Congenital Rupture of a Neuropathic Bladder: Report of a Case

A case of intra-uterine rupture of a neurogenic bladder in a female child with spina bifida is reported, together with the unusual histological appearances of detrusor-muscle atrophy at the site of rupture. The literature on ruptured bladder in the neonatal period is reviewed.     

Rett Syndrome and Epilepsy: An Update for Child Neurologists

Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one of the most well-described and problematic, affecting as many as 50%-90% of patients. Seizures can often be refractory, requiring polytherapy and consideration of nonpharmacologic management (e.g., ketogenic diets and vagus nerve stimulation). In addition, many nonepileptic symptoms of Rett syndrome can occasionally be difficult to differentiate from seizures making clinical management and family counseling challenging. Our goal in this review is to better define the clinical and electrophysiological aspects of the epilepsy associated with Rett syndrome and provide practical guidance regarding management.     

An Update on Tourette Syndrome

Recent advances in our understanding of the phenomenology, etiology, pathophysiology, and treatment of Tourette syndrome are discussed. Tourette syndrome appears to involve dysfunction of limbic and somatosensory “traffic” through the basal ganglia, within corticostriatal-thalamocortical circuits. Dynamic alterations in the balance of these inputs may dictate the manifestations (sensory, motor, affective, and behavioral) of the disorder at any given time. Individualized assessment and treatment are the keys to optimal treatment of this condition.     

An Update on the Epidemiology of Schizophrenia with a Special Reference to Clinically Important Risk Factors

Schizophrenia is a chronic mental illness which poses a tremendous burden on the families, caregivers and the society. The purpose of this paper is to provide an updated review of the epidemiology of schizophrenia with a special attention to the clinically important risk factors such as drug abuse, hormonal factors and the new advances in genetic research. The authors reviewed the literature with a special focus to the recent papers published from January 1970 to present. The prevalence of schizophrenia varied by ten-fold and the incidence of schizophrenia varied by five-fold among different studies. Significant advances in genetic research and DNA technology have been achieved over the past two decades and suggested substantial genetic etiology of schizophrenia. Extensive studies have been done with many variations in the prevalence, incidence and risk factors of schizophrenia among different studies.     

Neuropathic arthropathy of the elbow in a paediatric patient with myelomeningocele

Introduction: This case report describes perhaps the youngest case of neuropathic arthropathy (NA) in an upper extremity documented in a patient with myelomeningocele.

Methods: Case report.

Results: This case report describes presenting symptoms, results of radiologic work-up, treatment approach and functional outcome thus far. Included is a clinical picture of the patient as well as a radiograph of the affected elbow.

Discussion: NA, also known as Charcot joint, is a rare occurrence in the upper extremity. NA is well documented in the literature; however, the majority of reports are of adults with affected lower extremities. This report describes the very rare occurrence of upper extremity involvement of a 5 year old child with myleomeningocele. As the literature does not guide treatment for this age of patient, this study reports the treatment plan and the child's outcome thus far. Due to the rarity of this situation, future research will be quite difficult. Reports of cases such as this including treatment and outcome will be helpful to guide clinical decision-making for future cases.     

An Update on the Neurologic Applications of Botulinum Toxins

Initially used to treat strabismus in the 1970s, botulinum toxin now has more than a hundred possible medical applications. Its utility in neurologic conditions has largely involved treating movement disorders (particularly dystonia and conditions with muscle hyperactivity), although practically any hyperkinetic movement disorder may be relieved by botulinum toxin, including hemifacial spasm, tremor, tics, myoclonus, and spasticity. Although initially thought to inhibit acetylcholine release only at the neuromuscular junction, botulinum toxins are now recognized to inhibit acetylcholine release at autonomic cholinergic nerve terminals, as well as peripheral release of neurotransmitters involved in pain regulation. Thus, their use in neurology has been expanded to include headache and other pain syndromes, as well as hypersecretory disorders. This article highlights some of the common neurologic conditions currently improved by botulinum toxins and reviews the scientific evidence from research studies and clinical experience with these conditions.     

An Update on Psychogenic Movement Disorders

Psychogenic movement disorders (PMD) and other conversion disorders (CD) with apparent neurologic signs (neurologic CD) plague patients and perplex physicians. Due to a lack of objective evidence of underlying brain lesions, CD were largely abandoned by neurologists and remained poorly understood psychiatric diagnoses throughout most of the 20th century. Modern neuroscience now supports increasingly comprehensive biological models for these complex disorders, definitively establishing their place in both neurology and psychiatry. Although it is often clinically useful to distinguish a movement disorder as either “organic” or “psychogenic,” this dichotomy is difficult to defend scientifically. Here we describe the neuroimaging and neurophysiologic evidence for dysfunctional neural networks in PMD, explain the diagnostic potential of clinical neurophysiologic testing, discuss the promising if increasingly complex role of neuropsychiatric genetics, and review current treatment strategies.     

An Update on the Impact of Gun Control Legislation on Suicide

Objective: The authors review recent literature examining the impact of gun control legislation on suicide rates. Method: MEDLINE and PsychLIT searches on gun ownership, gun control, and psychiatric firearm-related topics from 1982 through March 1997 were examined for reports focusing on gun control legislation and suicide. Results: Suicide rates typically decreased following implementation of a variety of firearm control laws. Suicide-prone individuals seldom substitute other means or go outside legal channels for suicide weapons. Firearm restrictions may decrease the ready accessibility of firearms enough to allow the peak period of suicidality to pass. Conclusion: The findings support gun control measures as a strategy for reducing suicide rates.     

An Update on the Approach to the Imaging of Brain Tumors

Purpose of Review

Neuroimaging plays a critical role in diagnosis of brain tumors and in assessment of response to therapy. However, challenges remain, including accurately and reproducibly assessing response to therapy, defining endpoints for neuro-oncology trials, providing prognostic information, and differentiating progressive disease from post-therapeutic changes particularly in the setting of antiangiogenic and other novel therapies.

Recent Findings

Recent advances in the imaging of brain tumors include application of advanced MRI imaging techniques to assess tumor response to therapy and analysis of imaging features correlating to molecular markers, grade, and prognosis.

Summary

This review aims to summarize recent advances in imaging as applied to current diagnostic and therapeutic neuro-oncologic challenges.

     

An Update on Monoclonal Gammopathy and Neuropathy

Peripheral neuropathy associated with monoclonal gammopathy is a rare but important cause of neuropathy that can herald serious underlying disease. IgM monoclonal gammopathy of undetermined significance (MGUS) is the most commonly found monoclonal gammopathy associated with neuropathy, with characteristic clinical, electrophysiologic, and pathologic features. The IgG and IgA monoclonal gammopathies are rarely associated with specific neuropathies. Standard immunomodulatory agents including steroids, intravenous immunoglobulin, and plasmapheresis have shown limited efficacy in IgM MGUS. Neuropathies associated with specific lymphoproliferative disorders may not respond to treatments aimed at that disorder. Case series had shown promising results with rituximab, a monoclonal antibody that targets the B cell surface antigen CD20 and results in a rapid and sustained depletion of B cells; however, two recent randomized controlled trials with rituximab failed to provide evidence of efficacy in primary outcome measures, despite reduction in antibody levels. Long-term studies looking at the association between specific immunologic markers and disease recurrence are needed to ultimately develop targeted therapies.     

An Unusual Cervical Spinal Meningioma in a Child

The incidence of spinal meningioma is very rare in children. A 14-year-old girl presented with right arm weakness, gait disturbance, and urinary incontinence. Cervical magnetic resonance imaging revealed an intradural extramedullary tumor dorsal to the spinal cord in the level of C1. The tumor was totally removed despite the severe cord compression. Meningotheliomatous meningioma was diagnosed after histological examination.     

An Update on the Use of Sedative-Hypnotic Medications in Psychiatric Disorders

Sleep disturbance is a common clinical problem experienced by patients with a wide range of psychiatric disorders. Accumulating evidence has demonstrated that insomnia is a comorbid process that affects the course and treatment of a number of forms of mental illness. The efficacy and safety of sedative-hypnotic medications have largely been established in patients who do not have comorbid psychiatric disorders, underscoring the need for further research in this sphere. This review summarizes pertinent findings in the recent literature that have examined the role of hypnotic medication in the treatment of psychiatric illness, and highlights potential areas that may prove fruitful avenues of future research.     

An Examination of the Effects of a Classroom Activity Schedule on Levels of Self-Injury and Engagement for a Child with Severe Autism

We examined the effects of an individualized schedule on levels of engagement and self-injury for a student with severe autism. We first conducted a series of functional analyses to identify contexts in which self-injury occurred in his classroom. Results of the functional analyses suggested that self-injury was associated with academic demands. Self-injury rarely occurred during the play and no interaction conditions (i.e., when the teacher was present but did not attend to him) of the functional analysis. Furthermore, when the functional analysis conditions were organized according to a specific schedule (no interaction–play–demand) self-injury did not occur. This schedule of activities was then evaluated within the context of his regular curriculum and produced substantial reductions in self-injury and increases in engagement. Positive results maintained for up to five months following the assessment. These findings seem to indicate that functional analysis methodologies might provide helpful information when developing individualized schedules for students who may not have the skills to comprehend and follow a schedule.     

An Update on the Laboratory Diagnosis of Neuromyelitis Optica Spectrum Disorders

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder of the central nervous system that is specifically associated with demyelination of spinal cord and optic nerves. The discovery of specific autoantibody markers such as aquaporin-4 IgG and myelin oligodendrocyte glycoprotein IgG has led to several methodologies being developed and validated. There have been numerous investigations of the clinical and radiological presentations used in the clinical diagnosis of NMOSD. However, although various laboratory diagnostic techniques have been standardized and validated, a gold-standard test has yet to be finalized due to uncertain sensitivities and specificities of the methodologies. For this review, the literature was surveyed to compile the standardized laboratory techniques utilized for the differential diagnosis of NMOSD. Enzyme-linked immunosorbent assays enable screening of NMOSD, but they are considered less sensitive than cell-based assays (CBAs), which were found to be highly sensitive and specific. However, CBAs are laborious and prone to batch variations in their results, since the expression levels of protein need to be maintained and monitored meticulously. Standardizing point-of-care devices and peptide-based assays would make it possible to improve the turnaround time and accessibility of the test, especially in resource-poor settings.