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Front Immunol 2022 2;13:887041. Epub 2022 May 2.

Department of Pediatrics, The Second Xiangya Hospital of Central South University, Changsha, China.

Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disease (CTD), the main features of which are multiple serum autoantibodies and extensive involvement of multiple systems. The onset age of patients varies from childhood to middle age, with nearly 1/5 in childhood. Sjogren's syndrome (SS) is also an autoimmune disease characterized by high-degree lymphocytic infiltration of exocrine glands, usually occurring in middle-aged and older women, and rarely in childhood. Read More

Mult Scler Relat Disord 2022 Mar 4;59:103662. Epub 2022 Feb 4.

Department of Pediatrics and Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Inflammatory demyelinating diseases of the central nervous system (CNS) in childhood include clinically and radiologically defined diseases such as acute disseminated encephalomyelitis (ADEM), multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein antibody-associated disorder (MOGAD). Differentiation between these phenotypes can be difficult and cases not meeting established diagnostic criteria may remain without any specific diagnosis for months. Laboratory markers can assist in the diagnosis and management of these diseases. Read More

Mult Scler Relat Disord 2022 Feb 13;58:103526. Epub 2022 Jan 13.

Second Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China.

Background And Purpose: Myelin oligodendrocyte glycoprotein antibodies (MOG-Abs) are detected at a high rate in childhood of acquired demyelinating syndrome (ADS), but the spectrum and characteristics of MOG-Abs-associated disorders (MOGAD) in children are to be determined. This study aimed to identify clinical features in Chinese children with MOGAD.

Methods: Of 48 children in whom MOGAD were diagnosed in our hospital, we analyzed the manifestations, laboratory test results, imaging characteristics, autoimmune antibodies in cerebrospinal fluid and serum, and response to treatment. Read More

Transl Pediatr 2021 Oct;10(10):2459-2466

Department of Paediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Childhood neuromyelitis optica spectrum disorders (NMOSDs) may cause visual impairment and brain or spinal cord damage, and the effects may be permanent if left untreated. Since the incidence of NMOSD cases in children is relatively low, the understanding of NMOSD among children is inadequate.

Methods: This investigation examined the clinical and neuroimaging characteristics of childhood NMOSD. Read More

Dev Med Child Neurol 2022 04 24;64(4):502-508. Epub 2021 Oct 24.

Department of Neurology, Birmingham Children's Hospital, Birmingham, UK.

Aim: To describe a 10-year follow-up of children (<16y) with acquired demyelinating syndromes (ADS) from a UK-wide prospective surveillance study.

Method: Diagnoses were retrieved from the patients' records via the patients' paediatric or adult neurologist using a questionnaire. Demyelinating phenotypes at follow-up were classified by an expert review panel. Read More

Medicine (Baltimore) 2021 Jul;100(29):e26231

Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, No.325, Section 2, Chenggong Rd., Neihu District, Taipei, Taiwan.

Rationale: Neuromyelitis optica spectrum disorders (NMOSD) is a rare autoimmune disease predominantly involving optic nerves and spinal cord, and possible comorbidities including syndrome of inappropriate antidiuretic hormone secretion or urinary complication. We reported a young girl diagnosed with NMOSD presented with refractory hyponatremia, acute urine retention, and general weakness. Clinical symptoms improved gradually after receiving intravenous immunoglobulin, high-dose methylprednisolone, and plasmapheresis. Read More

Turk J Pediatr 2021 ;63(3):417-426

Private Practice, Ankara, Turkey.

Background: To evaluate the demographic, etiological, and clinical properties, as well as the treatment modalities of neuro-ophthalmological diseases in childhood.

Methods: We retrospectively analyzed the clinical data of patients younger than 18 years old who were referred to the Neuro-Ophthalmology Department of Ulucanlar Eye Hospital from 2004 to 2019.

Results: Of 1,910 patients who presented to the Neuro-Ophthalmology Department, 128 (6. Read More

Arch Dis Child 2022 03 6;107(3):216-222. Epub 2021 Jul 6.

Children's Neurosciences, Evelina London Children's Hospital, London, UK.

There are several important relapsing demyelinating syndromes (RDS) that may present in childhood, of which paediatric-onset multiple sclerosis is the most common. These are rare conditions, so recognising presentations and referring early to specialist services is important to enable prompt diagnosis and effective treatment. Understanding of RDS is rapidly evolving, with many new and effective treatments that aim to reduce relapses and disability accumulation. Read More

Acta Neurol Belg 2021 May 10. Epub 2021 May 10.

Department of Pediatric Neurology, Cerrahpasa School of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.

To evaluate the clinical and neuroimaging features of pediatric acquired demyelinating syndromes (ADS) in a tertiary pediatric neurology clinic in Turkey. All children diagnosed with any subset of ADS between 2013 and 2018 were included in this retrospective cohort study. Forty-two patients (21 female) with a median follow-up period of 30 months were included. Read More

Autoimmun Rev 2021 May 14;20(5):102801. Epub 2021 Mar 14.

Neuroradiology of the Radiology Department UNICAMP, Brazil; UNICAMP, Brazil.

Multiple sclerosis (MS) is a chronic, immune-mediated, neurodegenerative disorder of the central nervous system (CNS).While the clinical symptoms of MS most commonly manifest between 20 and 40 years of age, approximately 3 to 10% of all MS patients report that their first inaugural events can occur earlier in life, even in childhood, and thus include the pediatric population. The prevalence of MS onset in childhood/adolescence varies between 2. Read More

Turk J Pediatr 2020 ;62(6):1094-1098

Divisions of Pediatric Infectious Diseases, Department of Pediatrics, Bursa Yüksek İhtisas Research and Training Hospital, Bursa, Turkey.

Background: The estimated incidence of central nervous system involvement in brucellosis ranges between 0 and 17.8%. Optic neuritis is infrequently seen in the clinical presentation of neurobrucellosis. Read More

Acta Neurol Belg 2021 Feb 24;121(1):231-239. Epub 2020 Nov 24.

Division of Child Neurology, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey.

Anti-myelin oligodendrocyte glycoprotein antibodies have been associated with a wide range of clinical presentations including monophasic and relapsing disease courses. Lack of a definitive marker for predicting further relapses and the final diagnoses complicates the clinical follow-up and treatment decisions for patients with the first episode. This study retrospectively analyzed the clinical spectrum, treatment protocols and outcome of nine children with MOG antibody-associated demyelinating disease. Read More

Pediatr Hematol Oncol 2021 May 23;38(4):397-402. Epub 2020 Oct 23.

Department of Pediatrics, Royal Aberdeen Children's Hospital, Aberdeen, UK.

We present the case of a 13 year old boy, with sudden onset painful unilateral visual loss, prior to commencing chemotherapy for alveolar rhabdomyosarcoma. Cases of para-neoplastic optic neuritis have been reported in adult cancer patients, however there are no published reports of this phenomenon occurring in children. Our patient had full recovery of his vision, following 6 weeks treatment with steroids, immunoglobulins and standard chemotherapy as per high risk arm of European pediatric soft tissue sarcoma group (EpSSG) Rhabdomyosarcoma (RMS) 2005 guidelines. Read More

AJR Am J Roentgenol 2021 04 17;216(4):1031-1039. Epub 2021 Feb 17.

Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University Medical Institution, 600 N Wolfe St, Phipps B112D, Baltimore, MD 21287.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a distinct CNS inflammatory disease with symptoms and imaging findings that overlap other neuroinflammatory disorders. We highlight the imaging characteristics of MOGAD and contrast them with neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS). Intracranial features that suggest MOGAD include childhood acute disseminated encephalomyelitis pattern with diffuse signal abnormality in the cortical gray matter, subcortical white matter, deep white matter, and deep gray matter on T2-weighted and FLAIR images; few bilateral T2-hyperintense fluffy and poorly demarcated lesions; pontine or thalamic involvement (or both); and cerebellar peduncle lesions in children. Read More

Dev Med Child Neurol 2020 11 4;62(11):1250-1258. Epub 2020 Aug 4.

Department of Neurology, Great Ormond Street Hospital for Children, London, UK.

Aim: To: (1) provide greater insight into the psychological and social impact of a range of demyelinating disorders, (2) explore differences between disorders, and (3) provide direction for future research.

Method: Studies were identified by searching online databases. Studies that explored the psychological, emotional, or social impact of a range of demyelinating disorders in childhood, including acute disseminated encephalomyelitis (ADEM), optic neuritis, transverse myelitis, and multiple sclerosis, were included and screened independently by three authors. Read More

Front Neurol 2020 15;11:415. Epub 2020 May 15.

Department of Pediatric Neurology, Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany.

Neuromyelitis optica spectrum disorders (NMOSD) are severe inflammatory demyelinating disorders of the central nervous system mainly characterized by recurrent episodes of uni- or bilateral optic neuritis (ON), transverse myelitis (TM) and brainstem syndromes (BS). The majority of adult patients has serum antibodies directed against the water channel protein aquaporin 4 (AQP4-abs). In pediatric patients, AQP4-abs are less, while antibodies against myelin oligodendrocyte glycoprotein (MOG-abs) are more frequently detectable than in adults. Read More

J Clin Neurol 2020 Jul;16(3):461-469

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

Background And Purpose: The myelin oligodendrocyte glycoprotein (MOG) antibody is detected at a high rate in childhood acquired demyelinating syndrome (ADS). This study aimed to determine the diagnostic value of the MOG antibody in ADS and the spectrum of MOG-antibody-positive demyelinating diseases in children.

Methods: This study included 128 patients diagnosed with ADS (=94) or unexplained encephalitis (=34). Read More

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

Mult Scler Relat Disord 2020 Jan 1;37:101488. Epub 2019 Nov 1.

Perelman School of Medicine at University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA, 19104, United States; Department of Pediatrics, Division of Infectious Disease, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia PA, 19014, United States.

Background: Neuromyelitis optica spectrum disorder (NMOSD) is a rare demyelinating disease in need of more studies to determine effective treatment regimens. The rarity of the disorder, however, makes large randomized-controlled trials challenging. Validation of the International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) code for NMO could facilitate the use of large healthcare claims data for future research. 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