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

Status Epilepticus —The Hunt for Treatable Causes
Working my way through medical school and pediatric neurology residency, I was frequently asked why anyone would choose a career in child neurology, and —“it׳s so depressing” or “you can׳t cure these children”—were the typical comments. My response at that time, adopted from an admired senior colleague who specialized in pediatric neuromuscular disease, was that there are indeed numerous instances where we can successfully treat and so metimes cure these neurologic disorders, and even when this may not be possible, the ability to make a very meaningful impact in these families׳ lives ...
Source: Seminars in Pediatric Neurology - May 23, 2017 Category: Neurology Authors: Eric T. Payne 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. CSF 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 EEG 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
Hyperlactatemia with encephalopathy in newborns can be attributed to multiple causes. A neonate with an epileptic encephalopathy caused by mutation of Arginyl tRNA synthetase (RARS2) gene was found to have hyperlactatemia. We propose a clinical paradigm for evaluation of hyperlactatemia in neonates utilizing clinical and radiological findings. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 23, 2017 Category: Neurology Authors: Rawad Obeid, Andrea Gropman, Monica Naik, Amy Goldstein, Yoshimi Sogawa, Miya Asato Tags: Case Studies issue Source Type: research

Juvenile Macular Degenerations
In this paper we review three common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography (OCT) imaging, and genetic testing. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 23, 2017 Category: Neurology Authors: Pablo Altschwager, Lucia Ambrosio, Emily A. Swanson, Anne Moskowitz, Anne B. Fulton Tags: Pediatric Neuro-Ophthalmology Source Type: research

Status Epilepticus – The Hunt for Treatable Causes
Working my way through medical school and pediatric neurology residency, I was frequently asked why anyone would choose a career in child neurology - “it′s so depressing” or “you can′t cure these children” – were typical comments. My response at the time, adopted from an admired senior colleague who specialized in pediatric neuromuscular disease, was that there are indeed numerous instances where we can successfully treat and someti mes cure these neurological disorders, and even when this may not be possible, the ability to make a very meaningful impact in these families lives, wa...
Source: Seminars in Pediatric Neurology - May 23, 2017 Category: Neurology Authors: Eric T. Payne Source Type: research

Introduction
The field of pediatric neuro-ophthalmology is wide-ranging and the disease processes encompass those that have the potential to adversely affect the dynamics of visual and oculomotor development. Clinicians must become familiar not only with conditions that uniquely present in childhood, but also with those that occur in children and adults. In the latter, the pediatric specialist is charged with recognizing those characteristics that distinguish the pediatric form of a disease from the adult manifestation of the same condition. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 1, 2017 Category: Neurology Authors: Gena Heidary Source Type: research

Editorial Comment: Brown-Vialetto-Van Laere and the Advances in Molecular Medicine
Brown-Vialetto-Van Laere syndrome is just one example of a disease known for over a century with no effective treatment where the recent identification of the gene defect brings to light the possibility of new therapeutic targets. Fundamental to the rational approach to therapy is the understanding of the genetic and or molecular pathophysiology of a disease. Once this is understood, even to a limited degree, a number of targets for potential therapeutic intervention can be identified. Usually these are targets, which would not be intuitive to the physician otherwise. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial: A Terrible Time
This “Case Study” is very much different than the others included in this issue. Lyle Knutson was a college classmate of mine. At a recent class reunion Linda Knutson Strand, Lyle’s sister married to another classmate of mine told me about the episode of polio her brother endured and how it affecte d the entire family. I remember other children that I knew who also had polio and the polio epidemic of the early 1950s was an event in this country worthy of being remembered. I think the piece also serves to remind us of how things were in rural Minnesota in the early 1950s. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial (To Follow Cases #9-12)
The 4 case reports just presented can be interpreted in a number of ways. It might seem, on the surface that we are approaching the point where the traditional, systematic approach to neuromuscular disease evaluation is obsolete and the physician needs only to send a blood test to make the appropriate diagnosis. The problem is in knowing which test to send. It would be desirable to send a single inexpensive and definitive test to make a diagnosis if one knew which one would give the definitive answer. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial to Follow Case #21 Regarding Cases #14-21
The last several cases have demonstrated the essence of the value of the published case report. They describe rare or unusual cases, atypical findings in well-known diseases, and serve to remind us of the fact that complications of diseases that we have known for decades are still possible and perhaps increasingly so because of the mobility of people from one place to another. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial Comment: Case #26 Hypothalamic Hamartoma and Infantile Spasms
This case is a very nice review of many of the aspects of the treatment of hypothalamic hamartomata by the group at the Barrow Neurological Institute. Dr Kerrigan has seen and managed more of these rare lesions perhaps than anybody in the world. This is a rare disease but with the advent of wide spread use of the internet, the community of parents and patients is worldwide and for a decade the Barrow was the place to go for the surgical management of this condition. The clinical features are quite variable and the types of seizures are also quite variable with the most consistent feature being lack of response to anti-epil...
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial Comment: Cases #27-31
These last cases are certainly not the least. Cases 27 and 28 demonstrate conditions that have arisen out of the intensive management of other diseases. We are going to be seeing more of these complications as we increase the number of children with extended or long-term survival as a result of neurointensive care and more effective cancer therapies. When I was a medical student, the survival of a child with acute lymphocytic leukemia was less than 10%. By the time I finished residency the survival rate from the same disease was greater than 90%. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Introduction to the Issue
This issue is the sixth case studies issue of the Seminars in Pediatric Neurology. The publication of interesting, unique, or instructive cases is a long standing tradition in medical education. The recent proliferation of medical and subspecialty journals has made it impossible for any physician, no matter how much of a Renaissance physician he or she may be, to keep up with the proliferation of new gene and new phenotype descriptions relative to the clinical practice of child neurology. I believe this avalanche of information is one (only one of many) of the drivers of the tendency for a practitioner to limit the scope o...
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial Comment: Case #26 Hypothalamic Hamartoma and Infantile Spasms
This case is a very nice review of many of the aspects of the treatment of hypothalamic hamartomata by the group at the Barrow Neurological Institute. Dr Kerrigan has seen and managed more of these rare lesions perhaps than anybody in the world. This is a rare disease but with the advent of wide spread use of the internet, the community of parents and patients is worldwide and for a decade the Barrow was the place to go for the surgical management of this condition. The clinical features are quite variable and the types of seizures are also quite variable with the most consistent feature being lack of response to anti-epil...
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial Comment: Brown-Vialetto-Van Laere and the Advances in Molecular Medicine
Brown-Vialetto-Van Laere syndrome is just one example of a disease known for over a century with no effective treatment where the recent identification of the gene defect brings to light the possibility of new therapeutic targets. Fundamental to the rational approach to therapy is the understanding of the genetic and or molecular pathophysiology of a disease. Once this is understood, even to a limited degree, a number of targets for potential therapeutic intervention can be identified. Usually these are targets, which would not be intuitive to the physician otherwise. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial (To Follow Cases #9-12)
The 4 case reports just presented can be interpreted in a number of ways. It might seem, on the surface that we are approaching the point where the traditional, systematic approach to neuromuscular disease evaluation is obsolete and the physician needs only to send a blood test to make the appropriate diagnosis. The problem is in knowing which test to send. It would be desirable to send a single inexpensive and definitive test to make a diagnosis if one knew which one would give the definitive answer. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial to Follow Case #21 Regarding Cases #14-21
The last several cases have demonstrated the essence of the value of the published case report. They describe rare or unusual cases, atypical findings in well-known diseases, and serve to remind us of the fact that complications of diseases that we have known for decades are still possible and perhaps increasingly so because of the mobility of people from one place to another. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial Comment: Cases #27-31
These last cases are certainly not the least. Cases 27 and 28 demonstrate conditions that have arisen out of the intensive management of other diseases. We are going to be seeing more of these complications as we increase the number of children with extended or long-term survival as a result of neurointensive care and more effective cancer therapies. When I was a medical student, the survival of a child with acute lymphocytic leukemia was less than 10%. By the time I finished residency the survival rate from the same disease was greater than 90%. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial Comment: BVVL and the Advances in Molecular Medicine
BVVL or Brown-Vialetto-Van Laere syndrome is just one example of a disease known for over a century with no effective treatment where the recent identification of the gene defect brings to light the possibility of new therapeutic targets. Fundamental to the rational approach to therapy is the understanding of the genetic and or molecular pathophysiology of a disease. Once this is understood, even to a limited degree, a number of targets for potential therapeutic intervention can be identified. Usually these are targets which would not be intuitive to the physician otherwise. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Tags: Case Studies issue Source Type: research

Editorial: A Terrible Time
This “Case Study” is very much different than the others included in this issue. Lyle Knutson was a college classmate of mine. At a recent class reunion Linda Knutson Strand, Lyle′s sister married to another classmate of mine told me about the episode of polio her brother endured and how it affecte d the entire family. I remember other children that I knew who also had polio and the polio epidemic of the early 50s was an event in this country worthy of being remembered. I think the piece also serves to remind us of how things were in rural Minnesota in the early 1950s. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial (To follow Cases #9, -12)
The four case reports just presented can be interpreted in a number of ways. It might seem, on the surface, that we are approaching the point where the traditional, systematic approach to neuromuscular disease evaluation is obsolete and the physician needs only to send a blood test for to make the appropriate diagnosis. The problem is in knowing which test to send. It would be desirable to send a single inexpensive and definitive test to make a diagnosis if one knew which one would give the definitive answer. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial to follow case #21 regarding cases #14 –21
The last several cases have demonstrated the essence of the value of the published case report. They describe rare or unusual cases, atypical findings in well-known diseases and serve to remind us of the fact that complications of diseases that we have known for decades are still possible and perhaps increasingly so because of the mobility of people from one place to another. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Editorial Comment Case #26 Hypothalamic Hamartoma and Infantile Spasms
This case is a very nice review of many of the aspects of the treatment of Hypothalamic Hamartomata by the group at the Barrow Neurological Institute. Dr. Kerrigan has seen and managed more of these rare lesions perhaps than anybody in the world. This is a rare disease but with the advent of wide spread use of the internet, the community of parents and patients is world wide and for a decade the Barrow was the place to go for the surgical management of this condition. The clinical features are quite variable and the types of seizures are also quite variable with the most consistent feature being lack of response to AEDs. (...
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Tags: Case Studies issue Source Type: research

Editorial Comment Cases #27 –31
These last cases are certainly not the least. Cases 27 and 28 demonstrate conditions that have arisen out of the intensive management of other diseases. We are going to be seeing more of these complications as we increase the number of children with extended or long-term survival as a result of neuro-intensive care and more effective cancer therapies. When I was a medical student, the survival of a child with acute lymphocytic leukemia was less than 10%. By the time I finished residency the survival rate from the same disease was greater than 90%. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Introduction to the Issue
John B. Bodensteiner, M.D. Guest Editor Case Study Issue, Seminars in Pediatric Neurology (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 19, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

A Case of An Unusual Bell ’s Palsy Mimic
We discuss the case of a 5-year-old boy who presented with an isolated left-sided cranial nerve 7 palsy that was initially magnetic resonance imaging negative. Owing to continued symptoms, repeat magnetic resonance imaging was performed and showed a temporal bone encephalocele. A review of the differential diagnosis of cranial nerve 7 palsy, warning signs signaling the need for additional workup, and a discussion of temporal lobe encephaloceles is provided in this case report. It is important to recognize that structural lesions can closely mimic idiopathic Bell ’s palsy, despite initial negative imaging. (Source: Se...
Source: Seminars in Pediatric Neurology - April 14, 2017 Category: Neurology Authors: Alexandria L. Lutley, Shannon M. Standridge Source Type: research

Diplopia With Dural Fibrotic Thickening
Idiopathic hypertrophic pachymeningitis (HP) is a rare disorder of diffuse thickening of the cranial or spinal dura mater without an identifiable cause. Most common in adult males, idiopathic HP typically presents with headache with or without varied associated focal neurologic deficits and findings of dural enhancement on magnetic resonance imaging in a linear, nodular, or combined pattern. As it is felt to be an autoimmune disorder, treatment with high-dose corticosteroids is typically recommended, and without intervention, the course is usually progressive. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 14, 2017 Category: Neurology Authors: Brittany Brand, Dave Somers, Blake Wittenberg, Jessica Gautreaux, Stephen Deputy Source Type: research

The Terrible Summer of 1952 … When Polio Struck Our Family
This is the story of my twin brother's struggle with polio. The story reflects the thoughts and feelings of Lyle and members of his family and describes how we all coped with the event. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 14, 2017 Category: Neurology Authors: Linda Knutson Strand Source Type: research

A Case of An Unusual Bell ’s Palsy Mimic
We discuss the case of a 5-year-old boy who presented with an isolated left-sided cranial nerve 7 palsy that was initially magnetic resonance imaging negative. Owing to continued symptoms, repeat magnetic resonance imaging was performed and showed a temporal bone encephalocele. A review of the differential diagnosis of cranial nerve 7 palsy, warning signs signaling the need for additional workup, and a discussion of temporal lobe encephaloceles is provided in this case report. It is important to recognize that structural lesions can closely mimic idiopathic Bell ’s palsy, despite initial negative imaging. (Source: Se...
Source: Seminars in Pediatric Neurology - April 14, 2017 Category: Neurology Authors: Alexandria L. Lutley, Shannon M. Standridge Source Type: research

A case of an unusual Bell ′s Palsy mimic
We discuss the case of five-year-old male who presented with an isolated left-sided cranial nerve seven palsy that was initially MRI negative. Due to continued symptoms, repeat MRI was performed and showed a temporal bone encephalocele. A review of the differential diagnosis of cranial nerve seven palsy, warning signs signaling the need for additional workup and a discussion of temporal lobe encephaloceles is provided in the case report. It is important to recognize that structural lesions can closely mimic idiopathic Bell ′s palsy, despite initial negative imaging. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 14, 2017 Category: Neurology Authors: Alexandria L. Lutley, Shannon M. Standridge Source Type: research

Diplopia with Dural Fibrotic Thickening
Idiopathic hypertrophic pachymeningitis is a rare disorder of diffuse thickening of the cranial or spinal dura matter without an identifiable cause. Most common in adult males, idiopathic hypertrophic pachymeningitis typically presents with headache with or without varied associated focal neurologic deficits and findings of dural enhancement on MRI in a linear, nodular or combined pattern. As it is felt to be an autoimmune disorder, treatment with high dose corticosteroids is typically recommended, and without intervention, the course is usually progressive. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 14, 2017 Category: Neurology Authors: Brittany Brand, Dave Somers, Blake Wittenberg, Jessica Gautreaux, Stephen Deputy Source Type: research

The Terrible Summer of ‘52…when Polio struck our family
Based on information gathered from the Knutson Siblings (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 14, 2017 Category: Neurology Authors: Linda Knutson Strand Tags: Case Studies issue Source Type: research

The Curse of Apneic Spells
A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and DMPK genes, the RAPSN gene revealed one known mutation, p.Asn88Lys, from the mother, and one novel mutation, p.Cys366Gly, from the father. Life-saving pyridostigmine treatment suppressed her apneic spells and improved her motor development. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 13, 2017 Category: Neurology Authors: Josefine Radke, Mona Dreesmann, Michael Radke, Arpad von Moers, Angela Abicht, Werner Stenzel, Hans H. Goebel Source Type: research

A 20-Month-Old Girl With Fever, Seizures, Hemiparesis, and Brain Lesions Requiring a Diagnostic Brain Biopsy
We report a case of a 20-month-old girl with atypical presentation of a fairly common condition. She presented with acute onset of fever, seizures, and hemiparesis. Her cerebrospinal fluid showed total nucleated cells 10/mm3 with lymphocyte dominance. Polymerase chain reaction was negative for herpes simplex virus. Computed tomography of head showed a cerebral hemorrhage of the left frontal lobe and small subarachnoid hemorrhage in the right frontal region. Brain magnetic resonance imaging revealed multiple foci of hyperintensity in bilateral parietal lobes and right basal ganglia. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 13, 2017 Category: Neurology Authors: Satsuki Matsumoto, Eiyu Matsumoto Source Type: research

The Curse of Apneic Spells
A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. While no mutations were detected in RYR1, SMN, and SMARD1 genes, the RAPSN gene revealed one known mutation, p.Asn88Lys, from the mother, and one novel mutation, p.Cys366Gly, from the father. Life-saving pyridostigmine treatment suppressed her apneic spells and improved her motor development. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 13, 2017 Category: Neurology Authors: Josefine Radke, Mona Dreesmann, Michael Radke, Arpad von Moers, Angela Abicht, Werner Stenzel, Hans H. Goebel Source Type: research

A 20-Month-Old Girl with Fever, Seizures, Hemiparesis and Brain Lesions Requiring a Diagnostic Brain Biopsy
We report a case of a 20-month-old girl with atypical presentation of a fairy common condition. She presented with acute onset of fever, seizures and hemiparesis. Her cerebrospinal fluid (CSF) showed total nucleated cells 10/mm3 with lymphocyte dominance. Herpes simplex virus (HSV) polymerase chain reaction (PCR) result was negative. Computed tomography (CT) of head showed a cerebral hemorrhage of the left frontal lobe and small subarachnoid hemorrhage in right frontal region. Brain MRI revealed multiple foci of hyperintensity in bilateral parietal lobes and right basal ganglia. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 13, 2017 Category: Neurology Authors: Sat suki Matsumoto, Eiyu Matsumoto Source Type: research

Disentangling How the Brain is “Wired” in Cortical (Cerebral) Visual Impairment
Cortical (cerebral) visual impairment (CVI) results from perinatal injury to visual processing structures and pathways of the brain and is the most common cause of severe visual impairment or blindness in children in developed countries. Children with CVI display a wide range of visual deficits including decreased visual acuity, impaired visual field function, as well as impairments in higher-order visual processing and attention. Together, these visual impairments can dramatically influence a child ’s development and well-being. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 10, 2017 Category: Neurology Authors: Lotfi B. Merabet, D. Luisa Mayer, Corinna M. Bauer, Darick Wright, Barry S. Kran Source Type: research

A Review of Visual and Oculomotor Outcomes in Children With Posterior Fossa Tumors
This article outlines the relevant visual anatomy affected by these tumors and reviews the visual and oculomotor outcomes associated with the following 3 most common tumor types —medulloblastoma, juvenile pilocytic astrocytoma, and ependymoma. The available data suggest that the rate of permanent vision loss is low (5.9%-8.3%), with patients having juvenile pilocytic astrocytoma demonstrating the best outcomes. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 10, 2017 Category: Neurology Authors: Crandall E. Peeler Source Type: research

Pediatric Optic Neuritis
Optic neuritis is rare in children in comparison to adults, but accounts for approximately 25% of pediatric acute demyelinating syndromes. Features of pediatric optic neuritis that differ from adults include a higher rate of bilaterality, poor visual acuity on presentation, and papillitis. Diagnostic work-up includes brain magnetic resonance imaging (MRI), lumbar puncture, and blood tests to exclude infectious and inflammatory disorders. Pediatric optic neuritis may occur following infection or vaccination, or in association with a systemic demyelinating process such as acute disseminated encephalomyelitis (ADEM), neuromye...
Source: Seminars in Pediatric Neurology - April 10, 2017 Category: Neurology Authors: Melinda Y. Chang, Stacy L. Pineles Source Type: research

Disentangling How the Brain is “Wired” in Cortical/Cerebral Visual Impairment (CVI)
Cortical/cerebral visual impairment (CVI) results from perinatal injury to visual processing structures and pathways of the brain and is the most common cause of severe visual impairment/blindness in children in developed countries. Children with CVI display a wide range of visual deficits including decreased visual acuity, impaired visual field function, as well as impairments in higher order visual processing and attention. Together, these visual impairments can dramatically impact upon a child ′s development and well-being. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 10, 2017 Category: Neurology Authors: Lotfi B. Merabet, D. Luisa Mayer, Corinna M. Bauer, Darick Wright, Barry S. Kran Source Type: research

Optic Pathway Gliomas Secondary to Neurofibromatosis Type 1
Children with neurofibromatosis type 1 frequently manifest optic pathway gliomas —low-grade gliomas intrinsic to the visual pathway. This review describes the molecular and genetic mechanism driving optic pathway gliomas as well as the clinical symptoms of this relatively common genetic condition. Recommendations for clinical management and descriptions of the newest imaging t echniques will be discussed. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 10, 2017 Category: Neurology Authors: Shannon Jeanine Beres, Robert A. Avery Source Type: research

The Impact of Visual and Oculomotor Outcomes in Children with Posterior Fossa Tumors
This article outlines the relevant visual anatomy affected by these tumors and reviews the visual and oculomotor outcomes associated with the three most common tumor types – medulloblastoma, juvenile pilocytic astrocytoma, and ependymoma. The available data suggest that the rate of permanent vision loss is low (5.9–8.3%), with juvenile pilocytic astrocytoma patients having the best outcomes. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 10, 2017 Category: Neurology Authors: Crandall E. Peeler Source Type: research