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Turk J Pediatr 2019 ;61(4):471-476

Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Günbey C, Konuşkan B. Optic neuropathies in childhood: a review of etiology and treatment. Turk J Pediatr 2019; 61: 471-476. Read More

J Pediatr Neurosci 2019 Apr-Jun;14(2):76-81

Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Introduction: Demyelinating disorders of central nervous system are rare childhood disorders that cause significant physical and cognitive disabilities. Early diagnosis and appropriate treatment determines prognosis and outcome.

Objective: The objective of this work was to study clinical profile, investigative and radiological features, treatment, and outcome of children with demyelinating disorders. Read More

Neuropediatrics 2019 12 22;50(6):341-345. Epub 2019 Jul 22.

ENT Unit, Department of Otorhinolaryngology, University of Catania, Italy.

Optic neuropathy consists of several etiological events. The primary etiologies of its acute form include optic neuritis, ischemic optic neuropathy, inflammatory (nondemyelinating) disorders, and trauma. Its subacute and chronic forms are most often linked to compressive, toxic, nutritional, or hereditary-genetic causes. Read More

Graefes Arch Clin Exp Ophthalmol 2019 Jun 22;257(6):1147-1157. Epub 2019 Mar 22.

Department of Ophthalmology (400), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

Purpose: To raise awareness of Stargardt disease (STGD1) patients without fundus abnormalities.

Methods: Medical records were evaluated for age at onset, initial symptoms and diagnosis, reason for delay of diagnosis, age at STGD1 diagnosis, best-corrected visual acuity (BCVA), ophthalmoscopy, fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FA), spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), color vision test, and the presence of ABCA4 variants.

Results: In 11. Read More

Zhonghua Er Ke Za Zhi 2019 Feb;57(2):118-124

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To explore clinical features and the effect of treatment of neuromyelitis optica spectrum disorders (NMOSD) in childhood. Children who were hospitalized in Department of Pediatrics, Peking University First Hospital from January 2013 to June 2018 and meeting diagnostic criteria of NMOSD proposed by the International Panel for NMOSD Diagnosis in 2015 were summarized and followed up. The basic information, symptoms of each attack, locations and patterns of new lesions, features of cerebrospinal fluid, serologic markers, treatments and outcomes in these patients were analyzed. Read More

Mult Scler Relat Disord 2018 Oct 20;25:138-142. Epub 2018 Jul 20.

Department of Neurology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

Background: Multiple Sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD) are acquired demyelinating syndromes of the central nervous system more frequently in young adults and their beginning before 18 years of age is rare. They are autoimmune diseases with distinct pathophysiology, clinical presentation, treatment and prognoses. During childhood these conditions often present similar clinical features and differential diagnosis among pNMOSD, pMS and acute disseminated encephalomyelitis (ADEM) is still difficult at disease onset. Read More

Eye (Lond) 2018 11 4;32(11):1688-1696. Epub 2018 Jul 4.

Copenhagen University Department of Dermato-Venerology, Bispebjerg Hospital, Copenhagen, Denmark.

Background: To evaluate ophthalmic involvement in a long-term series of patients with en coup de sabre (ECS) close to the eye based on the hypothesis that this is not commonly affected, or simply under-reported.

Methods: An observational study of ophthalmological findings in patients from Copenhagen University Dermatology Clinics. A standard eye examination further included exophthalmometry, axial length and keratometry (IOLMaster), and horizontal eye muscle thickness (B-scan ultrasonography). Read More

Dev Med Child Neurol 2018 12 24;60(12):1195-1196. Epub 2018 Apr 24.

Paediatric Neurology, Great North Children's Hospital, Newcastle upon Tyne, UK.

Epidemiol Health 2018 5;40:e2018001. Epub 2018 Jan 5.

Reference Center for Multiple Sclerosis, Santos, Brazil.

Objectives: John Cunningham virus (JCV) is a polyoma virus that infects humans, mainly in childhood or adolescence, and presents no symptomatic manifestations. JCV can cause progressive multifocal leukoencephalopathy (PML) in immunosuppressed individuals, including those undergoing treatment for multiple sclerosis (MS) and neuromyelitis optica (NMO). PML is a severe and potentially fatal disease of the brain. Read More

J Neurol Sci 2018 01 23;384:58-60. Epub 2017 Nov 23.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy; Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy. Electronic address:

Semin Pediatr Neurol 2017 08 23;24(3):189-200. Epub 2017 Aug 23.

Department of Pediatric Neurology, Sick Kids Children's Hospital, Toronto, Canada.

Acquired demyelinating syndromes in childhood comprise a spectrum of monophasic and recurrent inflammatory conditions of the central nervous system. Examples of monophasic conditions include, clinically isolated syndromes such as optic neuritis and transverse myelitis, as well as acute disseminated encephalomyelitis, whereas recurrent disorders include entities such as multiple sclerosis and neuromyelitis optica spectrum disorder. Knowledge about these disorders has expanded due to rigorously evaluated diagnostic criteria, magnetic resonance imaging features, outcomes, and serum biomarkers in these disorders. Read More

J Neuroophthalmol 2017 09;37 Suppl 1:S14-S22

The Vision Center (MB), Children's Hospital Los Angeles, Los Angeles, California; Departments of Ophthalmology and Neurology (MB), Keck School of Medicine, University of Southern California, Los Angeles, California; Neuro-ophthalmology Service (GTL), Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Departments of Neurology and Ophthalmology (GTL), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; Department of Ophthalmology (SP), Stein Eye Institute, University of California, Los Angeles, California; Division of Neurology (ATW), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; and Departments of Neurology and Pediatrics (ATW), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Few diseases blur the margins between their childhood and adult-onset varieties as much as optic neuritis. This report will review our state of knowledge of pediatric optic neuritis, as well as its relationship to the latest consensus definitions of neuroinflammatory disease. Current diagnostic and treatment options will be explored, as well as our potential to uncover an understanding of pediatric optic neuritis through systematic prospective studies. Read More

Rev Bras Reumatol Engl Ed 2017 May - Jun;57(3):224-228. Epub 2016 Oct 25.

Universidade Federal de São Paulo (Unifesp), Departamento de Pediatria, Setor de Reumatologia Pediátrica, São Paulo, SP, Brazil. Electronic address:

Introduction: Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating diseases of the central nervous system. Autoimmunity in patients with demyelinating disease and in their families has been broadly investigated and discussed. Recent studies show a higher incidence of rheumatic autoimmune diseases among adult patients with MS or NMO and their families, but there are no studies in the pediatric population. Read More

Acta Neurol Belg 2017 Sep 22;117(3):719-727. Epub 2017 Apr 22.

Department of Pediatric Gastroenterology, Dr. Sami Ulus Pediatric and Training Hospital, Ankara, Turkey.

Various typical and atypical neurological manifestations can be seen as the initial symptoms of celiac disease (CD). We suggest that gluten toxicity is the most suspicious triggering risk factor for probable pathophysiological pathways of neurological involvement in atypical CD. The medical charts of 117 patients diagnosed with atypical CD were retrieved from a tertiary center in Ankara, Turkey. Read More

Neuroimaging Clin N Am 2017 May;27(2):229-250

Department of Neurology, National Pediatric Hospital Dr. Juan P. Garrahan, Combate de los Pozos 1881, Ciudad Autónoma de Buenos Aires C1436AAM, Argentina; International Pediatric MS Study Group, Foundation for Neurologic Disease, 10 State Street, Newburyport, MA 01950, USA. Electronic address:

This article presents an overview of evolving diagnostic criteria of pediatric multiple sclerosis and related disorders, emphasizing distinguishing clinical and neuroimaging features that should be considered for differential diagnosis in childhood and adolescence. New data on the integrity of brain tissue in children with MS provided by advanced MR imaging techniques are addressed as well. Read More

Brain 2017 May;140(5):1300-1315

McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.

See Hacohen et al. (doi:10.1093/awx075) for a scientific commentary on this article. Read More

Eur J Paediatr Neurol 2017 Mar 25;21(2):358-366. Epub 2016 Oct 25.

Department of Paediatrics, Division of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium. Electronic address:

Background: Although the diagnosis of multiple sclerosis (MS) in the paediatric population remains challenging, paediatric-onset MS is increasingly recognized worldwide.

Methods: We report on the clinical and biochemical features of a Belgian multicentre cohort of paediatric MS patients in a national retrospective descriptive study.

Results: Twenty one paediatric MS patients from four Belgian University Hospitals were included. Read More

BMJ Case Rep 2016 Oct 4;2016. Epub 2016 Oct 4.

Department of Paediatric Neurology, Evelina London Children's Hospital at Guy's and St Thomas' NHS Trust, London, UK.

Optic neuritis (ON) is an acquired disorder of the optic nerve due to inflammation, demyelination or degeneration. We report a child who presented with acute onset bilateral visual loss who, following a diagnosis of ON, was treated and had excellent visual recovery. Paediatric ON is considered to be different clinical entity to adult ON. Read More

Rev Neurol 2016 Aug;63(3):103-8

Hospital Regional Universitario de Malaga, Malaga, Espana.

Introduction: In children, the most common form of optic neuritis usually occurs after an infectious disease with papilledema, usually bilateral and has a good prognosis. Conversion to multiple sclerosis is low.

Aim: To present clinical and laboratory case of optic neuritis in pediatrics features. Read More

Przegl Lek 2016 ;73(3):124-8

Introduction: Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of the central nervous system. The disease usually affects young people, with a peak onset between the ages of 20 and 40, although it may also occur in early childhood. MS is one of the most common reasons of disability in young people. Read More

Med J Malaysia 2016 04;71(2):79-80

Hospital Raja Permaisuri Bainun, Department of Ophthalmology, Ipoh, Perak, Malaysia.

Neuromyelitis optica (NMO) is a rare disorder in children with variable presentation. We report a 7-year-old boy who presented with bilateral retrobulbar optic neuritis and responded very well to treatment. He was also positive for aquaporin 4 (AQP4) antibodies, which is part of an emerging endophenotype within autoimmune neurological disorders in childhood. Read More

Eur J Paediatr Neurol 2016 May 13;20(3):352-60. Epub 2016 Feb 13.

Unit of Pediatric Neurology and Neurodevelopment, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address:

Background: Acute transvers myelitis (ATM) is a rare and disabling condition in childhood. There are only few reports of clinical profile, prognosis and predictors of ATM from developing countries.

Objective: To study the clinical profile of children with ATM and predictors of its outcome. Read More

Neurotherapeutics 2016 Jan;13(1):84-95

Acquired pediatric demyelinating diseases manifest acutely with optic neuritis, transverse myelitis, acute disseminated encephalomyelitis, or with various other acute deficits in focal or polyfocal areas of the central nervous system. Patients may experience a monophasic illness (as in the case of acute disseminated encephalomyelitis) or one that may manifest as a chronic, relapsing disease [e.g. Read More

Lupus 2016 Jan 4;25(1):93-6. Epub 2015 Sep 4.

Pediatric Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India

The ocular system can be affected in systemic lupus erythematosus (SLE) in one third of patients. However, optic nerve involvement is relatively uncommon, but is more so in pediatric SLE patients, where it can occur in 1% of cases. We report three children with SLE who presented with optic nerve involvement. Read More

Hum Vaccin Immunother 2015 ;11(12):2749-63

a Acute and Emergency Paediatric and General Paediatric Operative Unit; Policlinico-Vittorio Emanuele Hospital; University of Catania ; Catania , Italy.

Immunotherapeutic strategies to treat neurodegenerative disorders have inspired the scientific community. The aim of our review is to address the translational aspects of neuroimmunology to describe the efficacy of immunotherapy in the treatment of pediatric neurodegenerative disorders. In the studies we analyzed IVIG were found to be efficient in the treatment of post-streptococcal neurodegenerative disorders, even if in PANDAS, plasma-exchange (PE) showed a higher efficiency. Read More

Brain Nerve 2015 Jul;67(7):881-90

Department of Neurology, Graduate School of Medicine, Chiba University.

Accumulated evidence shows an association between Epstein-Barr viral (EBV) infection and multiple sclerosis (MS). In particular, EBV infections before the onset of MS, particularly in childhood, is associated with the pathogenesis of MS. Meanwhile, the association between neuromyelitis optica (NMO) and infectious agents has been reported, but is currently unclear. Read More

Methods Mol Biol 2016 ;1304:99-104

Institute of Clinical Neuroimmunology, Medical Campus Grosshadern, Ludwig Maximilian University, Marchioninistr. 15, 81377, Munich, Germany.

Autoantibodies against myelin oligodendrocyte glycoprotein (MOG) occur in a proportion of patients with different inflammatory demyelinating diseases of the central nervous system, such as childhood multiple sclerosis (MS), acute disseminated encephalomyelitis (ADEM), and neuromyelitis optica spectrum disorders (NMOSD). We describe here in detail a sensitive cell-based assay that allows the identification of autoantibodies against MOG in serum. Read More

Neurol Neuroimmunol Neuroinflamm 2015 Apr 12;2(2):e81. Epub 2015 Mar 12.

Nuffield Department of Clinical Neurosciences (Y.H., M.W., J.P., A.V., M.L., P.W.), John Radcliffe Hospital, University of Oxford, UK; Children's Neurosciences (M.A., M.L.), Evelina Children's Hospital at Guy's and St Thomas' NHS Foundation Trust, King's Health Partners Academic Health Science Centre, London, UK; Assistance Publique Hôpitaux de Paris (K.D., M.T.), Hopitaux Universitaires Paris Sud, France; Pediatric Neurology Department and National Referral Center for Neuroinflammatory Diseases (K.D., M.T.), Université Paris Sud, Le Kremlin-Bicêtre, Paris, France; Department of Paediatric Neurology (C.H.), Great Ormond Street Hospital for Children, London, UK; Department of Neurology and Center of Clinical Neuroscience (P.N.), General University Hospital in Prague, Czech Republic; First Faculty of Medicine (P.N.), Charles University in Prague, Czech Republic; and Department of Paediatric Neurology (E.W.), Birmingham Children's Hospital, UK.

Objective: To determine whether myelin oligodendrocyte glycoprotein antibodies (MOG-Abs) were predictive of a demyelination phenotype in children presenting with acquired demyelinating syndrome (ADS).

Method: Sixty-five children with a first episode of ADS (12 acute disseminated encephalomyelitis, 24 optic neuritis, 18 transverse myelitis, 11 other clinically isolated syndrome) were identified from 2 national demyelination programs in the United Kingdom and France. Acute serum samples were tested for MOG-Abs by cell-based assay. Read More

Neurology 2015 Jan 24;84(4):341-9. Epub 2014 Dec 24.

From Assistance Publique-Hôpitaux de Paris (K.D., H.M., M.T.), Hôpital Bicêtre, Pediatric Neurology Department, National Referral Center for Neuro-Inflammatory Diseases in Children, and University Paris Sud, Le Kremlin-Bicêtre, France; Children's Neurosciences (M.A., Y.H., M.L.), Evelina Children's Hospital at Guy's & St Thomas' NHS Foundation Trust, Kings Health Partners Academic Health Science Centre, London; the Department of Paediatric Neurology (C.H., G.N.), Great Ormond Street Hospital for Children, London, UK; Assistance Publique-Hôpitaux de Paris (B.H.), Hôpital Bicêtre, Pediatric Radiology Department, Le Kremlin-Bicêtre, France; and the Department of Paediatric Neurology (E.W.), Birmingham Children's Hospital, UK.

Objective: To identify early prognostic factors of relapse and disability in children presenting with an acute idiopathic transverse myelitis (TM).

Methods: Ninety-five children with acute idiopathic TM from 2 national European cohorts (France and United Kingdom) of CNS demyelinating diseases in children were identified and studied for early factors that predict relapse and disability using logistic regression models.

Results: Sixteen (17%) relapsed, with a diagnosis of multiple sclerosis in 13 (14%) and neuromyelitis optica in 3 (3%). Read More

Brain Dev 2015 Apr 30;37(4):432-8. Epub 2014 Jul 30.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address:

Background: The first episode of central nervous system (CNS) symptoms with a presumed inflammatory demyelinating cause is defined as clinically isolated syndrome (CIS) according to the 2007 consensus of the International Pediatric Multiple Sclerosis Study Group, which developed diagnostic criteria for CNS demyelination disease in children. Using this definition of CIS, we attempted to identify the natural course of pediatric patients with CIS in a single Korean institution and to determine the factors affecting their prognosis.

Methods: We retrospectively reviewed the medical records of all pediatric patients (age <18 years old) who presented with clinical symptoms of CNS events between 1997 and 2008. Read More

J Optom 2014 Jul-Sep;7(3):125-30. Epub 2014 Feb 18.

Oftalmar, Ophthalmology Department, Hospital Internacional Medimar, Alicante, Spain.

Optic neuritis is an inflammation of the optic nerve and may be related to different systemic conditions. The clinical presentation of this pathology usually includes sudden loss of visual acuity (VA) which may be unilateral or bilateral, visual field restriction, pain with eye movements, dyschromatopsia, a relative afferent pupillary defect and optic disk swelling. Optic neuritis in children has specific clinical features and a better prognosis than in adulthood. Read More

Mult Scler Relat Disord 2013 May;3(3):326-334

Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

Background: Low-contrast letter acuity and optical coherence tomography (OCT) capture visual dysfunction and axonal loss in adult-onset multiple sclerosis (MS), and have been proposed as secondary outcome metrics for therapeutic trials. Clinical trials will soon be launched in pediatric MS, but such outcome metrics have not been well-validated in this population.

Objectives: To determine whether MS onset during childhood and adolescence is associated with measurable loss of visual acuity and thinning of the retinal nerve fiber layer (RNFL), whether such features are noted only in the context of clinical optic nerve inflammation (optic neuritis, ON) or are a feature of MS even in the absence of optic nerve relapses, and to define the optimal methods for such detection. Read More

Int J Rheum Dis 2014 Jun 28;17(5):494-501. Epub 2014 Mar 28.

Department of Medicine, Tuen Mun Hospital, Hong Kong, China.

Herein we summarize the clinical presentation, treatment and outcome of neuro-ophthalmologic manifestations in patients with systemic lupus erythematosus (SLE). We performed a systematic review of the neuro-ophthalmologic manifestations of SLE reported in the English literature from 1970 to 2010 by a Medline search. The prevalence of neuro-ophthalmologic manifestations is 3. Read More

Eur J Neurol 2014 Mar 16;21(3):441-6. Epub 2013 Dec 16.

Department of Pediatrics and Pediatric Neurology, University Medical Center, Georg August University Göttingen, Göttingen, Germany.

Background And Purpose: Multiple sclerosis (MS) onset before puberty is extremely rare and establishment of diagnosis is often difficult due to atypical presentation. The study aims to identify the typical presentation of MS in this age group.

Methods: Pediatric MS patients were identified from the database of the Center for Multiple Sclerosis in Childhood and Adolescence at the University Medical Center Göttingen, Germany. Read More

J Neurol Neurosurg Psychiatry 2014 Apr 16;85(4):456-61. Epub 2013 Oct 16.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, , Oxford, UK.

Background: Autoantibodies to glial, myelin and neuronal antigens have been reported in a range of central demyelination syndromes and autoimmune encephalopathies in children, but there has not been a systematic evaluation across the range of central nervous system (CNS) autoantibodies in childhood-acquired demyelinating syndromes (ADS).

Methods: Children under the age of 16 years with first-episode ADS were identified from a national prospective surveillance study; serum from 65 patients had been sent for a variety of diagnostic tests. Antibodies to astrocyte, myelin and neuronal antigens were tested or retested in all samples. Read More

Pediatr Neurol 2014 Jan 13;50(1):66-8. Epub 2013 Oct 13.

Universidade Federal de Santa Catarina, Florianopolis, Brazil.

Background: Neuromyelitis optica with onset before the age of 18 years is a relatively rare, yet potentially devastating condition. The objective of the present study was to contribute to the study of early-onset neuromyelitis optica with a case series.

Patients: Data were collected from medical records of Brazilian neurologists caring for patients with neuromyelitis optica occurring in childhood and adolescence. Read More

Minerva Pediatr 2013 Jun;65(3):307-23

Department of Child Neurology, Massachusetts General Hospital, Boston, MA, USA.

Inflammatory demyelinating diseases (DD) affecting the central nervous system (CNS) are increasingly recognized in children. During the past decade significant advances have been made in this field. Pediatric DD are important not just because 3-5% of MS cases are diagnosed in childhood, but also because their pathogenesis may provide unique insights into the earliest events and triggers of acquired CNS DD. Read More

Handb Clin Neurol 2013 ;112:1253-62

Department of Neurology and Neurophysiology, National Paediatric Hospital Dr. Juan P. Garrahan, Buenos Aires, Argentina. Electronic address:

The advent of magnetic resonance imaging (MRI) has contributed to increase the interest and awareness in childhood white matter disorders. Pediatric inflammatory demyelinating diseases of the central nervous system (CNS) are clinically heterogeneous with respect to their mode of presentation, clinical severity, rate of progression, and prognosis. Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory disorder of the CNS, typically transitory and self-limiting. Read More

Handb Clin Neurol 2013 ;112:999-1017

Paediatric Demyelinating Disease Program, Hospital for Sick Children, University of Toronto, Toronto, Canada.

Acute nontraumatic myelopathies of childhood include inflammatory, infectious, and vascular etiologies. Inflammatory immune-mediated disorders of the spinal cord can be categorized as idiopathic isolated transverse myelitis, neuromyelitis optica, and multiple sclerosis. In recent years, human T-cell lymphotropic virus type 1, West Nile virus, enterovirus-71, and Lyme disease have been increasingly recognized as infectious etiologies of myelopathy, and poliomyelitis remains an important etiology in world regions where vaccination programs have not been universally available. Read More

Neuroimaging Clin N Am 2013 May 21;23(2):279-91. Epub 2013 Jan 21.

Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Neuromyelitis optica (NMO) is a severe inflammatory demyelinating disorder typically characterized by attacks of recurrent optic neuritis and transverse myelitis. Advances in magnetic resonance imaging techniques and the discovery of the relatively specific NMO IgG biomarker have led to improved diagnostic accuracy and greater recognition of the broad clinical spectrum of aquaporin 4-related autoimmunity. Brain lesions in NMO typically follow the distribution of aquaporin 4 expression and may be symptomatic. Read More

Mult Scler 2013 Sep 9;19(10):1261-7. Epub 2013 Apr 9.

Lourie Center for Pediatric MS. Stony Brook University Medical Center, USA.

Background: There has been tremendous growth in research in pediatric multiple sclerosis (MS) and immune mediated central nervous system demyelinating disorders since operational definitions for these conditions were first proposed in 2007. Further, the International Pediatric Multiple Sclerosis Study Group (IPMSSG), which proposed the criteria, has expanded substantially in membership and in its international scope.

Objective: The purpose of this review is to revise the 2007 definitions in order to incorporate advances in delineating the clinical and neuroradiologic features of these disorders. Read More

J Child Neurol 2014 Jun 26;29(6):830-2. Epub 2013 Feb 26.

Division of Child Neurology, Baskent University Faculty of Medicine, Adana, Turkey.

Varicella (chickenpox) is a common childhood infection caused by the varicella-zoster virus, which is often self-limiting and usually benign. Although uncommon, neurologic complications of varicella have been documented that include postinfectious cerebellar ataxia, meningoencephalitis, Reye syndrome, myelitis, optic neuritis, stroke, Guillain-Barré syndrome, seventh cranial nerve palsy, and Ramsay-Hunt syndrome. In this case study, the authors describe a 7-year-old girl who presented with varicella skin rash with unsteady gait and anarthria on day 2, and her condition was attributed to cerebellar mutism. Read More

Clin Exp Rheumatol 2013 Mar-Apr;31(2):302-9. Epub 2013 Feb 1.

Department of Paediatrics, Yokohama City University, Yokohama, Japan.

Objectives: Cryopyrin-associated periodic syndrome (CAPS), a rare hereditary auto-inflammatory disease, is associated with mutations in the NLRP3 gene resulting in elevated interleukin-1β (IL-1 β) release. CAPS generally occurs in early childhood with most patients presenting with periodic fever, skin rash, osteoarthropathy, aseptic meningitis, sensorineural hearing loss and optic neuritis. Canakinumab, a fully human anti-IL-1β monoclonal antibody which binds selectively to IL-1β, has demonstrated good efficacy with CAPS. Read More

Indian Pediatr 2012 Nov;49(11):924-5

Department of Neurology, University Childrens Hospital, and Medical Faculty University of Belgrade, 11000 Belgrade, Serbia.

Neuromyelitis optica is a rare autoimmune demyelinating disease of the central nervous system in childhood. Its relapsing form is usually reported in adults. We report a 3-year-old girl with relapsing, IgG seropositive neuromyelitis optica. Read More

J Pediatr Health Care 2012 Nov-Dec;26(6):399-408. Epub 2011 Apr 20.

Columbia University School of Nursing, New York, NY, USA.

Research demonstrates that 3.5% to 5% of persons with multiple sclerosis (MS) present before the age of 18 years. MS can present in early childhood through adolescence and must be considered as a differential diagnosis in patients with motor impairment, sensory changes, and cognitive disability. Read More

Bull Soc Belge Ophtalmol 2012 (320):5-10

Department of Ophthalmology, University Hospitals Leuven, Belgium.

We report a 4-year-old girl presenting with sudden severe bilateral visual loss. Ophthalmological examination revealed optic disc pallor. Further neurological examination was normal. Read More

J Child Neurol 2012 Nov 21;27(11):1378-83. Epub 2012 Aug 21.

Division of Neurology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Pediatric multiple sclerosis has been increasingly recognized in the past 10 to 15 years; 3% to 5% of all multiple sclerosis patients experience their first attack in childhood. Childhood multiple sclerosis has a relapsing-remitting disease course. The first attack, or "acquired demyelinating syndrome," consists of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis, and monofocal or polyfocal neurological deficits. Read More

J Child Neurol 2012 Nov 1;27(11):1437-47. Epub 2012 Aug 1.

Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

The evaluation of inflammatory central nervous system disorders in childhood with predominant involvement of the optic nerves and spinal cord has been greatly enhanced over the last decade with identification of a group of disorders unified by the detection of neuromyelitis optica (NMO)-IgG, an antibody targeting the central nervous system-predominant water channel aquaporin-4. Clinical syndromes are predominated by the relapsing form of NMO but also include encephalopathic variants that can mimic acute disseminated encephalomyelitis. Maintenance immunotherapy is used to prevent relapses in NMO-IgG-seropositive patients. Read More

Klin Monbl Augenheilkd 2012 Oct 23;229(10):1021-3. Epub 2012 Jul 23.

Abteilung Augenheilkunde, Universitätsmedizin Göttingen Georg-August-Universität.

Background: Multiple sclerosis (MS) is a chronic demyelinating disorder of the central nervous system of unknown aetiology. The onset of MS in childhood poses diagnostic and therapeutic challenges. Differential diagnoses include acute disseminated encephalomyelitis and neurometabolic leukoencephalopathies. Read More

Isr Med Assoc J 2012 Apr;14(4):234-9

Multiple Sclerosis Center, Petah Tikva, Israel.

Background: Multiple sclerosis (MS) occurs in young adults and infrequently appears in childhood.

Objectives: To determine the incidence of MS and describe the clinical, cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) findings at onset of MS in children in Israel.

Methods: Incidence and case-specific data were obtained through the MS Center Database and Israeli Health Statistics Census Data over 15 years, from 1995 to 2009, and compared between patients with childhood (< 12 years), juvenile (> or = 12 years, < or = 18 years) and adult (> 18 years) MS onset. Read More