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 was ever present. (Sourc...
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, was ever present. (Source: Sem...
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
