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that we are approaching the point where the traditional, systematic approach to neuromuscular disease evaluation is obsolete and the physician needs only to send a blood test to make the appropriate diagnosis.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: Semina...
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
