Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome
Drooling is a common problem in children with progressive dystonia. The authors noted a 58% incidence of drooling in 22/38 children with MEGDEL, a rare neurodegenerative cause of dystonia and report on the clinical course of four patients. Drooling of varying severity and subsequent respiratory problems were treated at the authors’ multidisciplinary saliva-control outpatient clinic. One patient improved on antireflux medication, the second after medication with drooling as side effect was changed. Two other patients underwent salivary gland surgery, one of whom significantly improved; the other died shortly after sur...
Source: Journal of Child Neurology - August 8, 2016 Category: Neurology Authors: Blommaert, D., van Hulst, K., Hoogen, F. J. A. v. d., Erasmus, C. E., Wortmann, S. B. Tags: Original Articles Source Type: research
Persistent Headache and Cephalic Allodynia Attributed to Head Trauma in Children and Adolescents
The aim of the study was to investigate clinical features of headache associated with minor versus moderate to severe traumatic brain injury and of posttraumatic versus primary headache in children and adolescents. Study group included 74 patients after mild (n = 60) or moderate to severe (n = 14) traumatic brain injury identified by retrospective review of the computerized files of a tertiary pediatric headache clinic. Forty patients (54%) had migraine-like headache, 23 (31.1%) tension-like headache, and 11 (14.9%) nonspecified headache. Fourteen patients (53.8%) had allodynia. In comparison with 174 control patients, the...
Source: Journal of Child Neurology - August 8, 2016 Category: Neurology Authors: Markus, T. E., Zeharia, A., Cohen, Y. H., Konen, O. Tags: Original Articles Source Type: research
JCN Calendar of Events
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Tags: & lt;I gt;JCN lt;/I gt; Calendar of Events Source Type: research
Southern Pediatric Neurology Society 41st Annual Meeting, New Orleans, Louisiana
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Tags: Meeting Abstract Source Type: research
Book Review: Pediatric Neurosurgery: Tricks of the Trade
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Shaikhouni, A., Leonard, J. R. Tags: Book Review Source Type: research
Fracture in Duchenne Muscular Dystrophy: Natural History and Vitamin D Deficiency
The present study examined the natural history of fracture and vitamin D levels in Duchenne muscular dystrophy patients, who are vulnerable to osteoporosis and fractures. Retrospective analysis of a cohort of 48 Duchenne muscular dystrophy patients revealed that 43% of patients experienced ≥1 fracture. Fracture probabilities at ages 6, 9, 12, and 15 years were 4%, 9%, 31%, and 60% respectively, accelerating around the time of ambulation loss (mean age 11.8 ± 2.7 years). Chronic corticosteroid therapy was utilized in 69% of patients and was associated with all vertebral fractures. A history of vitamin D deficiency...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Perera, N., Sampaio, H., Woodhead, H., Farrar, M. Tags: Original Articles Source Type: research
Atypical Manifestations in Glut1 Deficiency Syndrome
Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: De Giorgis, V., Varesio, C., Baldassari, C., Piazza, E., Olivotto, S., Macasaet, J., Balottin, U., Veggiotti, P. Tags: Original Articles Source Type: research
Imaging Findings in Pediatric Posterior Reversible Encephalopathy Syndrome (PRES): 5 Years of Experience From a Tertiary Care Center in India
This study sought to evaluate the radiological and clinical spectrum of posterior reversible encephalopathy syndrome (PRES) in pediatric population. A retrospective evaluation of the pediatric patients with posterior reversible encephalopathy syndrome seen over the last 5 years in the authors’ hospital was done. The magnetic resonance imaging (MRI) findings were analyzed, and a review of literature was performed. Out of 32 pediatric patients of posterior reversible encephalopathy syndrome, 10 (31.25%) were males and 22 (68.75%) were females, with a mean age of 10.6 years. Renal disease (62.5%) was the most common pri...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Gupta, V., Bhatia, V., Khandelwal, N., Singh, P., Singhi, P. Tags: Original Articles Source Type: research
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency
This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. Prevalence of diagnoses in the cohort with Friedreich ataxia was compared with prevalence in the population without Friedreich ataxia. Ten patients (1.6%) had inflammatory bowel disease, 3.5 times more common in this cohort of individuals with Friedreich ataxia than in the general population. Four subjects were growth hormone deficient, reflecting a prevalence in Friedreich ataxia that is 28 times greater than the general population. Th...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Shinnick, J. E., Schadt, K., Strawser, C., Wilcox, N., Perlman, S. L., Wilmot, G. R., Gomez, C. M., Mathews, K. D., Yoon, G., Zesiewicz, T., Hoyle, C., Subramony, S. H., Yiu, E. M., Delatycki, M. B., Brocht, A. F., Farmer, J. M., Lynch, D. R. Tags: Original Articles Source Type: research
Acute Ataxia in Childhood: 11-Year Experience at a Major Pediatric Neurology Referral Center
We categorized the causes of acute ataxia in the pediatric population—referred to the Division of Neurology—at a large, urban pediatric medical center. Of the 120 cases identified over the past 11 years, post-infectious cerebellar ataxia was the most commonly diagnosed (59%), followed by drug intoxication, opsoclonus-myoclonus ataxia syndrome, episodic ataxia, acute cerebellitis, cerebellar stroke, ADEM, meningitis, cerebral vein thrombosis, Leigh’s disease, Miller-Fisher syndrome, and concussion. Among the patients with post-infectious cerebellar ataxia, 85% were 1–6 years old and all had a history...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Thakkar, K., Maricich, S. M., Alper, G. Tags: Original Articles Source Type: research
Approach to the Management of Pediatric-Onset Anti-N-Methyl-D-Aspartate (Anti-NMDA) Receptor Encephalitis: A Case Series
Anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis is a treatable cause of autoimmune encephalitis. It remains unclear if the natural history of this disease is altered by choice of acute therapy or the employment of chronic immunotherapy. Chart review was undertaken for pediatric patients diagnosed with anti-NMDA receptor encephalitis. Data obtained included patient demographics, disease manifestations, treatment course, and clinical outcomes. Ten patients with anti-NMDA receptor encephalitis were identified. All patients were treated with immunotherapy in the acute period, and all patients experienced good recov...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Brenton, J. N., Kim, J., Schwartz, R. H. Tags: Original Articles Source Type: research
Whole-Body Vibration Results in Short-Term Improvement in the Gait of Children With Idiopathic Toe Walking
This study aimed to determine the impact of multiple doses of whole-body vibration on heel strike, spatial and temporal gait parameters, and ankle range of motion of children with idiopathic toe walking. Whole-body vibration was applied for 5 sets of 1 minute vibration/1 minute rest. Gait measures were collected pre intervention, 1, 5, 10, and 20 minutes postintervention with the GaitRite® electronic walkway. Ankle range of motion was measured preintervention, immediately postintervention, and 20 minutes postintervention. The mean (SD) age of the 15 children (n = 10 males) was 5.93 (1.83) years. An immediate increase i...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Williams, C. M., Michalitsis, J., Murphy, A. T., Rawicki, B., Haines, T. P. Tags: Original Articles Source Type: research
Stability of Pediatric Migraine Subtype After a 5-year Follow-Up
The study assessed the 5-year follow-up outcome and possible prognostic factors of migraine subtypes with onset in childhood or adolescence. A total of 343 patients meeting the International Classification of Headache Disorders (ICHD)-II criteria for migraine without aura (MO), migraine with aura (MA), or both MO+MA (ie, 1.1, 1.2) were contacted by phone and underwent structured follow-up headache interviews. Of the original sample patients, 22.7% were headache-free at follow-up, 14.1% had a transformed headache diagnosis (tension-type headache: 8.2%, chronic daily headache: 5.8%), and 63.3% still had migraine fulfilling t...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Cuvellier, J.-C., Tourte, M., Lucas, C., Vallee, L. Tags: Original Articles Source Type: research
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease
Mutations in mitochondrial aminoacyl-tRNA synthetases are an increasingly recognized cause of human diseases, often arising in individuals with compound heterozygous mutations and presenting with system-specific phenotypes, frequently neurologic. FARS2 encodes mitochondrial phenylalanyl transfer ribonucleic acid (RNA) synthetase (mtPheRS), perturbations of which have been reported in 6 cases of an infantile, lethal disease with refractory epilepsy and progressive myoclonus. Here the authors report the case of juvenile onset refractory epilepsy and progressive myoclonus with compound heterozygous FARS2 mutations. The author...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Walker, M. A., Mohler, K. P., Hopkins, K. W., Oakley, D. H., Sweetser, D. A., Ibba, M., Frosch, M. P., Thibert, R. L. Tags: Original Articles Source Type: research
A Comparison of Intravenous Levetiracetam and Valproate for the Treatment of Refractory Status Epilepticus in Children
Because of the lack of studies comparing the efficacy and safety of levetiracetam and valproate before the induction of general anesthesia in the treatment of convulsive refractory status epilepticus in children, we aimed to compare the effectiveness of these antiepileptic drugs in patients with convulsive status epilepticus admitted to the Pediatric Intensive Care Unit between 2011 and 2014. Forty-six (59%) of the 78 patients received levetiracetam, and 32 (41%) received valproate for the treatment of refractory status epilepticus. The response rate was not significantly different between the 2 groups. Although no adverse...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Isgüder, R., Güzel, O., Ceylan, G., Yılmaz, U., Agın, H. Tags: Original Articles Source Type: research
