Purpose of review This review is to delineate the neurological complications seen in patients with achondroplasia. Recent findings As the understanding of the genetics of this disorder has advanced, the possibility of targets for intervention which might modify the development and management of the neurological complications of this disease may be identified. Achondroplasia is a hereditary short-limbed dwarfism which has been known for millennia. The genetic defect is a gain of function sequence variation in the fibroblast growth factor receptor 3 (FGFR3). This gene normally regulates (inhibits) bone growth thus the gain of function results in abnormal or excessive inhibition of growth. The resulting bone is subject to distortion and the result is that bone impinges on nervous tissue, most commonly at the foramen magnum, spinal canal, and nerve root outlet foramen. Awareness of the range of these complications will, hopefully, allow early and more effective intervention so as to ameliorate the nature and severity of the long-term effects of the neurological complications in patients with achondroplasia.

Paul Richard Dyken (Fig), the consummate physician artist, passed away on September 11, 2017 after a courageous battle with cancer. He is survived by his wife of 56 years, Linda Dyken, three children (Shelly Jason, and Jill), and five grandchildren. He was a passionate teacher and a loyal friend. Although he was well known as an outstanding clinician, teacher, and physician, his love for life was in full evidence by his passion for family, travel, and art. His pioneering work with rare diseases such as myotonic dystrophy, Batten disease, and subacute sclerosing panencephalitis continue to affect our understanding of these disorders.

Pseudobulbar affect, that is, pathologic laughter and crying is being increasingly recognized in adults and is seen in association with a number of diseases like Parkinson disease, dementia, traumatic encephalopathy, and others, but has not previously been described in children with cerebral palsy. The condition pseudobulbar affect may be due to lesions in (or degeneration of) the cerebro-ponto-cerebellar pathways. Here we report 2 children with cerebral palsy who have structural cerebellar injury because of their being born extremely premature who have pathologic crying and probably laughter.

BACKGROUND:Pediatric neuropathies are both unique and similar to their adult counterparts, with genetic varieties thought to be more common. The objective of this work was to assess the utility of nerve biopsy in children at a tertiary referral center in light of availability of current genetic testing. METHODS:We retrospectively reviewed the clinical, nerve biopsy, and genetic testing findings of 316 pediatric (age ≤18 years) patients. RESULTS:Median age at diagnosis was 9.8 years (4 days to 18 years). Nerve biopsy was nontargeted in 198 (182 whole sural, seven superficial peroneal, and nine other), targeted in 21 (14 fascicular sciatic and seven brachial plexus), and unknown in 97 cases. Prebiopsy localizations and diagnoses were diverse, most commonly with length-dependent localizations (n = 150). Median follow-up was 6 months (0 to 480 months). A distinctive histopathologic diagnosis was made in 106 cases (33%), including inflammatory or immune (n = 30), neoplastic (n = 19), hereditary (n = 41), vasculitis (n = 10), and other (n = 6). Nerve biopsy confirmed the suspected diagnosis in 91 (29%) individuals and changed or refined the initial diagnosis in 182 (58%). Treatment modifications as a result of biopsy occurred in 80 (25%) cases; 59 (19% of the entire cohort) with clinical improvements noted, most commonly by immunotherapy (n = 30). Low diagnostic yield occurred in "hypotonic infants" without nerve conduction abnormalities. Pain at the biopsy site beyond 1 month was rare (n = 3; 1%). Forty-four patients underwent genetic testing. Among demyelinating varieties, mutations were identified in five of 11 (46%) cases compared with only six of 33 (18%) cases of axonal varieties. CONCLUSION:Pediatric nerve biopsy provides diagnostic information that frequently alters treatment recommendations. Furthermore, it leads to clinical improvements, especially in inflammatory immune neuropathies. For suspected inherited varieties, genetic testing has the highest diagnostic yield in demyelinating phenotypes.

The founding and early development of the Southern Pediatric Neurology Society was in many ways parallel to that of the Child Neurology Society. The organization started out as the Southern Child Neurology Society but the name was changed at the time of incorporation so as to avoid confusion of identity and purpose with the larger Child Neurology Society. Although there are archives of early days and the later development of the Southern Pediatric Neurology Society, the details have never been set down in a narrative explaining the events that led to the development of the organization. In this paper, we try to produce a written record of the history of the founding and early development of the Southern Pediatric Neurology Society.

For me, the call informing me that my good friends Roger and Mary Brumback were murdered is in the category of those events that you remember forever where you were when you heard the news, much like the assassination of President John F. Kennedy. I had met Roger at the University of Oklahoma in 1986 and became his ‘‘Senior Associate Editor’’ in 1987. There were some lean times at the beginning of the life of the Journal of Child Neurology but Roger was always a tremendous positive force for the journal and we both had confidence in the eventual success of the effort to establish the journal. Being the Senior Associate Editor for the past 20 years, after the survival of the journal was established, has been ‘‘a piece of cake’’ because the day-to-day operations were almost entirely performed by Dr Brumback himself. The fact that the journal was approaching a watershed point was only just on my radar but there were plans to increase the number of issues published each year and to initiate an open-access sister journal to the Journal of Child Neurology in the near future. I became acutely aware of the fact that I knew only the rudiments of the plans when Roger was killed and I was thrust into the role of the Interim Editor in Chief of the Journal of Child Neurology. The 25 years I enjoyed the title of Senior Associate Editor made me the natural choice to step in as the Interim Editor until a permanent editor could be found but I was woefully unprepared for the task. To say that Roger was a hands-on editor fails to convey the degree to which he exerted control over the entire production of the journal. Roger not only did almost everything himself but, I might add, did a remarkable job of it as well. This fact, of course, made it somewhat difficult to step into the editor’s job. I spent several weeks learning how to perform the fundamentals of the day-to-day operation of the journal, a task I could not have accomplished without the constant help of Barb Gilligan, who had served as Roger’s editorial assistant for several years and Courtney Pugh from the editorial staff at Sage Publications. I have only now begun to feel comfortable with the process of identifying appropriate reviewers, monitoring the review and revision process, reviewing proofs, and reviewing the proposed table of contents for upcoming issues. I am now at the end of my tenure as Interim Editor in Chief of the Journal of Child Neurology. I think Dr Marc Patterson will be a superb Editor for the journal as we go forward. I believe we have made the transition as smoothly as possible, under the circumstances, and I also feel the journal has survived the gap between the Editors largely intact. I am not as skilled as Roger was; however, the members of the Editorial Board, and the many reviewers that I have called on to perform above and beyond the usual requirements are the ones who deserve the credit for the maintenance of the journal during the transition. I wish to thank them all and wish the Journal of Child Neurology continued success as it grows and changes to meet the needs of the Child Neurology community in these very challenging times. Thanks to Barb Gilligan, Courtney Pugh, and all of the many individuals who have helped us get to this point. Sincerely,

A 15-year-old boy was referred for evaluation of “weak spells” since early childhood. The frequency of these episodes was on an average once a month, and their duration was variable from 4-6 hours to 1-2 days. There was no correlation to dietary intake, prior physical activity, or time of the day. During these spells, there was no reported pain. He experienced difficulty in standing, walking, climbing stairs, and raising his arms over his head. There were no associated cardiac or respiratory symptoms and no reported speech or swallowing difficulties during these spells. These spells would abort spontaneously, and he would always return to his baseline. The examination during the spells was significant for decreased tone and absent reflexes.

Macro creatine kinase type 1 is a complex formed by the creatine kinase isoenzyme BB and monoclonal IgG and occurs in about 1% of patients studied. First identified as a cause of spurious elevation of the total serum creatine kinase in patients suspected of myocardial infarction, the test has been largely replaced by the measurement of troponin levels. We present a child with delayed milestones and persistently elevated total serum creatine kinase measurements (similar to 1000-4000 IU) normal electromyogram and brisk myotatic reflexes. Creatine kinase isoenzymes and brain imaging showed the presence of macro creatine kinase type 1 and extensive signal abnormality of the cerebral white matter. Macro creatine kinase type 1 has been associated with several conditions though it has not been described in association with leukoencephalopathy or in patients this young. Macro creatine kinase type 1 can be a cause of elevated total creatine kinase in patients without primary muscle disease. The significance of the relationship of the macro creatine kinase to the leukoencephalopathy in this patient is unknown.

A four year old with a diagnosis of congenital infection leading to cerebral palsy is presented. The patient instead has a condition called Leukoencephalopathy with bilateral temporal lobe cysts which can be differentiated from congenital CMV by the clinical and MRI findings.

Macro creatine kinase type 1 is a complex formed by the creatine kinase isoenzyme BB and monoclonal IgG and occurs in about 1% of patients studied. First identified as a cause of spurious elevation of the total serum creatine kinase in patients suspected of myocardial infarction, the test has been largely replaced by the measurement of troponin levels. We present a child with delayed milestones and persistently elevated total serum creatine kinase measurements (∼1000-4000 IU) normal electromyogram and brisk myotatic reflexes. Creatine kinase isoenzymes and brain imaging showed the presence of macro creatine kinase type 1 and extensive signal abnormality of the cerebral white matter. Macro creatine kinase type 1 has been associated with several conditions though it has not been described in association with leukoencephalopathy or in patients this young. Macro creatine kinase type 1 can be a cause of elevated total creatine kinase in patients without primary muscle disease. The significance of the relationship of the macro creatine kinase to the leukoencephalopathy in this patient is unknown.

The training of the child neurologist in the fundamentals of neurology is discussed. Although the fundamentals of neurology are clearly necessary for the practice of child neurology, the breadth of the background necessary for the practice of child neurology depend on the interest, enthusiasm, and goals of the resident in question. Some of the issues involved in the design and implementation of the training curriculum will be considered.

Muscle & NerveVolume 19, Issue 3 p. 409-409 Book Review Muscle disorders in childhood, second edition. Editor: Victor Dubowitz, MD, PhD, FRCP, DCH, W.B. Saunders, The Curtis Center, Independence Square West, Philadelphia, PA 19106-3399, 1995, 549 pp., $95.00 John Bodensteiner MD, John Bodensteiner MD Department of Neurology West Virginia University HSC Morgantown, WV 26506-9180Search for more papers by this author John Bodensteiner MD, John Bodensteiner MD Department of Neurology West Virginia University HSC Morgantown, WV 26506-9180Search for more papers by this author First published: March 1996 https://doi.org/10.1002/mus.880190305AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume19, Issue3March 1996Pages 409-409 RelatedInformation

SEP's were studied in four chronically instrumented fetal sheep (FS) (GA 110-131 days) during normoxia and partial occlusion of maternal internal iliac arteries (IIA). Two animals had ovarian arteries (OA) ligated. SEP electrodes: recording-subdural at C-4 (international 10-20 system); reference-nasal bone; ground-right forelimb. Stimulating electrodes: left radial nerve. SEP configuration was consistent, latencies and amplitudes were variable. In two animals without OA ligation, fetal hypoxia could not be induced by occluding the maternal IIA's. In two animals with OA ligation, prolonged partial occlusion of IIA's resulted in the following ABG's: In FS I no change in SEP occurred. In fetus II SEP was extinguished. SEP A is during normoxia (FS II). Latencies (mean ± SD, n=17) are N1=7.1 ± 0.68, N2=15.5 ± 1.32, P1=30.5 ± 3.00, N3=65.8 ± 12.03, P2=129.8 ± 18.20. SEP B was seen in the hypoxic period. 1) SEP can be reproducibly recorded in FS. 2) GA, degree of hypoxia, type and time course of acidosis may affect SEP during hypoxia.

chidism and micropenis.He died at age of 4 years following an episode of bronchopneumonia.Fifteen months after the birth of the first affected child, a brother was born after an uneventful pregnancy and delivery.Although amniocentesis was discussed with the parents, they declined this procedure.This infant also has the typical stigmata of Down syndrome, with severe psychomotor retardation and akinetic seizures.Cytogenetic studies on each of the children revealed identical karyotypes of 46, +t(21q;21q).Studies of the parents revealed normal karyotypes in peripheral blood.The father was not available for a skin biopsy and examination of his dermatoglyphics.A skin biopsy from the mother revealed a normal 46,XX karyotype with no evidence for mosaicism.Her dermatoglyphics were normal, and discriminant analysis by the method of Deckers and associates 1 revealed a Hopkins score of-11.89,well within the limits of normal.The occurrence of a 21/21 translocation Down syndrome in two siblings could be explained on the basis of a balanced translocation carrier state in one of the parents.No evidence for such an abnormality, however, was noted.The birth of a normal child indicates that parental mosaicism for a translocation carrier state may account for the, findings.No chromosome abnormalities were identified, however, in either parent although lack of cooperation by the father precluded more intensive studies for such an aberration.There was no evidence for nonpaternity in this pedigree.In individuals mosaic for trisomy with no or few signs of Down syndrome the proportion of trisomic cells was found to be higher in skin fibroblast cultures.'-'Dermatoglyphic microsymptoms may also reflect mosaicism?4 Unfortunately, these studies could not be carried out on the father.We are aware of only one previous report of multiple half-sibs with an apparent de novo G/G translocation Down syndrome whose mother is reported to have a normal karyotype.:'."There is inadequate documentation, however, to rule out the possibility of maternal mosaicism for a cell line with a similar translocation.In cases of de novo translocation trisomy the question of amniocentesis arises because of possible increased risk for future progeny.Our experience suggests that the recurrence risk may be increased, and therefore amniocentesis in future pregnancies should be considered.