Potential Risk Factors for Ventriculoperitoneal Shunt Implantation in Paediatric Patients with Posthemorrhagic Hydrocephalus of Prematurity Treated with Subcutaneous Reservoir: An Institutional Experience
Conclusion External factors seem to not affect the necessity of VPS implantation in patients after the severe IVH. Ostensibly, there seems to be no difference between the grades III and the IV of Papile's IVH scale regarding VPS implantation necessity. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 12, 2021 Category: Neurology Authors: B ębenek, Adam K. Kwiatkowski, Stanis ław Milczarek, Olga Tags: Original Article Source Type: research
Vertebral Artery Dissection in a Case of Klippel –Feil Syndrome
Neuropediatrics DOI: 10.1055/s-0041-1731806 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 7, 2021 Category: Neurology Authors: Mohammad, Shaimaa A. Hassanein, Sahar M. A. Fouad, Mohamed M. Tags: Videos and Images in Neuropediatrics Source Type: research
Subdural Hygroma in an Infant with Marfan's Syndrome
Neuropediatrics DOI: 10.1055/s-0041-1731801Based on a patient encounter in which genetically confirmed Marfan's syndrome (MFS) underlay a spontaneously resolving subdural hygroma (SDHy) diagnosed in infancy, we review the literature of MFS clinically manifest in early life (early-onset MFS [EOMFS]) and of differential diagnoses of SDHy and subdural hemorrhage (SDHe) at this age. We found that rare instances of SDHy in the infant are associated with EOMFS. The most likely triggers are minimal trauma in daily life or spontaneous intracranial hypotension. The differential diagnosis of etiologies of SDHy include abusive and no...
Source: Neuropediatrics - July 7, 2021 Category: Neurology Authors: Ballmann, Lisa Scholl-B ürgi, Sabine Karall, Thomas Odri Komazec, Irena Karall, Daniela Michel, Miriam Tags: Review Article Source Type: research
Startle Epilepsy Triggered By Maternal Cough
Neuropediatrics DOI: 10.1055/s-0041-1731008 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 30, 2021 Category: Neurology Authors: Savage, Margaret C. Kielian, Agnieszka Elitt, Christopher Peters, Jurriaan M. Ebrahimi-Fakhari, Darius Tags: Videos and Images in Neuropediatrics Source Type: research
Imaging in X-Linked Adrenoleukodystrophy
Neuropediatrics DOI: 10.1055/s-0041-1730937Magnetic resonance imaging (MRI) is the gold standard for the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD). ALD is one of the most common peroxisomal disorders and is characterized by a defect in degradation of very long chain fatty acids (VLCFA), resulting in accumulation of VLCFA in plasma and tissues. The clinical spectrum of ALD is wide and includes adrenocortical insufficiency, a slowly progressive myelopathy in adulthood, and cerebral demyelination in a subset of male patients. Cerebral demyelination (cerebral ALD) can be treated with hematopoietic ce...
Source: Neuropediatrics - June 30, 2021 Category: Neurology Authors: van de Stadt, Stephanie I.W. Huffnagel, Irene C. Turk, Bela R. van der Knaap, Marjo S. Engelen, Marc Tags: Review Article Source Type: research
Management of Neurological Emergencies in Children: An Updated Overview
Neuropediatrics DOI: 10.1055/s-0041-1730936Neurological emergencies account for about one-third of the highest severity codes attributed in emergency pediatric departments. About 75% of children with acute neurological symptoms presents with seizures, headache, or other paroxysmal events. Life-threatening conditions involve a minor proportion of patients (e.g., less than 15% of children with headache and less than 5% of children with febrile seizures). This review highlights updated insights about clinical features, diagnostic workup, and therapeutic management of pediatric neurological emergencies. Particularly, details w...
Source: Neuropediatrics - June 30, 2021 Category: Neurology Authors: Mastrangelo, Mario Baglioni, Valentina Tags: Review Article Source Type: research
Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales
Neuropediatrics DOI: 10.1055/s-0041-1731981New experimental and clinical findings question the historic view of hydrocephalus and its 100-year-old classification. In particular, real-time magnetic resonance imaging (MRI) evaluation of cerebrospinal fluid (CSF) flow and detailed insights into brain water regulation on the molecular scale indicate the existence of at least three main mechanisms that determine the dynamics of neurofluids: (1) inspiration is a major driving force; (2) adequate filling of brain ventricles by balanced CSF upsurge is sensed by cilia; and (3) the perivascular glial network connects the ependymal s...
Source: Neuropediatrics - June 30, 2021 Category: Neurology Authors: Ludwig, Hans C. Bock, Hans C. G ärtner, Jutta Schiller, Stina Frahm, Jens Dreha-Kulaczewski, Steffi Tags: Review Article Source Type: research
Neuroimaging Spectrum of Severe Hypernatremia in Infants with Neurological Manifestations
Conclusion Characteristic neuroimaging findings are vascular changes in the form of venous thrombosis and hemorrhages, osmotic demyelination and white matter tract injury, and/or mostly combinations of these findings. Severe hypernatremia and resulting hyperosmolarity frequently cause neurological sequelae in neonates and infants. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 30, 2021 Category: Neurology Authors: Vyas, Sameer Saini, Arushi Gahlot Kaur, Amrit Singh, Prabhjyot Jayashree, Muralidharan Sundaram, Venkataseshan Mukhopadhyay, Kanya Singh, Paramjeet Tags: Original Article Source Type: research
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review
Neuropediatrics DOI: 10.1055/s-0041-1728654Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the FAM126A gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain. The direct sequencing of FAM126A exons was performed for the patients and their relatives. We summarized the 30 previously published HCC cases. All of our patients were c...
Source: Neuropediatrics - June 30, 2021 Category: Neurology Authors: Kraoua, Ichraf Bouyacoub, Yosra Drissi, Cyrine Chargui, Mariem Rebai, Ibtihel Chebil, Ahmed Klaa, H édia Benrhouma, Hanene Hassen, Aida Gouider-Khouja, Neziha Abdelhak, Sonia Boespflug-Tanguy, Odile Youssef-Turki, Ilhem Ben Dorboz, Imen Tags: Original Article Source Type: research
Percutaneous Endoscopic Gastrostomy Feeding in Children with Cerebral Palsy
Conclusion PEG significantly improves malnutrition in pediatric CP patients and does not cause any major complications. Based on these findings, we think PEG is a beneficial and cost-effective intervention with a high rate of tolerability in pediatric CP patients with malnutrition. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 30, 2021 Category: Neurology Authors: Civan, Hasret Ayyildiz Bektas, Gonca Dogan, Ali Evrim Ozdener, Fatih Tags: Original Article Source Type: research
Apgar Score and Risk of Cerebral Palsy in Preterm Infants: A Population-Based Cohort Study
In conclusion, a low 5-minute Apgar score was associated with combined outcome of neonatal death or CP in all preterm births, while in surviving preterm infants at >32 weeks a low 5-minute Apgar score was associated with CP. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 23, 2021 Category: Neurology Authors: Osredkar, Damjan Verdenik, Ivan Gergeli, Anja Troha Gersak, Ksenija Lucovnik, Miha Tags: Original Article Source Type: research
Arterial Ischemic Stroke —Peculiarities of Clinical Presentation and Risk Factors in Indian Children
Neuropediatrics DOI: 10.1055/s-0041-1728773There are not enough recent studies on arterial ischemic stroke (AIS) in Indian children. We retrospectively reviewed data on 95 children (69 boys), aged 3 months to 17 years, with AIS. Focal signs were noted in 84 (88%) with hemiparesis in 72 (76%). Diffuse signs were present in 33 (35%) with fever in 22 (23%), altered mental status in 20 (21%), and headache in 12 (13%). Seizures occurred in 29 (31%) children. Arteriopathy was observed in 57 (60%) children with mineralizing lenticulostriate vasculopathy (mLSV) in 22 (23%) being the most common, followed by moyamoya in 14 (15%), a...
Source: Neuropediatrics - June 8, 2021 Category: Neurology Authors: Goraya, Jatinder Singh Berry, Shivankshi Kaur, Amandeep Singh, Gagandeep Tags: Original Article Source Type: research
Utility of Epilepsy Surgery in Survivors of Childhood Cancer
Neuropediatrics DOI: 10.1055/s-0041-1728653Resection of an epileptogenic focus improves seizure control in patients with drug-resistant epilepsy. There is little data available on usefulness of epilepsy surgery in childhood cancer survivors with drug-resistant epilepsy. To learn about seizure outcome after epilepsy surgery in childhood cancer survivors, we retrospectively reviewed charts of 42 children who were referred to an epilepsy center for surgical evaluation. Sixteen children (38%) were offered epilepsy surgery and 10 consented. Seizure outcome was classified based on International League Against Epilepsy outcome sc...
Source: Neuropediatrics - April 14, 2021 Category: Neurology Authors: Siddiqui, Ayat McGregor, Amy L. Wheless, James W. Klimo, Paul Boop, Frederick A. Khan, Raja B. Tags: Short Communication Source Type: research
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia
We report a novel and de novo KIRREL3 mutation in a child affected by severe neurodevelopmental disorder and with brain magnetic resonance imaging evidence of mega cisterna magna and mild cerebellar hypoplasia. This case strengthens the hypothesis that dominant KIRREL3 variants may lead to neurodevelopmental disruption; furthermore, given the strong interaction between KIRREL3 and CASK, we discuss as posterior fossa anomalies may also be part of the phenotype of KIRREL3-related syndrome. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  AbstractÂ...
Source: Neuropediatrics - April 14, 2021 Category: Neurology Authors: Ciaccio, Claudia Leonardi, Emanuela Polli, Roberta Murgia, Alessandra D'Arrigo, Stefano Granocchio, Elisa Chiapparini, Luisa Pantaleoni, Chiara Esposito, Silvia Tags: Short Communication Source Type: research
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy
Neuropediatrics DOI: 10.1055/s-0041-1724130The enzyme ubiquitin-like modifier activating enzyme 5 (UBA5) plays an important role in activating ubiquitin-fold modifier 1 (UFM1) and its associated cascade. UFM1 is widely expressed and known to facilitate the post-translational modification of proteins. Variants in UBA5 and UFM1 are involved in neurodevelopmental disorders with early-onset epileptic encephalopathy as a frequently seen disease manifestation. Using whole exome sequencing, we detected a homozygous UBA5 variant (c.895C > T p. [Pro299Ser]) in a patient with severe global developmental delay and epilepsy, th...
Source: Neuropediatrics - April 14, 2021 Category: Neurology Authors: Al-Saady, Murtadha L. Kaiser, Charlotte S. Wakasuqui, Felipe Korenke, G. Christoph Waisfisz, Quinten Polstra, Abeltje Pouwels, Petra J. W. Bugiani, Marianna van der Knaap, Marjo S. Lunsing, Roelineke J. Liebau, Eva Wolf, Nicole I. Tags: Short Communication Source Type: research
