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Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

(Source: Pediatric Neurology)

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

(Source: Pediatric Neurology)

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Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

(Source: Pediatric Neurology)

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Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

We read with interest Dr. Grillo’s remarks about our report on peri-ictal imaging in focal status epilepticus . We appreciate his insights regarding our report, and agree that obscure etiologies and infectious or immune-mediated encephalopathies can cause changes on magnetic resonance imaging, similar to those in our patient. (Source: Pediatric Neurology)

Peri-Ictal Magnetic Resonance Imaging Signal Abnormalities: Do They Exist?

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

In their case report (“Peri-Ictal Imaging in Focal Status Epilepticus”), Malik and Hernandez assume that signal abnormalities observed on magnetic resonance imaging 1 day after a supposed episode of status epilepticus were secondary to injury provoked by the ictal phenomenon itself. (Source: Pediatric Neurology)

Stroke and cerebrovascular disease in childhood

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

Cerebrovascular diseases in children are heterogeneous and complex. They can occur either in isolation or as a manifestation of a vast array of genetic, inflammatory, or other systemic diseases. A single disease may also predispose patients to stroke through several mechanisms. Trisomy 21, for example, can predispose patients to stroke because of cardiac defects, moyamoya disease, or arterial dissection secondary to cervical instability. Furthermore, the clinical presentation of cerebrovascular diseases can vary dramatically, depending on the age of the child. The editors of an outstanding new book, Stroke and Cerebrovascular Disease in Childhood, succeed in summarizing these diseases in a single comprehensive text. (Source: Pediatric Neurology)

Hashimoto Encephalopathy Causing Drug-Resistant Status Epilepticus Treated With Plasmapheresis

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

Abstract: Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. He experienced a recurrence of status epilepticus after pentobarbital withdrawal, and required repeated resumptions of drug-induced coma. He manifested acute personality changes. His limbic encephalitis markers were normal, but his level of anti-thyroid peroxidase antibody was high. A diagnosis of Hashimoto encephalopathy was considered. Our patient responded to plasmapheresis instead of corticosteroid treatment. This case report is the first, to the best of our knowledge, of plasmapheresis because of Hashimoto encephalopathy in a child. (Source: Pediatric N...

TUBA1A Mutation-Associated Lissencephaly: Case Report and Review of the Literature

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

We describe a 14-month-old girl with TUBA1A mutation-associated lissencephaly, and summarize the clinical and neuroradiologic findings of 19 cases in the literature. (Source: Pediatric Neurology)

Reactivation of Varicella Presenting as Pseudotumor Cerebri: Three Cases and a Review of the Literature

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

We describe three immunocompetent children with pseudotumor cerebri as the only manifestation of Varicella zoster virus reactivation, with a review of the literature. We suggest considering Varicella zoster virus in children with pseudotumor cerebri, even in the absence of a history of recent varicella infection. (Source: Pediatric Neurology)

Changes of Positron Emission Tomography in Newborn Infants at Different Gestational Ages, and Neonatal Hypoxic-Ischemic Encephalopathy

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

Abstract: Cerebral glucose metabolism was measured by 18F-fluorodeoxyglucose position emission tomography in infants at different gestational ages and with neonatal hypoxic-ischemic encephalopathy. Thirty-six preterm and term infants at different gestational ages without brain injury were divided into four subgroups: ≤32 weeks (n = 4), 33-34 weeks (n = 5), 35-36 weeks (n = 12), and ≥37 weeks (n = 15). Twenty-four newborn infants with hypoxic-ischemic encephalopathy were divided into three subgroups: mild (n = 13), moderate (n = 7), and severe (n = 4). Cerebral glucose metabolism manifested a trend toward increase, and the structure of cranial 18F-fluorodeoxyglucose positron emission tomography images became clear with increased gestational age, especially at ≥37 weeks. Uptakes...

Neonatal Seizures: Treatment Practices Among Term and Preterm Infants

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

Abstract: Neonatal seizures are common clinical conditions in both term and preterm neonates, yet no clinical management guidelines for direct care exist. We surveyed 193 international neurologists, neonatologists, and specialists in neonatal neurology or neonatal neurocritical care to assess management practices for seizures in preterm and term neonates. We found high reported rates of electroencephalogram and amplitude-integrated electroencephalogram (aEEG) monitoring to detect neonatal seizures, prevalent use of older anticonvulsant agents, and high rates of neuroimaging. Overall, responses were similar for term and preterm neonates. However, term neonates were likelier to be more heavily investigated, with higher use of magnetic resonance imaging and of electroencephalogram and aEEG mo...

Changing Pattern of Perinatal Brain Injury in Term Infants in Recent Years

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

Abstract: Perinatal brain injury in term infants remains a significant clinical problem. Recently a change appears to have occurred in the pattern of such injuries. We sought to characterize the incidence, etiology, clinical manifestations, and outcomes of these injuries. A retrospective chart review identified clinical characteristics of neuroimaging, electroencephalography, and placental pathologic findings. Perinatal depression was defined as hypotonia and the need for respiratory support. From January 2004-December 2009, 29,597 term deliveries occurred. Brain injuries in 33 infants (live term births) included hypoxic-ischemic encephalopathy (n = 8; 0.27/1000), subdural hemorrhage (n = 10; 0.34/1000), intraventricular/intraparenchymal hemorrhage (n = 5; 0.17/1000), and focal cerebral...

Historic, Clinical, and Prognostic Features of Epileptic Encephalopathies Caused by CDKL5 Mutations

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

Abstract: Mutations within the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are important causes of early-onset epileptic encephalopathies. We sought to determine the historic, clinical, and prognostic features of epilepsy secondary to CDKL5 mutations. We performed retrospective chart reviews of children at our institution with epilepsy and CDKL5 mutations. Six children were identified. One manifested a deletion in exons 10-15 of the CDKL5 gene, another manifested a single base-pair duplication in exon 3, and the rest manifested base-pair exchanges. The mean age of seizure onset was 1.8 months (range, 1-3 months). Although the majority (4/6, 67%) presented with partial-onset seizures, all children developed infantile spasms. All children demonstrated developmental delay and visual ...

Functional Magnetic Resonance Imaging Study Comparing Rhythmic Finger Tapping in Children and Adults

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

This study compared brain activation during unpaced rhythmic finger tapping in 12-year-old children with that of adults. Subjects pressed a button at a pace initially indicated by a metronome (12 consecutive tones), and then continued for 16 seconds of unpaced tapping to provide an assessment of their ability to maintain a steady rhythm. These analyses focused on the superior vermis of the cerebellum, which is known to play a key role in timing. Twelve adults and 12 children performed this rhythmic finger tapping task in a 3 T scanner. Whole-brain analyses were performed in Brain Voyager, with a random-effects analysis of variance using a general linear model. A dedicated cerebellar atlas was used to localize cerebellar activations. As in adults, unpaced rhythmic finger tapping in children...

Novel Mutation of GLRA1 in Omani Families With Hyperekplexia and Mild Mental Retardation

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

In conclusion, a novel p.W170S mutation in the extracellular ligand binding domain of glycine receptor α1 subunit was detected in patients with hyperekplexia and mild mental retardation. (Source: Pediatric Neurology)

Vigabatrin for Childhood Partial-Onset Epilepsies

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

Abstract: To determine vigabatrin’s effectiveness and the prevalence of symptomatic visual impairment (i.e., impairment affecting the ability to perform everyday activities) associated with its therapy in pediatric epilepsy, we retrospectively reviewed medical records of 156 patients receiving vigabatrin at Cincinnati Children’s Medical Center from 1998-2010. In addition to demographics and vigabatrin dosing information, data included seizure type/frequency at presentation and subsequent follow-up. Of 156 patients, we excluded 35 because their medical records were insufficient to permit verification of the exact duration or timing of vigabatrin treatment. To evaluate efficacy (n = 121/135), we used a 5-point scale (0-4) to compare seizure frequency at several time points. To evaluate ...

Tyrosine Hydroxylase Deficiency in Taiwanese Infants

Pediatric Neurology — Fri, 27 Jan 2012 01:46:49 +0100

Abstract: We analyzed the clinical manifestations, genetic mutations, treatment responses to l-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene. Two patients manifested fetal distress during the perinatal period. Four patients exhibited generalized tremor as their first observed neurologic sign at age 3 months. All presented brisk reflexes, hypokinesia, rigidity, distal chorea, and athetosis. We identified a novel missense mutation, I382T, and report on the first patient, to the best of our knowledge, with a homozygous R153X nonsense mutation. Five of six patients responde...

Diurnal Melatonin Patterns in Children: Ready to Apply in Clinical Practice?

Pediatric Neurology — Fri, 27 Jan 2012 01:46:48 +0100

Abstract: Experimental and clinical studies suggest that endogenous melatonin plays an important role in pediatric sleep regulation. This finding led to the introduction of exogenous melatonin to treat sleep disturbances. Optimizing the treatment algorithm involves a review of melatonin measurements and interpretations in clinical practice. Diurnal patterns of salivary melatonin and urinary metabolite 6-sulfatoxymelatonin were investigated in 29 children and adolescents (age, 5.5-17.3 years) by measuring concentrations every 3 hours. Relationships between melatonin parameters (peak concentrations and area under the time curve) and anthropometric measures (height, weight, and body mass index), age, and sleep scores (Sleep Disturbance Scale for Children) were investigated. High interindividu...

Role of Cochrane Reviews in Pediatric Neurology

Pediatric Neurology — Fri, 27 Jan 2012 01:46:48 +0100

Abstract: Evidence-based medicine in pediatric neurology is considered an important contributor to the best quality of care. We performed a literature review of all Cochrane reviews from 1996-2010 in pediatric neurology. Some reviews concluded that a certain intervention provided benefits, some concluded that certain interventions should not be performed, and some concluded that the current level of evidence was inconclusive. One hundred and twelve reviews were enrolled; only 17 exclusively involved children. In 33/112, a clear recommendation in favor of a certain intervention was given, 11/112 issued a conditionally positive recommendation, and 32/112 concluded that certain interventions should not be performed. Six concluded that no differences were evident between different therapeutic/...

Instructions to Contributors

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

(Source: Pediatric Neurology)

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

(Source: Pediatric Neurology)

Calendar

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

(Source: Pediatric Neurology)

Response:

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

I agree with the relevant comments of Drs. Guénolé and Baleyte. Indeed, prolonged-release melatonin has been used in children to treat abnormal circadian rhythms in Smith-Magenis syndrome with excellent results, which explains why this syndrome was overrepresented in our study. The use of prolonged-release melatonin has subsequently been extended to other neurodevelopmental disorders. All these diseases are rare, and to recruit patients with other neurodevelopmental disorders in numbers comparable to those of our patients with Smith-Magenis syndrome would be difficult. It is of interest that other patients can benefit from melatonin treatment, without side effects or complications. This finding may open the way to further studies with large numbers of patients manifesting other disorders...

Effects of Melatonin Should Be Studied Separately in Each Neurodevelopmental Disorder and With Specific Sleep Diagnoses

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

In a recent study, de Leersnyder et al. reported on the retrospective results of using prolonged-release melatonin for chronic sleep disturbance in 88 sleep-disturbed children with various neurodevelopmental disorders . Prolonged-release melatonin proved safe and effective, and the limiting absence of placebo control was acknowledged by the authors. We would like to discuss what may be considered definition and selection biases in this study. (Source: Pediatric Neurology)

Diagnosis of Sjögren-Larsson Syndrome by Magnetic Resonance Spectroscopy

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

A 25-month-old girl had been born, after an uneventful pregnancy, at 36 weeks of gestation. Her weight was low for her gestational age (2025 g). She was the first child of unrelated and healthy parents. She presented with marked congenital ichthyosis. Motor retardation was later observed (i.e., stable sitting and walking at ages 12 and 22 months, respectively). Her speech was also delayed. Her first clinical evaluation at age 25 months revealed hyperkeratotic ichthyosis, especially at the main flexor folds, with mild facial involvement. The girl manifested severe pruritus. Her hair, nails, and teeth were normal. No organomegaly was evident. A neurologic examination indicated spastic quadriplegia with axial hypotonia and a left convergent strabismus. (Source: Pediatric Neurology)

Multiple Involvement of the Central Nervous System in Rosai-Dorfman Disease

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

We describe a 10-year-old girl with pain in her lower limbs and back. Spinal magnetic resonance imaging revealed an intradural extramedullary lesion at T9-T10. We decided on surgical treatment. An anatomic/pathologic examination revealed histiocytic-like cells and extensive fibrosis. Immunohistochemistry revealed positivity for CD68 protein and negativity for CD1a protein. Craniospinal magnetic resonance imaging demonstrated an extra-axial lesion in the right frontal region, a small nodule in the left middle cerebellar peduncle, and another small lesion in the right ventral pons. We performed a complete removal of the frontal lesion. The histologic examination produced results compatible with Rosai-Dorfman disease. Most lesions in intracranial Rosai-Dorfman disease mimic meningioma. The de...

Reversible Parainfectious Bilateral “Striatal Necrosis”

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

We describe two patients with acute bilateral striatal clinical syndrome and magnetic resonance signal changes who made a complete clinical and radiologic recovery within 3 months. After an uneventful pregnancy, normal birth, and normal development, both boys presented at ages 3 and 5 years, respectively, after a viral illness with slurring of speech, bradykinesia, and an extrapyramidal movement disorder. On examination, both manifested bilateral cog wheel rigidity, with a broad-based gait and flexor plantar response. Cranial magnetic resonance imaging in both children indicated bilateral, symmetric, high signal changes in the lentiform nucleus, predominately in the putamen, with sparing of the globus pallidi bilaterally. The brain parenchyma was otherwise normal. Neurometabolic investigat...

Rotavirus Cerebellitis: New Aspects to an Old Foe?

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

This report adds further evidence supporting a direct role for rotavirus in neurologic illness. (Source: Pediatric Neurology)

Language Impairment Associated With Arachnoid Cysts: Recovery After Surgical Treatment

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

Abstract: Supporting data from the literature, we observe that large arachnoid cysts may affect cognitive function. Neuropsychologic assessment plus magnetic resonance imaging allowed for documentation of associations between left temporal arachnoid cysts, language impairment, and other cognitive dysfunctions. Significant cognitive improvements were evident soon after cysto-peritoneal shunting. These observations reinforce the rationale for neuropsychologic assessments of patients with developmental delay and arachnoid cysts, and support the potential benefit of surgical decompression for arachnoid cysts associated with neurologic deficits, even if surgery is performed well after the occurrence of neurologic deficits. (Source: Pediatric Neurology)

Henoch-Schönlein Purpura With Posterior Reversible Encephalopathy Syndrome

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

We describe atypical Henoch-Schönlein purpura with posterior reversible encephalopathy syndrome in a normotensive 11-year-old girl. Her Henoch-Schönlein purpura was atypical because she initially presented with abdominal pain and vomiting and neurologic complications, rather than with the classic rash of Henoch-Schönlein Purpura. This previously healthy child was also unusual because she manifested the radiologic and clinical features of posterior reversible encephalopathy syndrome in the absence of hypertension induced by Henoch-Schönlein purpura. Her abnormal findings resolved with supportive therapy. We discuss the association of posterior reversible encephalopathy syndrome with Henoch-Schönlein purpura in three previously reported cases. (Source: Pediatric Neurology)

Phenotypic Variability in a Portuguese Family With X-Linked Creatine Transport Deficiency

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

We describe a Portuguese family with a mutation (c.456C>T; p.Gln486X) in the SL6CA8 gene: two adult monozygotic twin brothers, with psychomotor delay and severe speech impairment. The family also includes their maternal half-sister with psychomotor retardation, predominantly in language, and their mentally retarded mother. This family illustrates the remarkable phenotypic variability in this condition. Investigation of creatine metabolism is mandatory in patients with developmental delay of unknown etiology, to detect this condition. (Source: Pediatric Neurology)

Interleukin-6 Gene Polymorphism in Febrile Seizures

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

Abstract: Febrile seizures comprise a common type of pediatric convulsion. Inflammation and genetics may be involved in their pathogenesis. Regarding the role of cytokines (especially interleukin-6) in febrile responses, we performed a case control study of interleukin-6 gene (−174, −572, and −597) single-nucleotide polymorphisms to learn if correlations existed between these particular polymorphisms and febrile seizures. We isolated the genomic DNA of 92 children with febrile seizures and 98 healthy control subjects. We genotyped individuals for their polymorphisms, using polymerase chain reaction-restriction fragment length polymorphism. In our study, the frequencies of −174 G alleles and of the −174 and −572 GG genotypes were observed to be significantly higher in pati...

Impact of Amplitude-Integrated Electroencephalograms on Clinical Care for Neonates With Seizures

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

This study included all 202 neonates treated for seizures at our hospital from 2002-2007. Neonates monitored with aEEG (n = 67) were compared with contemporary control neonates who were not monitored, despite the availability of aEEG (n = 57), and a historic control group of neonates treated for seizures before our neonatal intensive care unit initiated aEEG (n = 78). Eighty-two percent of those receiving phenobarbital (137/167) continued treatment after discharge, with no difference among groups. Adjusted for gestational age and length of stay, no difference among groups was evident in number of neuroimaging studies or number of antiepileptic drugs per patient. Fewer patients undergoing aEEG, compared with contemporary (16/67 vs 29/57, respectively, P = 0.001) or historic (n = 38/78,...

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

Abstract: Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor development is impaired by recurrent clinical seizures or prominent interictal epileptiform discharges during the neonatal or early infantile periods. They include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and other diseases, e.g., X-linked myoclonic seizures, spasticity and intellectual disability syndrome, idiopathic infantile epileptic-dyskinetic encephalopathy, epilepsy and mental retardation limited to females, and severe infantile multifocal epilepsy. We summarize recent updates on the genes and related clinical syndromes involved in the pathogenesis of early-onset epileptic encephalopathies: Aristaless-related homeobox (ARX),...

Childhood Onset of Limb-Girdle Muscular Dystrophy

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

Abstract: Limb-girdle muscular dystrophies comprise a rare heterogeneous group of genetic muscular dystrophies, involving 15 autosomal recessive subtypes and seven autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy. Typical clinical features include progressive limb muscle weakness and atrophy (proximal greater than distal), varying from very mild to severe. Significant overlap of clinical phenotypes, with genetic and clinical heterogeneity, constitutes the rule for this group of diseases. Muscle biopsies are useful for histopathologic and immunolabeling studies, and DNA analysis is the gold standard to establish the specific form of muscular dystrophy. A definitive diagnosis among various subtypes is challenging, and the data pr...

Spinal Muscular Atrophy: A Clinical and Research Update

Pediatric Neurology — Wed, 28 Dec 2011 17:40:46 +0100

Abstract: Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons associated with progressive muscle weakness and atrophy, is the most common genetic cause of infant mortality. It is caused by decreased levels of the “survival of motor neuron” (SMN) protein. Its inheritance pattern is autosomal recessive, resulting from mutations involving the SMN1 gene on chromosome 5q13. However, unlike many other autosomal recessive diseases, the SMN gene involves a unique structure (an inverted duplication) that presents potential therapeutic targets. Although no effective treatment for spinal muscular atrophy exists, the field of translational research in spinal muscular atrophy is active, and clinical trials are ongoing. Advances in the multidisciplinary supportive care...

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