Journal of the International Child Neurology Association 2019-11-13T06:58:17+00:00 Professor Charles Newton Open Journal Systems <p>The Journal of the International Child Neurology Association (JICNA) is an Open Access Journal&nbsp;published by the International Child Neurology Association (ICNA), representing the Association’s official Journal. The journal aims to cover all sections of Child Neurology, Epilepsy, and Neuromuscular disorders, providing teaching, practical and professional support for clinicians dealing with neurological disorders in childhood. It publishes, after peer-review process papers concerning both clinical and basic research.</p> Optic neuritis associated with chronic inflammatory demyelinating polyneuropathy in a child - a case report 2019-05-31T10:24:48+00:00 Nigel Colin Griffith DR.NIGELGRIFFITH@GMAIL.COM <p class="p1"><span class="s1">Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disorder predominantly affecting the peripheral nervous system (PNS), characterised by muscle weakness and sensory disruption which may involve all four limbs[1]. CIDP affecting children is uncommon, with a large scale review in 2013 noting 143 documented cases described in the literature [2]. Central nervous system involvement has previously been described; however, optic neuropathy is an extremely rare manifestation of CIDP, with only a small number of cases previously reported (both unilateral and bilateral) in adult patients[3-5]. This report details a child who developed optic neuropathy in association with CIDP.<span class="Apple-converted-space">&nbsp;</span></span></p> 2019-05-31T10:24:22+00:00 ##submission.copyrightStatement## Progressive chorea and dystonia associated with a large arteriovenous malformation 2019-11-13T06:58:17+00:00 Jeffrey S Raskin Mered Parnes Sandi Lam <p>A 9-year-old male with intellectual disability and epilepsy presented with a progressive movement disorder characterized by chorea and dystonia primarily affecting the left face, arm, and leg. Neuroimaging revealed a diffuse Spetzler-Martin grade 4 arteriovenous malformation centered within the right thalamus with bilateral extension into the basal ganglia, midbrain and pons. An associated network of developmental venous anomalies was noted to coalesce into ectatic deep drainage, causing obstructive hydrocephalus (Figure 1). Surgical management was not indicated given the anatomy and location of the lesion.</p> <p>The patient presented in the setting of step-wise clinical decline over several months, with worsening of chorea and dystonia resulting in loss of function of the left arm, severe left arm pain, and loss of the ability to ambulate independently (Video 1). &nbsp;The involuntary movements and arm pain improved following treatment with clonazepam, baclofen, tetrabenazine, and hydrocodone/acetaminophen as well as chemodenervation with intramuscular botulinum toxin.&nbsp; The patient developed somnolence in the setting of worsening hydrocephalus, which resolved with the placement of a ventriculoperitoneal shunt.</p> <p>The pathogenesis of secondary movement disorders is varied; etiologies include hypoxia, stroke, and kernicterus [1]. Movement disorders resulting from congenital vascular malformations are relatively uncommon and can be difficult to treat. Apart from producing structural abnormalities, which can physically disrupt normal basal ganglia-thalamocortical circuits, vascular malformations can further complicate regional dysfunction by vascular steal phenomena [2]. In this case, surgical and medical management has been helpful. Intrathecal baclofen therapy may be an option in the future should symptoms become refractory to oral regimens.</p> <p>&nbsp;</p> 2019-10-04T23:15:21+00:00 ##submission.copyrightStatement## Cannabis and related products in the treatment of epilepsy 2019-05-31T04:10:05+00:00 J Helen Cross <p>There has been much recent heightened interest in the possible use of cannabinoid products in the treatment of complex epilepsies. Although systematic studies have now been performed and reported showing benefit of cannabidiol as Epidiolex (GW Pharma) in the treatment of Dravet and Lennox Gastaut syndromes, there remains much confusion with the role of hemp oils and other products for which there is no consistent product or evidence base for use. There is also much debate as to whether the psychoactive component, tetrahydrocannabinol is required for optimal effect, with no sound evidence base for support. The current position is that that data has been acquired for Epidiolex, and licence for use granted by the Federal Drug Administration, with data submitted to the European Medicines Authority. We await full licence and availability to enable prescription as a further therapeutic option for the complex developmental epileptic encephalopathies.&nbsp;</p> 2019-05-30T14:55:36+00:00 ##submission.copyrightStatement## Position Statement:Emerging genetic therapies for rare disorders 2019-07-28T18:03:25+00:00 Pauline Samia Adam Kirton Russell Dale Silvia Tenembaum Chahnez Charfi Triki Anaita Hegde Richard Idro Edward Kija Jo M Wilmshurst Ingrid Tein Haluk Topaloğlu <p>Emerging genetic therapies for rare disorders at high cost, cannot realistically address the global burden of disease. Stakeholders must develop new pathways to ensure safe, fair and sustainable provision of such therapies.</p> 2019-07-25T14:41:51+00:00 ##submission.copyrightStatement##