Editorial Comment

A short glance across the topics represented in the communications of the last twelve months indicates that the pediatric neurologist of the 21st century needs an encyclopedic mind. The continuous process of methodological refinement particularly in the molecular genetic field and in the various imaging methods not only greatly facilitates the recognition of new disorders but also drives the phenotypic diversity and molecular heterogeneity of formerly “simple” disorders. What used to be Aicardi-Goutières syndrome, already quite a rare encephalopathy, is fanning out into a genetically heterogenous group of disorders on one hand [[1]] and into phenotypically overlapping but distinct syndromes, in particular one recently named “Coats” Plus by Crow et al. [[2]]. New neurometabolic disorders arrive on the scene like the disorders of polyol metabolism [[3]] which, from the few data available as yet, seem to cover an extremely wide clinical range from leukodystrophy to hepatopathy similar to the spectrum seen in patients with congenital disorders of glycosylation. Brain magnetic resonance imaging combined with spectroscopy allows to define new leukodystrophies [[6]]. These few examples of the many high quality contributions serve to illustrate how dynamically the field is evolving but also how challenging the increasing complexity is for the pediatric neurologist.

It has always been characteristic of this medical subspecialty to care for many patients with widely different disorders. However, another advantage of more precise molecular subdivision and also understanding of molecular pathophysiology should not be overlooked: therapeutic interventions, once the mainstay of epileptology and a few treatable disorders like Guillain-Barré syndrome, are now slowly but steadily becoming available for a large number of disorders. Precise molecular diagnosis in this respect becomes the key for tailoring a therapeutic approach as illustrated by the treatment aspects of congenital myasthenia due to Rapsyn deficiency [[4]] or the favorable short-term results of salbutamol treatment of patients with central core and multi-minicore disease [[5]]. It is not speculative to predict that treatment studies of genetic disorders once thought untreatable will be of increasing importance in the near future.

It is gratifying for an editor to see a constant influx of research articles that allow him to shape the Journal at the scientific edge. This would not be possible without the dedicated work of the many authors who contribute steadily and thereby profile the contents. Their efforts are joined by those of the members of the Editorial Board as well as those of the many specialists worldwide who donate their time and experience as reviewers and really form the scientific backbone of this collective undertaking. It is particularly reassuring for an editor if the review process ends in a dialogue between the authors and reviewers, as it frequently does, clarifying, highlighting and stimulating certain points. This does not only improve the manuscripts, as many authors commented, but in the best of cases it is educating for both sides. The names of the reviewers who contributed their expertise over the last 24 months are listed below with all due thanks for their support and dedication.

Over the years the Editorial Board has always seen a certain turnover which in part reflects a constant process of rejuvenation in a metaphoric rather than a literal sense but is also due to the fact that scientists sometimes change their focus or dedicate all their energies to new tasks. My particular thanks, and those of the Journal, go to Professor William B. Dobyns, Chicago, who has been a great stimulator, contributor, and friend, and who passes his task as American Editor of Neuropediatrics to Dr. Carsten G. Bönnemann, Philadelphia. I am also deeply indebted to Professor Hans-Gerd Lenard, Duesseldorf, outgoing Editor-in-Chief, my teacher, mentor and friend who has given his support and advice to the Journal ever since 1973. Similar longstanding support and untiring input came from Professor Jean Aicardi, Paris, whose eminent contributions to the field were recently honoured by the Society for Neuropediatrics by bestowing him with the Peter-Emil-Becker Award. My gratitude also goes to Drs. Kurt Hecox, Chicago, and Michael Painter, Pittsburgh, for their constructive support. Warm welcomes go to the new American Editor, Dr. Carsten G. Bönnemann, to the new Editor-in-Chief Professor Linda de Vries, Utrecht, and to the new members of the Editorial Board, Dr. Enrico Bertini, Rome, and Dr. Eugenio Mercuri, Rome, both of whom have already significantly contributed over the past years.

Neuropediatrics is doing its best to keep its readership updated on the developments in this field. Articles are now available ahead of print in electronic form through eFirst (www.thieme-connect.com). Complete electronic handling of manuscripts is due to follow shortly.

As all members of the Gesellschaft fuer Neuropaediatrie (Society for Neuropediatrics) will have noted Neuropediatrics now also carries a leporello at regular intervals in order to update members about news and views within the Society. All these efforts should help to stimulate the field and finally to provide the best possible medicine to our patients.

Thomas Voit

References

• 1 Crow Y J, Jackson A P, Roberts E. et al . Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3 p21.  Am J Hum Genet. 2000;  67 213-221
• 2 Crow Y J, McMenamin J, Haenggeli C A. et al . Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.  Neuropediatrics. 2004;  35 10-19
• 3 Huck J H, Verhoeven N M, van Hagen J M. et al . Clinical presentation of patients with polyol abnormalities.  Neuropediatrics. 2004;  35 167-173
• 4 Ioos C, Barois A, Richard P, Eymard B, Hantai D, Estournet-Mathiaud B. Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.  Neuropediatrics. 2004;  35 246-249
• 5 Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E. Pilot trial of salbutamol in central core and multi-minicore diseases.  Neuropediatrics. 2004;  35 262-266
• 6 Serkov S V, Pronin I N, Bykova O V. et al . Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate.  Neuropediatrics. 2004;  35 1-5