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Seminars in Pediatric Neurology

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https://www.readbyqxmd.com/read/29961533/atypical-presentation-of-a-progressive-and-treatable-encephalopathy-in-an-older-child-with-gelastic-and-dacrystic-seizures
#1
Jorge Vidaurre, Sunjay Nunley
We discuss an unusual case of a teenage boy who presented with waxing and waning cognitive decline and gelastic-dacrystic seizures, evolving later into a rapidly progressive encephalopathy with status epilepticus. Extensive genetic and metabolic testing did not lead to a specific diagnosis. Cerebrospinal fluid studies performed during admission to the intensive care unit provided the information needed to establish a diagnosis. After implementation of specific treatment, his seizures stopped and his background electroencephalogram returned to normal...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961532/editorial-to-follow-case-21-regarding-cases-14-21
#2
EDITORIAL
John B Bodensteiner
No abstract text is available yet for this article.
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961531/a-boy-with-red-ears
#3
Juliana Coleman, Margie A Ream
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.
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961530/a-quiet-disease-with-loud-manifestations
#4
Benjamin Louis Moresco, Melissa Dziuk Svoboda, Yu-Tze Ng
Cytomegalovirus (CMV) is the most common congenital virus passed from mother to fetus in the United States, and the most common acquired cause of sensorineural hearing loss. Neuroimaging in patients with symptomatic congenital CMV demonstrates abnormalities frequently, but many providers are unaware of the extent of these findings. 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...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961529/diplopia-with-dural-fibrotic-thickening
#5
Brittany Brand, Dave Somers, Blake Wittenberg, Jessica Gautreaux, Stephen Deputy
Idiopathic hypertrophic pachymeningitis (HP) is a rare disorder of diffuse thickening of the cranial or spinal dura mater without an identifiable cause. Most common in adult males, idiopathic HP typically presents with headache with or without varied associated focal neurologic deficits and findings of dural enhancement on magnetic resonance imaging in a linear, nodular, or combined pattern. As it is felt to be an autoimmune disorder, treatment with high-dose corticosteroids is typically recommended, and without intervention, the course is usually progressive...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961528/a-20-month-old-girl-with-fever-seizures-hemiparesis-and-brain-lesions-requiring-a-diagnostic-brain-biopsy
#6
Satsuki Matsumoto, Eiyu Matsumoto
We report a case of a 20-month-old girl with atypical presentation of a fairly common condition. She presented with acute onset of fever, seizures, and hemiparesis. Her cerebrospinal fluid showed total nucleated cells 10/mm3 with lymphocyte dominance. Polymerase chain reaction was negative for herpes simplex virus. Computed tomography of head showed a cerebral hemorrhage of the left frontal lobe and small subarachnoid hemorrhage in the right frontal region. Brain magnetic resonance imaging revealed multiple foci of hyperintensity in bilateral parietal lobes and right basal ganglia...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961527/a-case-of-an-unusual-bell-s-palsy-mimic
#7
Alexandria L Lutley, Shannon M Standridge
We discuss the case of a 5-year-old boy who presented with an isolated left-sided cranial nerve 7 palsy that was initially magnetic resonance imaging negative. Owing to continued symptoms, repeat magnetic resonance imaging was performed and showed a temporal bone encephalocele. A review of the differential diagnosis of cranial nerve 7 palsy, warning signs signaling the need for additional workup, and a discussion of temporal lobe encephaloceles is provided in this case report. It is important to recognize that structural lesions can closely mimic idiopathic Bell's palsy, despite initial negative imaging...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961526/pseudobulbar-affect-in-survivors-of-extreme-prematurity-with-cerebellar-injury-support-for-the-cerebellar-link-in-pathologic-laughter-and-crying
#8
John B Bodensteiner
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...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961525/focal-epilepsy-in-a-teenager-with-facial-atrophy-and-hair-loss
#9
Stephen W English, Mai Lan Ho, Megha M Tollefson, Lily C Wong-Kisiel
There is increasing evidence to demonstrate that Parry-Romberg syndrome and linear scleroderma en coup de sabre are both forms of linear scleroderma, representing localized autoimmune conditions affecting the skin, eyes, brain, and surrounding tissues. We present a case highlighting the clinical presentation of a 12-year-old boy with focal seizures and physical examination findings of 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...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961524/editorial-comment-case-14-basilar-artery-thrombosis-in-a-neonate
#10
EDITORIAL
John B Bodensteiner
No abstract text is available yet for this article.
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961523/facial-weakness-and-ophthalmoplegia-in-a-4-day-old-infant
#11
Ioanna Kouri, Katherine Mathews, Charuta Joshi
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...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961522/consideration-of-genetic-diagnoses-of-developmental-delay-in-children-of-consanguineous-families
#12
Salva Sadeghi, Michael Shevell
In patients presenting with global developmental day, eliciting a history of consanguinity may increase a clinician׳s bias toward suspecting an autosomal recessive etiology. 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 demonstrate 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)...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961521/editorial-to-follow-cases-9-12
#13
EDITORIAL
John B Bodensteiner
No abstract text is available yet for this article.
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961520/the-curse-of-apneic-spells
#14
Josefine Radke, Mona Dreesmann, Michael Radke, Arpad von Moers, Angela Abicht, Werner Stenzel, Hans H Goebel
A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and DMPK genes, the RAPSN gene revealed one known mutation, p.Asn88Lys, from the mother, and one novel mutation, p.Cys366Gly, from the father. Life-saving pyridostigmine treatment suppressed her apneic spells and improved her motor development...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961519/infantile-onset-myelin-protein-zero-related-demyelinating-neuropathy-presenting-as-an-upper-extremity-monoplegia
#15
Eppie M Yiu, Jithangi Wanigasinghe, Mark T Mackay, Michael Gonzales, Garth A Nicholson, Monique M Ryan
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 electron microscopy...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961518/mcardle-disease-presenting-with-muscle-pain-in-a-teenage-girl-the-role-of-whole-exome-sequencing-in-neurogenetic-disorders
#16
William D Walters, Adolfo D Garnica, Gerald Bradley Schaefer
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...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961517/elevated-creatine-kinase-in-a-6-year-old-boy
#17
Eunice K Chan, Andrew J Kornberg
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...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961516/editorial-a-terrible-time
#18
EDITORIAL
John B Bodensteiner
No abstract text is available yet for this article.
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961515/the-terrible-summer-of-1952-%C3%A2-when-polio-struck-our-family
#19
Linda Knutson Strand
This is the story of my twin brother's struggle with polio. The story reflects the thoughts and feelings of Lyle and members of his family and describes how we all coped with the event.
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29961514/the-more-things-change%C3%A2-child-neurology-in-the-age-of-next-generation-sequencing
#20
EDITORIAL
Marc C Patterson
No abstract text is available yet for this article.
July 2018: Seminars in Pediatric Neurology
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