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MRI Features Predictive of Aicardi-Goutieres Syndrome 8 PEDIATRIC NEUROLOGY BRIEFS A MONTHLY JOURNAL REVIEW Vol. 29, No. 1 January 2015 Editor EDITORIAL John J. Millichap, MD 2015 Relaunch as Open Access Pediatric Neurology Briefs 2 Founding Editor John J. Millichap, MD and J. Gordon Millichap, MD Pediatr Neurol Briefs 2015;29(1):2. http://dx.doi.org/10.15844/pedneurbriefs-29-1-1 J. Gordon Millichap, MD Editorial Advisory Board SEIZURE DISORDERS Leon G. Epstein, MD Ketogenic Diet as Preferred Treatment of Fires 3 Douglas R. Nordli, Jr., MD John J. Millichap, MD and J. Gordon Millichap, MD Pediatr Neurol Briefs 2015;29(1):3. http://dx.doi.org/10.15844/pedneurbriefs-29-1-2 Contributing Editors Nancy L. Kuntz, MD Remission of Childhood-onset Epilepsy 4 Vamshi K. Rao, MD Jena M. Krueger, MD and Douglas R. Nordli, Jr., MD Charles N. Swisher, MD Pediatr Neurol Briefs 2015;29(1):4. http://dx.doi.org/10.15844/pedneurbriefs-29-1-3 MUSCLE DISORDERS Delay in Diagnosis of Duchenne Muscular Dystrophy 5 Vamshi K. Rao, MD and Nancy L. Kuntz, MD Pediatr Neurol Briefs 2015;29(1):5. http://dx.doi.org/10.15844/pedneurbriefs-29-1-4 METABOLIC DISORDERS Fatty Acyl-CoA Reductase 1 Deficiency 6 Charles N. Swisher, MD Pediatr Neurol Briefs 2015;29(1):6. http://dx.doi.org/10.15844/pedneurbriefs-29-1-5 HEADACHE DISORDERS Cyclic AMP Accumulation in Migraine Induction 7 Ana B. Chelse, MD and Leon G. Epstein, MD Pediatr Neurol Briefs 2015;29(1):7. http://dx.doi.org/10.15844/pedneurbriefs-29-1-6 HEREDO-DEGENERATIVE DISORDERS MRI Features Predictive of Aicardi-Goutieres Syndrome 8 CC BY 4.0 | OPEN ACCESS J. Gordon Millichap, MD Pediatr Neurol Briefs 2015;29(1):8. http://dx.doi.org/10.15844/pedneurbriefs-29-1-7 PEDIATRIC NEUROLOGY BRIEFS © 1987-2015, ISSN 1043-3155 (print) 2166-6482 (online), is published monthly by Pediatric Neurology Briefs Publishers, PO Box 11391, Chicago, IL 60611. This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Mission: Pediatric Neurology Briefs is an Open Access (OA) continuing education service designed to expedite and facilitate the review of current scientific information for physicians and other health professionals. Disclaimer: While the information is believed to be true and accurate at publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any error or omissions. The publisher makes no warranty, express or implied, with respect to the material contained herein. Visit Pediatric Neurology Briefs online : http://www.pediatricneurologybriefs.com. Current Issue DOI: http://dx.doi.org/10.15844/pedneurbriefs-29-1 Vol. 29, No. 1 PEDIATRIC NEUROLOGY BRIEFS January 2015 EDITORIAL 2015 Relaunch as Open Access Pediatric Neurology Briefs 1,2* 1,2 John J. Millichap MD and J. Gordon Millichap, MD 1Division of Neurology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 2Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL *Correspondence: Dr. John J. Millichap, E-mail: [email protected] Keywords: Neurology; Pediatrics; Child Development; Nervous System Diseases; Brain Diseases Pediatric Neurology Briefs (PNB) has been by appropriate supplementary citations. John J. Millichap published monthly since 1987 as a continuing education becomes the journal Editor and is supported by J. Gordon service designed to expedite and facilitate review of current Millichap, as Founding Editor, the Editorial Advisory medical literature concerning pediatric neurology. In 2015, Board, and invited expert Contributing Editors. PNB is relaunched as an open access, peer-reviewed, Despite the changes in editorial structure and journal with an expanded editorial board. PNB has a new distribution, the mission of PNB remains the same: website and content management system capable of “Pediatric Neurology Briefs is a continuing education organizing peer-review and providing improved indexing, service designed to expedite and facilitate the review of DOI assignment, and online full-text article view. current scientific research and advances in child neurology Digitization of back issues, archiving, and inclusion in and related subjects.” The Editors of PNB are indebted to PubMed are future goals. The new online open access PNB the enduring support of subscribers to the print version for aims to reach more physicians, researchers, and other the past 28 years and look forward to the addition of new healthcare providers with highlights of the latest advances in readers of the open access journal. Comments and pediatric neurology and commentaries by specialists in the suggestions from readers are welcome and may be sent to field. the Editor at [email protected]. PNB has reviewed and referenced articles from over 200 journals since inception. So far, PNB consists of Disclosures 28 volumes with greater than 3200 articles, and includes The author(s) have declared that no competing interests exist. 10,000 citations referencing the works of approximately 28,000 scholarly authors. Prior to the advent of the internet, References the Editor periodically compiled and published the PNB 1. Millichap JG, editor. Progress in pediatric neurology. 1st ed. Chicago: Pediatric Neurology Briefs Publishers; 1991. articles in book form with index, according to subject 2. Millichap JG, editor. Progress in pediatric neurology II. 2nd ed. heading and in chronological order [1-3]. Chicago: Pediatric Neurology Briefs Publishers; 1994. In 2012, PNB became available online with the 3. Millichap JG, editor. Progress in pediatric neurology III. 3rd ed. digital edition that was designed and introduced by Gordon Chicago: Pediatric Neurology Briefs Publishers; 1997. T. Millichap, the interim Managing Editor. The new website 4. Krueger JM, Nordli, DR. Remission of Childhood-onset Epilepsy. allowed PNB to become a publishing partner with both the Pediatr Neurol Briefs. 2015;29(1):4. http://dx.doi.org/10.15844/ World Health Organization's HINARI Program and EIFL. pedneurbriefs-29-1-3. These services provide equitable online access to the major 5. Rao VK, Kuntz NL. Delay in Diagnosis of Duchenne Muscular journals in biomedical sciences for eligible not-for-profit Dystrophy. Pediatr Neurol Briefs. 2015;29(1):5. http://dx.doi.org/ 10.15844/pedneurbriefs-29-1-4. health institutions and libraries, making PNB available in 6. Swisher CN. Fatty acyl-CoA reductase 1 deficiency. Pediatr Neurol more than 100 developing countries, benefiting many Briefs. 2015;29(1):6. http://dx.doi.org/10.15844/pedneurbriefs-29-1-5. thousands of health workers and researchers, and in turn, 7. Chelse AB, Epstein LG. Cyclic AMP accumulation in migraine. Pediatr contributing to improve world health. Neurol Briefs. 2015;29(1):7. http://dx.doi.org/10.15844/pedneurbriefs- In 2015, the new editorial board will select articles, 29-1-6. invite authors, and oversee peer-review of all submitted 8. Millichap, JG. MRI features predictive of Aicardi-Goutieres syndrome. articles. Source article criteria include recent publication in Pediatr Neurol Briefs. 2015;29(1):8. http://dx.doi.org/10.15844/ a peer-reviewed journal and a topic of clinical value to pedneurbriefs-29-1-7. practicing pediatric neurologists. PNB covers a comprehensive group of subject areas related to progress in pediatric neurology including, but not limited to, Seizure [4], Muscle [5], Metabolic [6], Headache [7], and Heredo- Degenerative Disorders [8]. Contributing Editors provide detailed summaries of published articles, followed by commentaries based on their experience and corroborated Pediatric Neurology Briefs 2015;29(1):2. http://dx.doi.org/10.15844/pedneurbriefs-29-1-1 ISSN: 1043-3155 (print) 2166-6482 (online) ©2015 The Author(s). This work is licensed under a Creative Commons Attribution 4.0 International License. 2 Vol. 29, No. 1 PEDIATRIC NEUROLOGY BRIEFS January 2015 SEIZURE DISORDERS Ketogenic Diet as Preferred Treatment of FIRES 1,2 1,2 John J. Millichap MD and J. Gordon Millichap, MD * 1Division of Neurology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 2Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL *Correspondence: Dr. J. Gordon Millichap, E-mail: [email protected] Related Article: Singh RK, Joshi SM, Potter DM, Leber SM, Carlson MD, Shellhaas RA. Cognitive outcomes in febrile infectious-related epilepsy syndrome treated with the ketogenic diet. Pediatrics. 2014;134(5):e1431-5. Keywords: Epilepsy; Ketogenic diet; Encephalitis Investigators from the University of Alabama, of polyunsaturated fatty acids (PUFAs), elevated GABA Birmingham, AL, and University of Michigan, Ann Arbor, and decreased glutamate levels in CSF, and effects on MI, report 2 children who presented with FIRES and noradrenergic system, benzodiazepine receptor, glycolysis prolonged AED-resistant status epilepticus. Patient 1 tested and on activated potassium channels (K-ATP). negative for infectious, metabolic, genetic, and autoimmune Compared to antiepileptic drugs, the safety of the etiologies. The EEG showed burst suppression that diet is generally regarded as high. However, the recent transitioned to periodic epileptiform discharges, and a brain increased popularity of the diet has drawn attention to the MRI showed changes consistent with bilateral mesial long-term but reversible effects on blood lipids and arterial sclerosis. Patient 2 EEG showed burst suppression followed function. The use of diets with less fat, such as the modified by temporal seizure foci, and a normal MRI. Infectious, Atkins diet and low glycemic index treatment, is proposed rheumatologic, and autoimmune investigations were as a safer alternative. Discontinuation of the diet after 6 negative. Seizures were treated successfully with the months to 2 years if seizures are controlled should be ketogenic diet (4:1 ratio) in the acute and chronic stages of considered, but a hasty removal of an effective therapy the encephalopathy. Both children were maintained on the based on preliminary adverse data should be discouraged. diet along with AEDs for several months (20 and 18-month follow-up).
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