Neuropathy In Childhood Research Articles

Paediatric mononeuritis multiplex: a report of three cases and review of the literature

Mononeuritis multiplex results from disease processes causing multifocal injury to the peripheral nerves, with or without involvement of one or more cranial nerves. Most reported cases of paediatric mononeuritis multiplex have been related to autoimmune disorders. We present clinical and neurophysiologic findings in three cases of multiple mononeuropathy occurring in adolescence, with onset at ages 16, 17 and 13 years. Two of these cases were related to systemic vasculitis, one possibly representing a paediatric case of non-systemic vasculitis. Sural nerve biopsy confirmed the diagnosis of vasculitis in one patient with systemic lupus erythematosus, but was non-diagnostic in another case. Mononeuritis multiplex is an extremely uncommon form of acquired peripheral neuropathy in childhood. We discuss the differential diagnosis and review previous descriptions of this rare condition.

88th ENMC International Workshop: Childhood chronic inflammatory demyelinating polyneuropathy (including revised diagnostic criteria), Naarden, The Netherlands, December 8–10, 2000

88th ENMC International Workshop: Childhood chronic inflammatory demyelinating polyneuropathy (including revised diagnostic criteria), Naarden, The Netherlands, December 8–10, 2000

Peripheral neuropathy in childhood

Peripheral neuropathy in childhood

PERIPHERAL NEUROPATHY IN CHILDHOOD. Second edition.

Peripheral neuropathies in childhood are a not uncommon part of paediatric neurology practice. Of my last 5000 cases, 99 have had one of the conditions dealt with in this book, making them collectively the tenth most common diagnosis I see. This is a slightly artificial grouping, however, as one does not think of or manage the hereditary, motor and sensory neuropathies (of which I have seen only seven) in the same way as one does Bell's palsy (20) or brachial plexus lesions of the new-born (18). Thus, individually, they are not a prominent part of clinical practice either. Consequently, few paediatric neurologists have taken a special interest in this group of disorders. We are therefore fortunate to have the accumulated wisdom of one of the few groups that has. Ouvrier and his team wrote the first edition of this monograph in 1990. Up to 1983, they had studied 125 cases over a 17-year period. Since then, the number has risen to more than 300. Uniquely, these are all biopsy-proven cases. Hence they speak with considerable authority on histopathological correlations of the hereditary neuropathies, which, unlike adult practice, constitute the majority (71% of this series). Since the first edition, diagnosis by DNA analysis is now …

Peripheral neuropathy in childhood, 2nd Edition, International review of child neurology series

Peripheral neuropathy in childhood, 2nd Edition, International review of child neurology series

Peripheral neuropathy in childhood

Peripheral neuropathy in childhood

Peripheral Neuropathy in Childhood

Peripheral Neuropathy in Childhood

Idiopathic small-fiber sensory neuropathy in childhood: A diagnosis based on objective findings on punch skin biopsy specimens

Idiopathic small-fiber sensory neuropathy (SFSN) has not previously been reported in children. Although affected patients complain of neuropathic pain, this condition is often difficult to diagnose because of the few objective physical signs and normal nerve conduction studies. We report a girl with idiopathic SFSN in whom the results of a sural nerve biopsy were normal, but punch skin biopsy revealed reduced intraepidermal nerve fiber density and established the diagnosis. Idiopathic SFSN should be considered in the differential diagnosis of children who have burning limb pain with no routine electrophysiologic or pathologic abnormalities. (J Pediatr 1999;135:257-60)

Auditory neuropathy in childhood.

Auditory neuropathy is a recently described disorder in which patients demonstrate hearing loss for pure tones, impaired word discrimination out of proportion to pure tone loss, absent or abnormal auditory brainstem responses, and normal outer hair cell function as measured by otoacoustic emissions and cochlear microphonics. We have identified eight pediatric patients having hearing deficits that are most likely due to a neuropathy of the eighth nerve. In this study, the results of audiologic testing performed with these eight children are described. Retrospective review of audiologic findings in eight children with auditory neuropathy. Each subject was tested with pure tone and speech audiologic testing, auditory brainstem response, and click-evoked otoacoustic emissions. Results of these tests were tabulated and summarized. Pure tone audiologic testing revealed five children with upsloping sensorineural hearing loss, two with high frequency loss, and one with a mild, flat configuration. Six children demonstrated poor word discrimination scores, and the other two had fair to good word discrimination. All eight subjects had normal distortion product and transient otoacoustic emissions. All eight children demonstrated absent or marked abnormalities of brainstem auditory evoked potentials. These findings suggest that while cochlear outer hair cell function is normal, the lesion is located at the eighth nerve. Recent advances in otoacoustic emissions testing permit differentiation of neural deafness from sensory deafness. This paper describes the clinical presentation and audiologic findings in pediatric auditory neuropathy, as well as the recommended management of these patients. Otolaryngologists should be aware of this disorder and implications for its management, which differs from treatment of sensorineural hearing loss.

Pudendal nerve function in normal and encopretic children.

Abnormal pudendal nerve function contributes to fecal retention and incontinence in adults. To determine the role of pudendal neuropathy in childhood, we prospectively evaluated pudendal nerve function in normal and encopretic children. We studied pudendal nerve terminal motor latency in 23 encopretic children and in an equal number of similarly aged, normal children. Anal manometry and electromyography were also obtained in all children. Pudendal nerve latency in the encopretic children equaled 1.58 +/- 0.33 msec, which was the same as that in control children. Of the 75 pudendal nerves tested, latency was prolonged in only one encopretic child. In contrast, anal electromyography demonstrated nonrelaxation of the external anal sphincter in 75% of the encopretic children but in only 13% of the normal children (p < 0.001). Anorectal manometry demonstrated, on average, lower and sphincter pressures at rest and with squeezing in the encopretic children (p < 0.01), but only 17% had sphincter pressures more than two standard deviations below normal. Other than poor relaxation response of the external anal sphincter during evacuation, these data reveal a paucity of functionally important abnormalities in encopretic children. In particular, we find no evidence that abnormal pudendal nerve function is important in the etiology or pathogenesis of encopresis in children.

Pudendal Nerve Function in Normal and Encopretic Children

ABSTRACTBackground:Abnormal pudendal nerve function contributes to fecal retention and incontinence in adults. To determine the role of pudendal neuropathy in childhood, we prospectively evaluated pudendal nerve function in normal and encopretic children.Methods:We studied pudendal nerve terminal motor latency in 23 encopretic children and in an equal number of similarly aged, normal children. Anal manometry and electromyography were also obtained in all children.Results:Pudendal nerve latency in the encopretic children equaled 1.58 ± 0.33 msec, which was the same as that in control children. Of the 75 pudendal nerves tested, latency was prolonged in only one encopretic child. In contrast, anal electromyography demonstrated nonrelaxation of the external anal sphincter in 75% of the encopretic children but in only 13% of the normal children (p &lt; 0.001). Anorectal manometry demonstrated, on average, lower anal sphincter pressures at rest and with squeezing in the encopretic children (p &lt; 0.01), but only 17% had sphincter pressures more than two standard deviations below normal.Conclusions:Other than poor relaxation response of the external anal sphincter during evacuation, these data reveal a paucity of functionally important abnormalities in encopretic children. In particular, we find no evidence that abnormal pudendal nerve function is important in the etiology or pathogenesis of encopresis in children.

Acute motor axonal neuropathy in childhood: Clinical and MRI findings

Clinical and radiologic findings in a child with acute motor axonal neuropathy are reported. A 16-year-old boy with mild cerebral palsy presented 1 week after an upper respiratory tract infection with low back pain, ascending weakness, and areflexia. Cerebrospinal fluid (CSF) examination revealed albuminocytological dissociation. Serial electromyograms (EMGs) with nerve conduction velocity (NCV) studies revealed findings of motor axonal neuropathy. Spine MRI revealed enhancement of the cauda equina. Acute motor axonal neuropathy (AMAN) may be an underrecognized cause of acute flaccid paralysis, and to our knowledge no pediatric cases have been reported in the United States. MRI findings have not been reported previously.

Peripheral neuropathies in childhood: a neuropathological approach

Peripheral neuropathies affect children more often than the young and middle age adults, but less frequently than the elderly. They differ from those in the adults because of the high incidence of hereditary neuropathies, including those associated with metabolic and degenerative disorders of the central nervous system; the low incidence of toxic neuropathies and those associated with systemic disorders; and a lower incidence of chronic acquire polineuropathies. Nerve biopsies are indicated if the diagnosis has not been made with clinical and electrophysiologic studies and other methods, and should only be performed in laboratories with appropriated techniques for the study of the nerve. It is important to know the normal development of the nerve, the thickness of the myelin sheath and the distribution of small and large fibers, according to the age. The main morphological aspects of the most frequent neuropathies in children--acquired (inflammatory, demyelinating) and hereditary (sensory-motor, sensory-autonomic, ataxic, and those associated with metabolic and degenerative disorders), are reviewed.

Hereditary neuropathies in children: The contribution of the new genetics

Although the prevalence of the hereditary motor and sensory neuropathies in childhood is not clearly established and the age of presentation may overlap the arbitrary boundary between pediatric and adult neurology, the recent explosion of genetic information regarding these conditions has completely altered our understanding and classification of these diseases. The current status of our understanding of the molecular basis of the hereditary neuropathies which might present in childhood is reviewed. The impact of this information on our concepts of the mechanisms operative in the production of the clinical signs and symptoms in these diseases is discussed.

Advances in the genetics of hereditary hypertrophic neuropathy in childhood

Advances in the genetics of hereditary hypertrophic neuropathy in childhood

Advances in the genetics of hereditary hypertrophic neuropathy in childhood

The peripheral neuropathies constitute approximately 30% of cases seen in a pediatric neuromuscular service. Two-thirds of such cases are chronic. Of the latter group roughly 70% are hereditary, 20% indeterminate and 10% acquired. There are definite chromosomal localizations for an increasing number of the hereditary neuropathies: to the region of the centromere of the X chromosome in an X-linked form of Charcot-Marie-Tooth (CMT) disease, to chromosome 17 in the commonest form of CMT, and to the long arm of chromosome 1, close to the Duffy locus, in a few kindreds with a rarer type of CMT. A duplication of DNA on the long arm of chromosome 17 is the commonest abnormality in autosomal dominant CMT. The duplicated region contains the gene for a 22 kDa myelin protein, PMP-22. The gene for PMP-22 is the site of a mutation in the hereditary neuropathy of the Trembler mouse. Some sporadic and inherited cases of chronic hypertrophic demyelinating neuropathy have recently been shown to be associated with specific mutations of the myelin protein P0 and PMP-22 loci. By contrast, a deletion encompassing the PMP-22 locus has been found in tomaculous neuropathy (hereditary liability to pressure palsies). Finally, mutations of the gap junction protein, connexin 32, have been shown to be responsible for X-linked dominant CMT.

Treatable hypertrophic neuropathy in childhood: Changes in nerve conduction before and after treatment

In this report the effects of phencyclidine (PCP) on physiologic variables, local cerebral blood flow (LCBF), and on hippocampal cell damage were measured in a rat model of forebrain ischemia (2-vessel occlusion and hypotension). Ischemia was induced for 10 min. LCBF was determined after 2 min of recirculation, using the [14C]iodoantipyrine technique. Hippocampal cell loss was quantified histologically 7 days postischemia as the percentage of acidic stainable neurons. Intravenous application of PCP (2 mg/kg) at 15 min prior to ischemia left postischemic LCBF unchanged, but neuronal damage was significantly reduced in hippocampal CA1 sector from 46 to 15.7%. PCP is concluded to reduce ischemic damage of neurons mainly via a direct effect on brain tissue.

Book Review: Peripheral Neuropathy in Childhood, The International Review of Child Neurology, by R.A. Ouvrier, J.G. McLeod, and J.D. Pollard. Published in 1990 by Raven Press, New York, 252 pages, $84.00

Book Review: Peripheral Neuropathy in Childhood, The International Review of Child Neurology, by R.A. Ouvrier, J.G. McLeod, and J.D. Pollard. Published in 1990 by Raven Press, New York, 252 pages, $84.00

Book Reviews

Neuropathology and Applied NeurobiologyVolume 17, Issue 3 p. 260-264 Free Access Book Reviews First published: June 1991 https://doi.org/10.1111/j.1365-2990.1991.tb00723.xAboutPDF 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 onFacebookTwitterLinked InRedditWechat Abstract Book reviewed in this article: Long D. M. (Editor) Brain Edema. Pathogenesis, Imaging and Therapy (Advances in Neurology Volume 52) Frost J. J. & Wagner H. N. (Eds) Quantitative Imaging: Neuroreceptors, Neurotransmitters and Enzymes Fillenz M. Noradrenergic Neurons Cambridge University Press Ouvier R. A., McLeod J. G. & Pollard J. D. Peripheral Neuropathy in Childhood (International Review of Child Neurology Series) Kirkwood R. J. Essentials of Neuroimaging Churchill Livingstone Volume17, Issue3June 1991Pages 260-264 RelatedInformation

A Case of Progressive Hypertrophic Neuropathy in Childhood with Facial Diplegia: Dejerine-Sottas Disease

A Case of Progressive Hypertrophic Neuropathy in Childhood with Facial Diplegia: Dejerine-Sottas Disease