Emerging Applications of Optical Coherence Tomography in Pediatric Optic Neuropathies
Limited cooperation and attention span often lead to poorly reliable assessments of visual acuity and visual fields in children, making diagnosis and monitoring of pediatric optic neuropathies challenging. As a noninvasive imaging modality, optical coherence tomography (OCT) could offer particular utility in this patient population. OCT provides high-resolution characterization of the optic nerve head, peripapillary retinal nerve fiber layer, and cellular layers of the macula, all of which can be used to assess the severity of optic nerve disease qualitatively and quantitatively. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 10, 2017 Category: Neurology Authors: Sidney M. Gospe, M. Tariq Bhatti, Mays A. El-Dairi Source Type: research
Pediatric Pseudotumor Cerebri Syndrome: Diagnosis, Classification, and Underlying Pathophysiology
Pseudotumor cerebri syndrome (PTCS) is defined by the presence of elevated intracranial pressure in the setting of normal brain parenchyma and cerebrospinal fluid. PTCS can occur in the pediatric and adult populations and, if untreated, may lead to permanent visual loss. In this review, discussion will focus on PTCS in the pediatric population and will outline its distinct epidemiology and key elements of diagnosis, evaluation and management. Finally, although the precise mechanisms are unclear, the underlying pathophysiology will be considered. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 7, 2017 Category: Neurology Authors: Claire A. Sheldon, Grace L. Paley, Shannon J. Beres, Shana E. McCormack, Grant T. Liu Source Type: research
Pediatric Pseudotumor Cerebri Syndrome: Diagnosis, Classification and Underlying Pathophysiology
Pseudotumor cerebri syndrome (PTCS) encompasses the constellation of symptoms caused by elevated intracranial pressure of unclear etiology with normal brain parenchyma and cerebrospinal fluid constituents.1 PTCS may be considered as primary or secondary. While secondary PTCS has been attributed to a number of medications and medical conditions, when there is no identifiable secondary cause of PTCS, the condition is termed primary PTCS or idiopathic intracranial hypertension (IIH).1 PTCS, either IIH or secondary PTCS, can occur in both pediatric and adult populations. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 7, 2017 Category: Neurology Authors: Claire A. Sheldon, Grace L. Paley, Shannon J. Beres, Shana E. McCormack, Grant T. Liu Source Type: research
Pediatric Myasthenia Gravis
Myasthenia gravis is a disorder of neuromuscular transmission which leads to fatigue of skeletal muscle and fluctuating weakness. Myasthenia that affects children can be classified as one of three forms: transient neonatal myasthenia, the congenital myasthenic syndromes, and juvenile myasthenia gravis. Juvenile myasthenia gravis is an autoimmune disorder that has a tendency to affect the extraocular muscles, but can affect all skeletal muscles leading to generalized weakness and fatigability. The muscles involved in respiration can be involved leading to respiratory failure requiring ventilator support. (Source: Seminars i...
Source: Seminars in Pediatric Neurology - April 7, 2017 Category: Neurology Authors: Jason H. Peragallo Tags: Pediatric Neuro-Ophthalmology Source Type: research
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
We present cases of both types of riboflavin transporter deficiency, highlighting the distinguishing clinical features of a rapidly progressive motor or sensorimotor axonal neuropathy, optic atrophy, sensorineural hearing loss, and bulbar dysfunction. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 4, 2017 Category: Neurology Authors: Ian R. Woodcock, Manoj P. Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M. White, Rachel Stapleton, Dean G. Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M. Ryan, Colin Robertson, Eppie M. Yiu Source Type: research
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa
This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis. It is an autosomal recessive condition for which the genetic mutation has only recently been linked to a riboflavin transporter deficiency. We describe an 11-month-old affected male infant. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 4, 2017 Category: Neurology Authors: Shaakira Chaya, Marco Zampoli, Diane Gray, Jane Booth, Gillian Riordan, Alvin Ndondo, Karen Fieggen, Jody Rusch, George van der Watt, Komala Pillay, Francois van der Westhuizen, Manoj Menezes, Jo Wilmshurst Source Type: research
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
We present cases of both types of riboflavin transporter deficiency, highlighting the distinguishing clinical features of a rapidly progressive motor or sensorimotor axonal neuropathy, optic atrophy, sensorineural hearing loss, and bulbar dysfunction. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 4, 2017 Category: Neurology Authors: Ian R. Woodcock, Manoj P. Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M. White, Rachel Stapleton, Dean G. Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M. Ryan, Colin Robertson, Eppie M. Yiu Source Type: research
Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome
We present cases of both types of riboflavin transporter deficiency, highlighting the distinguishing clinical features of a rapidly progressive motor or sensorimotor axonal neuropathy, optic atrophy, sensorineural hearing loss and bulbar dysfunction. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 4, 2017 Category: Neurology Authors: Ian R. Woodcock, Manoj P. Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M. White, Rachel Stapleton, Dean G. Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M. Ryan, Colin Robertson, Eppie M. Yiu Source Type: research
The first Case of Riboflavin Transporter Deficiency in Sub-Saharan Africa
This report describes the first case of a child with genetically confirmed Brown-Vialetto-Van Laere syndrome (BVVL) in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis. It is an autosomal recessive condition for which the genetic mutation has only recently been linked to a riboflavin transporter deficiency. We describe an 11 month old affected male infant. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 4, 2017 Category: Neurology Authors: S. Chaya, M. Zampoli, D. Gray, J. Booth, G. Riordan, A. Ndondo, K. Fieggen, J.A. Rusch, G. van der Watt, K. Pillay, F.H. van der Westhuizen, M. Menezes, J.M. Wilmshurst Source Type: research
Elevated Creatine Kinase in a 6-Year-Old Boy
Paucisymptomatic or asymptomatic but persistently elevated serum creatine kinase is not an uncommon pediatric neurology referral question. The challenge is in promptly identifying etiologies with specific treatments, even if they are rare. The presenting features for a child or adolescent with juvenile-onset Pompe disease (JOPD) can be nonspecific and heterogeneous. Clinical manifestations can appear at any age after 2 years and before adulthood, with insidious onset of symptoms related to slowly progressive skeletal or respiratory muscle weakness. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eunice K. Chan, Andrew J. Kornberg Source Type: research
McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders
We present the case of a young woman with worsening attacks of muscle pain and rhabdomyolysis beginning at age 14. Initial metabolic testing and electromyography revealed findings of a nonspecific myopathy. Diagnostic options were discussed among the members of a neurogenetics clinic team. Whole-exome sequencing was selected as a first tier test. This testing revealed a known disease causing mutation in the PYGM gene consistent with McArdle disease. We discuss the decision to use whole-exome sequencing in diagnostics and the rationale for making this our choice as a first-level test modality. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: William D. Walters, Adolfo D. Garnica, Gerald Bradley Schaefer Source Type: research
Infantile-Onset Myelin Protein Zero –Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia
We describe an infant with an early-onset demyelinating neuropathy who presented with an upper extremity monoplegia and progressive asymmetric weakness. Neurophysiologic testing revealed a generalized severe neuropathy with marked slowing of nerve conduction. The disproportionate severity and asymmetry of upper extremity involvement at presentation was atypical of inherited neuropathies, and an initial diagnosis of chronic inflammatory demyelinating polyneuropathy was considered. Nerve biopsy showed severe depletion of large myelinated fibers without inflammatory cells, and focally folded myelin sheaths were seen on electr...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eppie M. Yiu, Jithangi Wanigasinghe, Mark T. Mackay, Michael Gonzales, Garth A. Nicholson, Monique M. Ryan Source Type: research
Consideration of Genetic Diagnoses of Developmental Delay in Children of Consanguineous Families
We present 3 cases wherein children of consanguineous parents presented to the pediatric neurology clinic for evaluation and potential diagnosis of the cause of global developmental delay. The outcome of the investigations in each case demo nstrate the need to follow established guidelines for appropriate genetic testing as they pertain to the patient׳s presentation rather than a single element of the history (ie, consanguinity). (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Salva Sadeghi, Michael Shevell Source Type: research
Facial Weakness and Ophthalmoplegia in a 4-Day-Old Infant
We present a neonate with neurologic deficits recognized at 4 days of age. A male infant was born at term via emergency cesarian section due to failure to progress and fetal decelerations. He underwent therapeutic hypothermia for hypoxic ischemic encephalopathy. Upon completion of rewarming, he was noted to have left facial palsy, abduction deficit on the left eye past the midline, and nystagmus involving the right eye. Brain magnetic resonance imaging showed a pontine stroke, and computed tomography angiogram revealed basilar artery thrombosis. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Ioanna Kouri, Katherine Mathews, Charuta Joshi Source Type: research
Focal Epilepsy in a Teenager With Facial Atrophy and Hair Loss
This article reviews the literature related to the presentation, epidemiology, diagnosis, and treatment of Parry-Romberg syndrome and linear scleroderma en coupe de sabre with focus on the significant correlation with neurologic disease, particularly seizures. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Stephen W. English, Mai Lan Ho, Megha M. Tollefson, Lily C. Wong-Kisiel Source Type: research
