-1759540","DOIUrl":"https://doi.org/10.1055/s-0042-1759540","url":null,"abstract":"Abstract Epilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being reported only in 3% of cases. Few patients have been described, moreover, with poor evidences of specific seizures' semiology or standard of practice for pharmacological treatment. Epilepsy is likely to be related to brain malformations in ciliopathies. Beyond the typical hindbrain malformation, the molar tooth sign, other cerebral anomalies variably reported in JSRD, such as generalized polymicrogyria, hamartomas, periventricular nodular heterotopia, and hippocampal defects, have been described. Herein, we aimed to revise the main clinical and etiopathogenetic characteristics of epilepsy associated with JSRD.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"32 1","pages":"044 - 048"},"PeriodicalIF":0.2,"publicationDate":"2022-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73632309","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}
Alessio Mancuso, I. Ceravolo, C. Cuppari, A. Sallemi, M. Fusco, A. Ceravolo, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, Giovanni Conti
Abstract “Ciliopathies” are a group of genetic disorders described by the malformation or dysfunction of cilia. The disorders of ciliary proteins lead to a range of phenotype from organ-specific (e.g., cystic disease of the kidney, liver, and pancreas, neural tube defects, postaxial polydactyly, situs inversus, and retinal degeneration) to sketchily pleiotropic (e.g., Bardet-Biedl syndrome and Joubert syndrome). The mechanism below the disfunction of cilia to reach new therapeutic strategies.
{"title":"The Function and Role of the Cilium in the Development of Ciliopathies","authors":"Alessio Mancuso, I. Ceravolo, C. Cuppari, A. Sallemi, M. Fusco, A. Ceravolo, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, Giovanni Conti","doi":"10.1055/s-0042-1759533","DOIUrl":"https://doi.org/10.1055/s-0042-1759533","url":null,"abstract":"Abstract “Ciliopathies” are a group of genetic disorders described by the malformation or dysfunction of cilia. The disorders of ciliary proteins lead to a range of phenotype from organ-specific (e.g., cystic disease of the kidney, liver, and pancreas, neural tube defects, postaxial polydactyly, situs inversus, and retinal degeneration) to sketchily pleiotropic (e.g., Bardet-Biedl syndrome and Joubert syndrome). The mechanism below the disfunction of cilia to reach new therapeutic strategies.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"8 10","pages":"078 - 084"},"PeriodicalIF":0.2,"publicationDate":"2022-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72498917","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}
Greta Amore, Giulia Spoto, Anna Scuderi, Adriana Prato, Daniela Dicanio, A. Nicotera, G. Farello, R. Chimenz, I. Ceravolo, V. Salpietro, E. Gitto, G. Ceravolo, G. Iapadre, G. Rosa, E. Pironti
Abstract Bardet–Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. At least 21 different genes have been identified, all involved into primary cilium structure or function. To date, genotype–phenotype correlation is still poor.
{"title":"Bardet–Biedl Syndrome: A Brief Overview on Clinics and Genetics","authors":"Greta Amore, Giulia Spoto, Anna Scuderi, Adriana Prato, Daniela Dicanio, A. Nicotera, G. Farello, R. Chimenz, I. Ceravolo, V. Salpietro, E. Gitto, G. Ceravolo, G. Iapadre, G. Rosa, E. Pironti","doi":"10.1055/s-0042-1759534","DOIUrl":"https://doi.org/10.1055/s-0042-1759534","url":null,"abstract":"Abstract Bardet–Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. At least 21 different genes have been identified, all involved into primary cilium structure or function. To date, genotype–phenotype correlation is still poor.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"22 1","pages":"033 - 040"},"PeriodicalIF":0.2,"publicationDate":"2022-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81608912","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}
Giulia Spoto, E. Pironti, Greta Amore, Adriana Prato, Anna Scuderi, P. V. Colucci, I. Ceravolo, G. Farello, V. Salpietro, G. Iapadre, G. Rosa, Daniela Dicanio
Abstract Alström syndrome (ALMS) is a rare ciliopathy with pleiotropic and wide spectrum of clinical features. It is autosomal recessively inherited and associated with mutations in ALMS1 , a gene involved in cilia functioning. High clinical heterogeneity is the main feature of ALMS. Cone-rod dystrophy with blindness, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, hypertriglyceridemia, endocrine abnormalities, cardiomyopathy, and renal, hepatic, and pulmonary anomalies are the most common signs and symptoms.
{"title":"Alström's Syndrome: Neurological Manifestations and Genetics","authors":"Giulia Spoto, E. Pironti, Greta Amore, Adriana Prato, Anna Scuderi, P. V. Colucci, I. Ceravolo, G. Farello, V. Salpietro, G. Iapadre, G. Rosa, Daniela Dicanio","doi":"10.1055/s-0042-1759538","DOIUrl":"https://doi.org/10.1055/s-0042-1759538","url":null,"abstract":"Abstract Alström syndrome (ALMS) is a rare ciliopathy with pleiotropic and wide spectrum of clinical features. It is autosomal recessively inherited and associated with mutations in ALMS1 , a gene involved in cilia functioning. High clinical heterogeneity is the main feature of ALMS. Cone-rod dystrophy with blindness, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, hypertriglyceridemia, endocrine abnormalities, cardiomyopathy, and renal, hepatic, and pulmonary anomalies are the most common signs and symptoms.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"7 1","pages":"018 - 022"},"PeriodicalIF":0.2,"publicationDate":"2022-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91241802","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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