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

Pseudobulbar Affect in Survivors of Extreme Prematurity With Cerebellar Injury: Support for the Cerebellar Link in Pathologic Laughter and Crying
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. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

A Quiet Disease With Loud Manifestations
We present a case of a 15-month-old girl with progressive sensorineural hearing loss and developmental delays. Magnetic resonance imaging of her brain was done by her otolaryngologist as part of a routine cochlear implant evaluation where it was found to be drastically abnormal and reported as a likely leukodystrophy. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Benjamin Louis Moresco, Melissa Dziuk Svoboda, Yu-Tze Ng Source Type: research

A Boy With Red Ears
Vague complaints of ear pain can bring frustration in the neurology office as the differential is broad and often nonneurologic. Herein, we present a case of red ear syndrome, a treatable migraine variant that can cause significant distress and lead to delayed treatment if not considered as a diagnostic possibility. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Juliana Coleman, Margie A. Ream Source Type: research

“Cerebral Palsy” in a Patient With Arginase Deficiency
Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume that children will be diagnosed in their first months of life. However, certain IEMs present more insidiously, and occasionally children fail to receive newborn screening resulting in delayed diagnoses, as metabolic and genetic disorders are overlooked causes of cognitive and neurologic deficits. Although signs and symptoms may be present but subtle, careful and detailed history taking, particularly of a child ’s diet and neurologic me...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Amanda Jichlinski, Lindsay Clarke, Matthew T. Whitehead, Andrea Gropman Source Type: research

Hypothalamic Hamartoma With Infantile Spasms: Case Report With Surgical Treatment
We report a 10-month-old boy with treatment-resistant infantile spasms associated with hypothalamic hamartoma (HH). Electroencephalography before surgical treatment showed modified hypsarrhythmia. Transventricular endoscopic resection and disconnection resulted in immediate and enduring disappearance of the epileptic spasms and improvement in the postoperative electroencephalography. After 8 years of treatment, the patient has nondisabling gelastic seizures associated with a small amount of residual HH but no other seizure types. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Jordana Fox, Shaun Hussain, Raman Sankar, John F. Kerrigan Source Type: research

A 2-Year-Old Boy With Difficulty Waking After Bone Marrow Transplantation
We report a 2-year-old boy who was evaluated for difficult waking during prolonged intensive care unit admission associated with bone marrow transplant for Wiskott-Aldrich syndrome. Neurologic examination was found to be abnormal, with nuchal rigidity initially, then decreased extremity movement and areflexia developing over several days. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Cerebrospinal fluid showed albuminocytologic dissociation suggestive of Guillain-Barre syndrome or acute motor and sensory axonal neuropathy variant. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eileen Broomall, John Michael Taylor, Katrina Peariso Source Type: research

A 15-Year-Old Girl With Sudden Onsent Reversible Neurologic Symptoms After Cranial Irradiation for Medulloblastoma
A 15-year-old girl with history of medulloblastoma was evaluated for headache and neurologic deficits 5 years after completion of initial radiation therapy and 3 years following completion of reirradiation. Neurologic examination was notable for new-onset left hemianopia, hemiparesis, and neglect. Magnetic resonance imaging showed extensive areas of cortical T2 prolongation and thickening involving the right parietal, occipital, and temporal lobes with associated extensive gyral enhancement. Upon spontaneous resolution of her weakness after 4 days, repeat magnetic resonance imaging showed resolution of the edema and gyral ...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Elizabeth Duke, Nicole J. Ullrich Source Type: research

A 15-Month-Old Girl Presenting With Clitoromegaly and a Chest Mass
A 15-month-old girl was initially referred for endocrine evaluation for clitoromegaly and subsequently found to have an adrenal mass that tracked along the paravertebral region and was associated with increased vascular markings along the skin. Neurologic examination was normal. Magnetic resonance imaging of the chest mass demonstrated a serpiginous lesion along the intercostal margins. Initial differential diagnosis included neuroblastoma, ganglioneuroblastoma, vascular lesion, or nerve sheath tumor. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Courtney Darcy, Nicole J. Ullrich Source Type: research

Multifocal Brain Lesions With Extensive Perilesional Edema in a Young Boy Returning From Kenya
We report the case of an 8-year-old boy who presented with headaches, optic disc edema, and left eye esotropia. He had recently returned to the United States after living in Kenya for approximately 3 years. His brain magnetic resonance imaging showed multifocal lesions with significant perilesional edema seemingly out of proportion to his neurologic examination findings. With appropriate therapy there was remarkable improvement in his symptoms with reduction in size of the lesions and surrounding edema. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Kelsey Merison, Jorge Vidaurre Source Type: research

Intracranial Calcifications in Young Children
We describe 2 children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, Adams-Oliver syndrome and Aicardi-Goutieres syndrome. Differentiating genetic conditions from intrauterine infections or other causes of intracranial calcifications enables practitioners to provide accurate counseling regarding prognosis and recurrence risk. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Sarah L. Dugan, Lorenzo D. Botto, Gary L. Hedlund, James F. Bale 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

A 15-Year-Old Girl With Sudden Onsent Reversible Neurologic Symptoms After Cranial Irradiation for Medulloblastoma
A 15-year-old girl with history of medulloblastoma was evaluated for headache and neurologic deficits 5 years after completion of initial radiation therapy and 3 years following completion of reirradiation. Neurologic examination was notable for new-onset left hemianopia, hemiparesis, and neglect. Magnetic resonance imaging showed extensive areas of cortical T2 prolongation and thickening involving the right parietal, occipital, and temporal lobes with associated extensive gyral enhancement. Upon spontaneous resolution of her weakness after 4 days, repeat magnetic resonance imaging showed resolution of the edema and gyral ...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Elizabeth Duke, Nicole J. Ullrich Source Type: research

Elevated Creatinine 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

A 2-Year-Old Boy With Difficulty Waking After Bone Marrow Transplantation
We report a 2-year-old boy who was evaluated for difficult waking during prolonged intensive care unit admission associated with bone marrow transplant for Wiskott-Aldrich syndrome. Neurologic examination was found to be abnormal, with nuchal rigidity initially, then decreased extremity movement and areflexia developing over several days. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Cerebrospinal fluid showed albuminocytologic dissociation suggestive of Guillain-Barre syndrome or acute motor and sensory axonal neuropathy variant. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eileen Broomall, John Michael Taylor, Katrina Peariso Source Type: research

A 15-Month-Old Girl Presenting With Clitoromegaly and a Chest Mass
A 15-month-old girl was initially referred for endocrine evaluation for clitoromegaly and subsequently found to have an adrenal mass that tracked along the paravertebral region and was associated with increased vascular markings along the skin. Neurologic examination was normal. Magnetic resonance imaging of the chest mass demonstrated a serpiginous lesion along the intercostal margins. Initial differential diagnosis included neuroblastoma, ganglioneuroblastoma, vascular lesion, or nerve sheath tumor. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Courtney Darcy, Nicole J. Ullrich 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

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

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

Elevated CK in a 6-Year-Old Boy
Pauci- 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 non-specific and heterogeneous. Clinical manifestations can appear at any age after 2 years old 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 Tags: Case Studies issue Source Type: research

McArdle disease presenting with muscle pain in a teenage girl: The role of whole exome sequencing in neuro-genetic 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 EMG revealed findings of a nonspecific myopathy. Diagnostic options were discussed among the members of a Neuro-genetics 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, G. 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 d emonstrate 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. (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 caesarian 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 MRI showed a pontine stroke and CT 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
We present a case highlighting the clinical presentation of a 12-year-old boy with focal seizures and physical exam findings of facial atrophy and hair loss. This paper 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

Pseudobulbar Affect in Survivors of Extreme Prematurity With Cerebellar Injury: Support for the Cerebellar Link in Pathological Laughter and Crying
Pseudo-bulbar affect (PBA), ie. pathological 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 CP. The condition (PBA) may be due to lesions in (or degeneration of) the cerebro-ponto-cerebellar pathways. Here we report two children with CP who have structural cerebellar injury as a result of their being born extremely premature who have pathological crying and probably laughter. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: John B. Bodensteiner Source Type: research

A quiet disease with loud manifestations
We present a 15 month-old girl with progressive sensorineural hearing loss and developmental delays. Magnetic resonance imaging (MRI) of her brain was done by her otolaryngologist as part of a routine cochlear implant evaluation where it was drastically abnormal and reported as a likely leukodystrophy; subsequently found to be related to congenital CMV on further evaluation. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Benjamin Louis Moresco, Melissa Dziuk Svoboda, Yu-Tze Ng Source Type: research

A Boy with Red Ears
Vague complaints of ear pain can bring frustration in the neurology office as the differential is broad and often non-neurologic. Herein we present a case of red ear syndrome, a treatable migraine variant that can cause significant distress and lead to delayed treatment if not considered as a diagnostic possibility. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Juliana Coleman, Margie A. Ream Source Type: research

“Cerebral Palsy” in a Patient with Arginase Deficiency
Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume children will be diagnosed in their first months of life. However, certain IEMs present more insidiously and occasionally children fail to receive newborn screening resulting in delayed diagnoses as metabolic and genetic disorders are overlooked causes of cognitive and neurologic deficits. While signs and symptoms may be present but subtle, careful and detailed history taking, particularly of a child ′s diet and neurologic medical hist...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Amanda Jichlinski, Lindsay Clarke, Matthew Whitehead, Andrea Gropman Source Type: research

Hypothalamic Hamartoma with Infantile Spasms: Case Report with Surgical Treatment
We report a 10 month-old boy with treatment-resistant infantile spasms associated with hypothalamic hamartoma (HH). EEG prior to surgical treatment showed modified hypsarrhythmia. Transventricular endoscopic resection and disconnection resulted in immediate and enduring disappearance of the epileptic spasms and improvement in the post-operative EEG. Eight years after treatment the patient has non-disabling gelastic seizures associated with a small amount of residual HH but no other seizure types. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Jordana Fox, Shaun Hussain, Raman Sankar, John F. Kerrigan Source Type: research

A Two-Year-Old Boy with Difficulty Waking after Bone Marrow Transplantation
We report a two-year-old boy who was evaluated for difficult waking during prolonged ICU admission associated with bone marrow transplant for Wiskott Aldrich Syndrome. Neurologic examination was found to be abnormal, with nuchal rigidity initially, then decreased extremity movement and arreflexia developing over several days. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Cerebrospinal fluid showed albumino-cytologic dissociation suggestive of Guillain-Barre Syndrome/acute motor and sensory axonal neuropathy variant. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eileen Broomall, J. Michael Taylor, Katrina Peariso Tags: Case Studies issue Source Type: research

A 15-year-old girl with acute and reversible neurologic symptoms after cranial irradiation for medulloblastoma
A 15-year-old girl with history of medulloblastoma was evaluated for headache and acute onset neurologic deficits 5 years after completion of initial radiation therapy and 3 years following completion of re-irradiation. Neurological examination was notable for new onset left hemianopia, hemiparesis and neglect. MRI showed extensive areas of cortical T2 prolongation and thickening involving the right parietal, occipital and temporal lobes, with associated extensive gyral enhancement. Upon spontaneous resolution of her weakness after 4 days, repeat MRI showed resolution of the edema and gyral enhancement, suggestive of the d...
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Elizabeth Duke, Nicole J Ullrich Source Type: research

A 15-month old girl presenting with clitoromegaly and a chest mass
A 15-month-old girl was initially referred for endocrine evaluation for clitoromegaly and subsequently found to have an adrenal mass, which tracked along the paravertebral region and was associated with increased vascular markings along the skin. Neurological examination was normal. MR imaging of the chest mass demonstrated a serpiginous lesion along the intercostal margins. Initial differential diagnosis included neuroblastoma, ganglioneuroblastoma, vascular lesion or nerve sheath tumor. Biopsy was consistent with plexiform neurofibroma. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Courtney Darcy, Nicole J. Ullrich Source Type: research

Multifocal Brain Lesions with Extensive Perilesional Edema in a Young Boy Returning from Kenya
We report the case of an 8-year old boy who presented with headaches, optic disc edema, and left eye esotropia. He had recently returned to the United States after living in Kenya for approximately 3 years. His brain MRI showed multifocal lesions with significant perilesional edema seemingly out of proportion to his neurologic exam findings. With appropriate therapy there was remarkable improvement in his symptoms with reduction in size of the lesions and surrounding edema. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Kelsey Merison, Jorge Vidaurre Source Type: research

Intracranial Calcifications in Young Children
We describe two children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, Adams-Oliver syndrome and Aicardi-Goutieres syndrome. Differentiating genetic conditions from intrauterine infections or other causes of intracranial calcifications enables practitioners to provide accurate counseling regarding prognosis and recurrence risk. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Sarah L. Dugan, Lorenzo D. Botto, Gary L. Hedlund, James F. Bale Source Type: research

Neurological Complications of Nutritional Disease
This article summarizes the role of various nutritional factors in the nervous system and the neurological symptoms that can arise from deficiency or excess. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - March 1, 2017 Category: Neurology Authors: Aparna Polavarapu, Daphne Hasbani Source Type: research