Autoantibody Associated Movement Disorders in Children: Proven and Proposed
Movement disorders secondary to autoantibodies in children represents a rapidly expanding group of conditions. Once considered to be limited to post streptococcal Sydenham ′s chorea or rare cases of childhood systemic lupus erythematosus, a variety of antibody-related movement abnormalities are now seen as part of non-infectious autoimmune encephalitis or within an expanding list of post-infectious disorders. In this manuscript, several proposed autoantibody mediate d movement disorders in children are reviewed. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 14, 2017 Category: Neurology Authors: Harvey S. Singer Source Type: research
A Neuroprimer: Principles of CNS Immunity
Despite longstanding perceptions, robust innate and adaptive immune responses occur within the central nervous system (CNS) in response to infection and tissue damage. Although necessary to control infection, immune responses can lead to severe CNS pathology in the context of both viral infection and autoimmunity. Research into how the central nervous and immune systems communicate has accelerated over the past 20 years leading to a better understanding of pathways controlling immune activation and neuroinflammation that have guided the approval of new disease-modifying therapies to treat CNS immunopathology, particularly ...
Source: Seminars in Pediatric Neurology - August 14, 2017 Category: Neurology Authors: Gregory P. Owens Source Type: research
Overview of Inflammation in Neurometabolic Diseases
Neuroinflammation is an intrinsic component of the neurodegeneration of inborn errors of neurometabolic diseases. Diseases resulting in lysosomal, peroxisomal, and autophagocytic disruption lead to neuroinflammation by different mechanisms relating to accumulated substrates and/or downstream deficiencies that cause presymptomatic microglial activation, axonal instabilities and/or direct hyperactivation of intrinsic inflammatory mechanisms. Only in selected diseases is the blood brain barrier breached, thereby permitting peripheral adaptive immune mechanisms to amplify intrinsic immune reactions in the central nervous syste...
Source: Seminars in Pediatric Neurology - August 14, 2017 Category: Neurology Authors: Gregory A. Grabowski Source Type: research
Promise, Progress, and Pitfalls in the Search for Central Nervous System Biomarkers in Neuroimmunological Diseases: A Role for Cerebrospinal Fluid Immunophenotyping
Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the “biomarker life-cycle” must be understood to avoid false-positive and false-negative results. Molecular biomarkers will revolutionize the treatment of neurologic diseases, but the rate of progress depends on a bold, visionary stance by neurologists, as well as scientists, biotech and pharmaceuti cal industries, funding agencies, and regulators. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 11, 2017 Category: Neurology Authors: Bibiana Bielekova, Michael R. Pranzatelli Source Type: research
Promise, Progress, and Pitfalls in the Search for CNS Biomarkers in Neuroimmunological Diseases: A Role for CSF Immunophenotyping
Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the “biomarker life-cycle” must be understood to avoid false-positive and false-negative results. Molecular biomarkers will revolutionize the treatment of neurological diseases, but the rate of progressdepends on a bold, visionary stance by neurologists, as well as scientists, biotech and pharmaceut ical industries, funding agencies, and regulators. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 11, 2017 Category: Neurology Authors: Bibiana Bielekova, Michael R. Pranzatelli Source Type: research
The More Things Change … Child Neurology in the Age of Next-Generation Sequencing
As a medical student in the 1970s, I was taught (by nonneurologists) that computerized tomography of the brain would soon eliminate the need for neurologists. As it happened, the occurrence of unrecognized anatomical variants and unexplained changes in density of brain parenchyma led to an increase in requests for neurologic consultations. A thorough history and examination would generally permit reassurance of the child and family. The advent of magnetic resonance imaging initiated a similar cycle of predictions that neurologists would be superseded by these more sophisticated imaging machines, only to find that our servi...
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Marc C. Patterson Source Type: research
Dominant Optic Atrophy and Leber ’s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches
Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments, and ongoing clinical trials of these two optic neuropathies. Substantial progress has been made in the understanding of the clinical, genetic, and pathophysiological basis of DOA and LHON. Pathogenic OPA1 gene mutations in DOA and 3 primary mutations of mitochondrial DNA in LHON-induced mitochondrial dysfunction, which in turn leads to increase...
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Bo Young Chun, Joseph F. Rizzo Source Type: research
The More Things Change … Child Neurology in the Age of Next-Generation Sequencing
As a medical student in the 1970s, I was taught (by nonneurologists) that computerized tomography of the brain would soon eliminate the need for neurologists. As it happened, the occurrence of unrecognized anatomical variants and unexplained changes in density of brain parenchyma led to an increase in requests for neurologic consultations. A thorough history and examination would generally permit reassurance of the child and family. The advent of magnetic resonance imaging initiated a similar cycle of predictions that neurologists would be superseded by these more sophisticated imaging machines, only to find that our servi...
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Marc C. Patterson Source Type: research
Dominant Optic Atrophy and Leber ′s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches
Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments and ongoing clinical trials of these two optic neuropathies. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Bo Young Chun, Joseph F. Rizzo Source Type: research
The More Things Change … Child Neurology in the Age of Next Generation Sequencing
As a medical student in the 1970s, I was taught (by non-neurologists) that computerized tomography of the brain would soon eliminate the need for neurologists. As it happened, the occurrence of unrecognized anatomic variants and unexplained changes in density in the brain parenchyma led to an increase in requests for neurologic consultations. A thorough history and examination would generally permit reassurance of the child and family. The advent of MRI initiated a similar cycle of predictions that neurologists would be superseded by these more sophisticated imaging machines, only to find that our services were required ev...
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Marc C. Patterson Source Type: research
A 15-Year-Old Boy With Refractory Status Epilepticus
In this case report, we discuss a 15-year-old previously healthy boy who presented with acute onset encephalopathy with refractory status epilepticus requiring pentobarbital-induced burst suppression for seizure control. We review the differential diagnosis and important diagnostic considerations for pediatric patients presenting with acute encephalopathy. We then review Hashimoto encephalopathy (SREAT) and discuss presentation, diagnosis, and treatment. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 14, 2017 Category: Neurology Authors: Nikita Malani Shukla, Sarah Risen Source Type: research
A 15 Year Old Male with Refractory Status Epilepticus
In this case report, we discuss a 15 year old previously healthy male who presented with acute onset encephalopathy with refractory status epilepticus requiring pentobarbital-induced burst suppression for seizure control. We review the differential diagnosis and important diagnostic considerations for pediatric patients presenting with acute encephalopathy. We then review Hashimoto ′s Encephalopathy (SREAT) and discuss presentation, diagnosis, and treatment. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 14, 2017 Category: Neurology Authors: Nikita Malani Shukla, Sarah Risen Source Type: research
Atypical Presentation of a Progressive and Treatable Encephalopathy in an Older Child With Gelastic and Dacrystic Seizures
We discuss an unusual case of a teenage boy who presented with waxing and waning cognitive decline and gelastic-dacrystic seizures, evolving later into a rapidly progressive encephalopathy with status epilepticus. Extensive genetic and metabolic testing did not lead to a specific diagnosis. Cerebrospinal fluid studies performed during admission to the intensive care unit provided the information needed to establish a diagnosis. After implementation of specific treatment, his seizures stopped and his background electroencephalogram returned to normal. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 23, 2017 Category: Neurology Authors: Jorge Vidaurre, Sunjay Nunley Source Type: research
A Newborn With Hyperlactatemia and Epileptic Encephalopathy
The etiology of hyperlactatemia in newborns could be a challenging diagnosis. In this article we are discussing a diagnostic paradigm using the clinical history, laboratory results, and brain imaging that could be helpful in directing the work up. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 23, 2017 Category: Neurology Authors: Rawad Obeid, Yoshimi Sogawa, Monica Naik, Amy Goldstein, Andrea Gropman, Miya Asato Source Type: research
