Journal of pediatric neurology最新文献

{"title":"Malformations of the Spinal Cord: From Genetics to Diagnosis and Rehabilitation","authors":"Giovanni Cacciaguerra, Federica Dierna, Antonio Zanghì, Michele Vecchio, E. Praticò, Giuliana La Rosa, Stefano Palmucci, Giuseppe Belfiore, Antonio Basile, Martino Ruggieri, A. Polizzi","doi":"10.1055/s-0044-1788648","DOIUrl":"https://doi.org/10.1055/s-0044-1788648","url":null,"abstract":"Spinal cord malformations, known as “spinal dysraphisms” encompass a diverse range of spinal abnormalities characterized by incomplete median closure of mesenchymal, bone, and nervous tissues. They are classified as “open,” involving both the spinal cord and overlying tissues, or “occult,” affecting only nervous system structures. Neurulation abnormalities along the neural tube, from the rostral to the caudal portions, primarily cause these malformations. Clinical presentations vary, including cutaneous manifestations like hemangiomas, dimples, hair tufts, and scoliosis. “Tethered cord syndrome,” often associated with these malformations, manifests as a clinical syndrome rather than a primary anomaly. Newborns are typically asymptomatic, with malformations often identified by associated skin abnormalities. Older children may experience pain, sensory/motor disturbances, urinary/anal sphincter abnormalities, and muscle weakness affecting mobility. Neuroimaging, crucial for diagnosis and treatment planning, includes ultrasound, CT, and MRI. Surgical intervention, tailored to specific malformation subtypes, may involve the repair of myelomeningocele soon after birth or conservative management for asymptomatic occult dysraphism. Rehabilitation encompasses physical, occupational, recreational, and speech therapies. Prevention is paramount, emphasizing the role of health care professionals in prenatal care and education. This review aims to provide a systematic classification of spinal cord malformations to aid clinicians in diagnosis and management.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141923598","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}

{"title":"Anterior Cutaneous Neurectomy—Child's Play?","authors":"Srivatsan Thirumalai Vasu, Sudish Karunakaran, Gangadharan V. P., Arun Oommen, Ajay Kumar Ajanvi, Anil Chiluka, Govind Gangadharan, Renu Paul","doi":"10.1055/s-0044-1788341","DOIUrl":"https://doi.org/10.1055/s-0044-1788341","url":null,"abstract":"Chronic abdominal pain (CAP) is a common entity in the pediatric population and has an extensive differential diagnosis. Anterior cutaneous nerve entrapment syndrome (ACNES) is an etiology that is not often diagnosed and requires an individualized approach. Treatment options for ACNES include nonsurgical and surgical, often a graded approach is used. A 12-year-old boy presented with CAP, and was extensively evaluated as well as underwent multiple abdominal surgeries. He was eventually diagnosed with ACNES and underwent a trial conservative management. Although he initially showed improvement, his pain returned. He later underwent a neurectomy procedure with significant postoperative relief. The patient experienced significant relief postprocedure. He experienced up to 70% relief in pain in the immediate postoperative period and at the end of 3 months, pain was completely absent. The patient was able to return to all his activities including active sports. The diagnosis and management of ACNES is a challenging condition, but this report seeks to highlight its importance as an unusual cause. Literature on the management of this condition is scarce, making it difficult to make informed decisions. Surgical neurectomy is seen as a favored procedure for children with moderate-good pain relief, especially for those who do not respond satisfactorily to local blocks.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141922460","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}

{"title":"Comparison Efficacy of Phenobarbital versus Levetiracetam in Acute Neonatal Seizures: A Randomized Control Trial","authors":"Alireza Saadati, Narges Kalhor, Sara Afshari, Masoud Hassanvand Amouzadeh, Mansoreh Saffari, Mohsen Mollamohamadi","doi":"10.1055/s-0044-1788054","DOIUrl":"https://doi.org/10.1055/s-0044-1788054","url":null,"abstract":"Seizures in infancy are one of the main manifestations of disorders in the central nervous system that can have important etiologies. The development of anticonvulsant drugs and the importance of drug selection in infants, due to more complex underlying etiologies, compared with older ages, explicate the essentiality of executing clinical investigations to appraise the optimal therapeutic approach. The objective of the current investigation is to juxtapose two therapeutic approaches involving intravenous levetiracetam and intravenous phenobarbital in the management of neonatal seizures. This is a randomized controlled clinical trial study on 100 infants who were referred to the Hazrat Masoumeh (S) Hospital in Qom owing to convulsions. Infants with seizure who fulfilled the inclusion criteria were arbitrarily allocated to one of the two intervention cohorts: intravenous levetiracetam or intravenous phenobarbital, and therapeutic responses were compared. There was a substantial relationship between seizure time, seizure etiology, anticonvulsant therapy type, and treatment responsiveness. As a result, the risks of not responding to therapy and increasing the dose were approximately 6 and 5 times higher, respectively, in the group that experienced seizures in the fourth week than in the other groups. Infants with cerebrovascular anomalies were more prone to not responding to treatment. Furthermore, children administered phenobarbital had a 2.5-fold higher chance of not responding to treatment than those given levetiracetam (p = 0.043).","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141835358","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}

{"title":"A Middle-Aged Patient Living with HIV (PLHIV), Presented with Persistent Hiccups, Imbalance, and Multifocal Myoclonus Secondary to Disseminated Tuberculosis","authors":"T. Vidhale, Rohan Prafulla Jaya, Minal Pande, Mohammad Arfat Ganiyani","doi":"10.1055/s-0044-1782542","DOIUrl":"https://doi.org/10.1055/s-0044-1782542","url":null,"abstract":"A middle aged male presented with chronic diarrhoea, persistent hiccups and unsteadiness while walking. His illness had subacute onset and progressive course. Clinically patient had cachexia, pallor, oral thrush and hepatosplenomegaly. On neurological examination, he had fine tremors, gait ataxia, and multifocal myoclonus. Investigations revealed normochromic normocytic anemia, transaminitis, hyponatremia and cerebrospinal fluid pleocytosis(lymphocytic predominance). Brain MRI revealed diffuse patchy meningeal enhancement; CECT abdomen showed circumferential bowel wall thickening, hepatosplenomegaly and necrotic lymphadenopathy. CECT chest exhibited mediastinal lymphadenopathy alongwith centrilobular nodular opacities. Sputum GeneXpert® was positive for mycobacterium tuberculosis with sensitivity to rifampicin. His serology for human immunodeficiency virus was positive. He was diagnosed as disseminated tuberculosis with tuberculer meningitis which caused persistent hiccups, gait abnormaliy and multifocal myoclonus. His symptom resolved with anti tubercular therapy. We aim to highlight here that myoclonus is a rare occurrence with tubercular meningitis.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141661086","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}

{"title":"Spontaneous Simultaneous Bilateral Intraparenchymal Hemorrhage in a Child with Sickle Cell Disease","authors":"Adelaide Valluzzi, Julian S. Rechberger, Elena Millesi, Corrado Iaccarino, Lucio Lucchesi, Giovanni Palazzi, Francesca Cavalleri, Giacomo Pavesi","doi":"10.1055/s-0044-1787854","DOIUrl":"https://doi.org/10.1055/s-0044-1787854","url":null,"abstract":"Sicklecelldisease(SCD)isthemostcommontypeofhereditary anemia with a particularly high prevalence in sub-Saharan Africa. More than 230,000 children are affected in this geo-graphicalregioneveryyear,makingup80%oftheglobaltotal. 1 SCD is characterized by the abnormal polymerization of the β - globinprotein, resulting in obstructiontothemicrocirculation and tissue hypoxia. Cerebral hemorrhage is quite uncommon, with an incidence ranging from 0.5 to 2%. Cerebrovascular complications contribute signi fi cantly to the morbidity and mortality of the disease. 2 – 4 Variable risk factors include acute hypertension, blood transfusion, use of steroids","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141678531","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}

{"title":"Paroxysmal Kinesigenic Dyskinesia Secondary to Novel Variant in PRRT2: A Case Report","authors":"J. M. Altamirano, Eduardo López-Ortiz, Armando Armas-Salazar, Karla Salinas-Barboza","doi":"10.1055/s-0044-1787193","DOIUrl":"https://doi.org/10.1055/s-0044-1787193","url":null,"abstract":"Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by frequent, brief episodes of choreiform or dystonic movements, often triggered by voluntary movement or a startle sensation. Here, we report a case of PKD associated with a novel variant in PRRT2 gene. A 19-year-old male with no medical history presented with hyperkinetic movement disorder symptoms consistent with PKD. Clinical evaluation, laboratory studies, and genetic testing were performed to confirm the diagnosis. Treatment with carbamazepine was initiated, and the patient's response was monitored over a 9-month period. The patient exhibited classic clinical criteria for PKD, including brief episode duration, an identified kinesigenic trigger, and responsiveness to pharmacological treatment. Genetic testing revealed a pathogenic variant in PRRT2 gene not previously reported in association with PKD. Treatment with carbamazepine led to complete resolution of symptoms, with sustained improvement observed during follow-up. This case highlights the importance of considering PKD in the differential diagnosis of hyperkinetic movement disorders and emphasizes the role of genetic testing in confirming the diagnosis. Furthermore, it underscores the efficacy of carbamazepine in managing PKD symptoms associated with PRRT2 gene. Further research is warranted to elucidate the underlying pathophysiological mechanisms and optimize treatment strategies for PKD.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141270797","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}

{"title":"Clinical Response of Levodopa in CTNNB1-Related Dystonia","authors":"A. Revert Barberà, Loreto Martorell, Cristina Boix, Judith Armstrong, Laura Carrera, Andrés Nascimento, J. Ortigoza-Escobar","doi":"10.1055/s-0044-1787194","DOIUrl":"https://doi.org/10.1055/s-0044-1787194","url":null,"abstract":"β-catenin, which is encoded by the CTNNB1 gene, is essential for the development and functioning of the brain. There are a few documented cases of dystonia related to CTNNB1. Here, we report the case of an 11-year-old Spanish boy referred for movement disorders and gait disturbance. He had motor developmental delay and achieved unassisted walking at 3 years, with a tiptoe gait and valgus foot posture requiring ankle-foot orthoses. Blood tests showed elevated creatine kinase levels (1684 U/L, normal range 62–235). Molecular analysis revealed a deletion in exons 3-9 of the DMD gene, leading to the diagnosis of Becker muscular dystrophy. By age 8, he presents frequent falls due to a dystonic posture of the feet and abnormal movements in the upper and lower limbs. Whole-exome sequencing revealed a novel heterozygous, de novo pathogenic frameshift variant in the CTNNB1 gene (NM_001098209.1):p.Thr297fs/ c.889dupA. Treatment with levodopa/carbidopa (5.3 mg/kg/day) led to a partial clinical improvement, including a decrease in dystonia, measured by the Burke-Fahn-Marsden Dystonia Rating Scale, and choreic movements in all four limbs. We suggest that levodopa contributes to motor improvement in patients with CTNNB1-related dystonia, supporting its inclusion in the differential diagnosis of childhood dopa-responsive dystonia.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141271537","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}

{"title":"At the Origin of Brain Malformations: Embryology of the Central and Peripheral Nervous System","authors":"Paola Cavallaro, Michela Leotta, Daria La Cognata, Federica Dierna, Valeria Fichera, Michele Vecchio, Agata Polizzi, A. Praticò, P. Castrogiovanni, Giuseppe Musumeci, Michelino Di Rosa, Rossella Imbesi","doi":"10.1055/s-0044-1786777","DOIUrl":"https://doi.org/10.1055/s-0044-1786777","url":null,"abstract":"Development of the central nervous system is a time-ordered and multistepped process that begins in the third week of development and continues after birth. Understanding of its normal embryologic development is fundamental to understand how specific malformations develop. This article provides a summary of human brain development and serves as a base to introduce the various malformations presented in this issue.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140984454","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}

{"title":"Cerebral Malformations Related to Coronavirus Disease 2019 during Pregnancy","authors":"S. Presti, Federica Dierna, Antonio Zanghì, Michele Vecchio, Salvatore Lavalle, E. Praticò, Martino Ruggieri, A. Polizzi","doi":"10.1055/s-0044-1786785","DOIUrl":"https://doi.org/10.1055/s-0044-1786785","url":null,"abstract":"The pandemic of severe-acute-respiratory-syndrome-related coronavirus (SARS-Cov-2) has shown a wide spectrum of possible consequences in children, ranging from asymptomatic patients to the development of severe conditions, such as multisystem inflammatory syndrome in children and encephalopathies related to cytokine storm. Specifically, neurological and neuroimaging abnormalities, ranging from mild-to-the severe ones, have been documented in children as well, such as postinfectious immune-mediated acute disseminated encephalomyelitis, myelitis, neural enhancement, cranial nerve enhancement, and cortical injury, also without neurological symptoms. Considering the neurotropism of coronaviruses and SARS-Cov-2, which has been well described in the literature, we reviewed the literature reporting possible cerebral malformation in neonates due to the infection of SARS-Cov-2 in pregnancy. Coronavirus disease 2019 (COVID-19) during pregnancy might develop cerebral disorders in several ways. Articles in English in the literature were screened using the following search terms: (1) “brain malformations” AND “COVID-19”; (2) “cerebral malformations” AND “COVID-19”; (3) brain malformations AND “Sars-Cov-2”; (4) “cerebral malformations “AND “Sars-Cov-2.” Considering the congenital brain malformation found in newborns exposed to infection of SARS-Cov-2 pre- or neonatally, we identified one paper which reported three neonates with cerebral malformation. Although sporadic, cerebral malformations like atypical signals in white matter with delayed myelination, brain dysplasia/hypoplasia with delayed myelination, and unusual signals in the periventricular regions have been documented.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140982983","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}

{"title":"Schizencephaly: Etiopathogenesis, Classification, Therapeutic, and Rehabilitative Approach","authors":"Monica Tosto, Valeria Fichera, Antonio Zanghì, A. Praticò, Michele Vecchio, Stefano Palmucci, Giuseppe Belfiore, Pietro Foti, Claudia Di Napoli, A. Polizzi","doi":"10.1055/s-0044-1786793","DOIUrl":"https://doi.org/10.1055/s-0044-1786793","url":null,"abstract":"Schizencephaly is an uncommon anomaly in neuronal migration characterized by complete clefts that extend from the pia mater to the ependymal surface of the ventricular system. These clefts are encompassed by displaced gray matter and filled with cerebrospinal fluid. Typically, they are found most often in the frontal lobe or the area around the lateral sulcus and can occur on one or both sides. The size, location, and type of these clefts carry significant clinical and prognostic implications. Moreover, they are frequently associated with other central nervous system malformations, including the absence of the septum pellucidum, septo-optic dysplasia, optic nerve hypoplasia, pachygyria, polymicrogyria, cortical dysplasia, heterotopia, and dysplasia of the corpus callosum. Occurrence of schizencephaly is almost always sporadic but its etiopathogenesis is yet to be fully understood. Most likely environmental factors, including exposure to teratogens, viral infections, and maternal factors, operate jointly with genetic defects. To date COL4A1, EMX2, SHH, and SIX3 are the genes identified as possible pathogenetic target. It is interesting to notice that schizencephaly is commonly seen in abandoned or adopted children, as proof of causative effect of intrautero insults. Clinical presentations widely vary and symptoms include a spectrum of cognitive impairment, limb paresis/tetraparesis, and epileptic seizures either with early or late onset; anyway, none of these symptoms is ever-present and patients with schizencephaly can also have normal neurocognitive and motor development. Diagnostic gold standard for schizencephaly is magnetic resonance imaging, which allows to identify and characterize typical clefts. Treatment of schizencephaly is symptomatic and supportive and depends on the severity of morbidity resulting from the malformation. Therapy includes antiepileptic drugs, psychomotor rehabilitation, and in selected cases surgical approach.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140988156","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}