Table 2.
Paediatric neuroinflammatory/neurodegenerative disorders.
| I. ACQUIRED DISEASES: |
|---|
| I.I. Acquired demyelinating syndromes: |
| Acute Disseminated Encephalomyelitis (ADEM)* |
| Associated with optic neuritis |
| Without optic neuritis |
| paediatric multiple sclerosis (MS)* |
| Associated with optic neuritis |
| Without optic neuritis |
| Clinically isolated syndrome (CIS)* |
| Transverse myelitis (TM)* |
| Antibody-mediated demyelinating diseases |
| Neuromyelitis optica spectrum disorder (NMOSD)* |
| NMOSD aquaporine-4 (AQP)-antibody-seropositive |
| NMOSD aquaporine-4 (AQP)-antibody-seronegative |
| Serum antibodies to myelin oligodendrocyte glycoprotein (MOG)-associated demyelination* |
| Associated with optic neuritis |
| Without optic neuritis |
| I.II. Other immune-mediated encephalopathies and epilepsies: |
| Autoimmune (antibody-mediated) encephalitis associated with paraneoplastic and non-paraneoplastic syndromes |
| Antibodies targeting neuronal cell-surface antigens (antibody/complement-mediated immune response) |
| Anti N-methyl D-Aspartate (Anti-NMDA) Receptor Encephalitis* |
| Associated with ovarian teratoma |
| Post-Herpes virus simplex (HSV) anti-NMDAR encephalitis |
| Encephalitis with leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (Caspr2) antibodies |
| Anti-glycine receptor encephalitis |
| Anti-gamma-aminobutyric acid type A (GABAA) receptor encephalitis |
| Anti-gamma-aminobutyric acid type B (GABAB) receptor encephalitis |
| Anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) encephalitis |
| Ophelia syndrome in Hodgkin’s lymphoma |
| Anti-Dopamine Receptor 2 Antibody-Positive Encephalitis |
| Antibodies targeting intracellular antigens (T-cell-mediated neuronal cytotoxicity) |
| Antineuronal nuclear antibody type 1 (Anti-Hu) limbic encephalitis |
| Anti-Ma2 encephalitis |
| Anti-glutamic acid decarboxylase (GAD) encephalitis |
| T cell-mediated encephalopathies |
| Rasmussen encephalitis |
| Hemophagocytic lymphohistiocytosis (HLH) |
| Acute necrotizing encephalopathy of childhood (ANEC) |
| Other autoimmune encephalopathies |
| Hashimoto encephalopathy |
| Opsoclonus myoclonus ataxia syndrome (OMA) |
| Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) |
| Febrile Infection-related epilepsy syndrome (FIRES) |
| Guillain–Barré syndrome |
| Bickerstaff brainstem encephalitis |
| I.III. Paediatric stroke: |
| Childhood primary angiitis of the SNC (cPACNS) |
| Non-progressive (NP) medium-large vessel cPACNS (angiography positive) or focal cerebral arteriopathy (FCA) |
| Progressive (P) medium-large vessel cPACNS (angiography positive) |
| Small-vessel (SV) cPACNS (angiography negative) |
| Secondary paediatric stroke |
| Post-infective paediatric stroke |
| Post-varicella arteriopathy |
| Tuberculosis |
| Vascular dissection |
| Cardioembolic |
| Moyamoya syndrome |
| Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 (congenital) |
| Hypoxic-ischaemic encephalopathy (HIE) or arterial ischaemic stroke in the paediatric population* |
| I.IV. Systemic vasculitis and other rheumatologic diseases: |
| Neuropsychiatric systemic lupus erythematosus (SLE) syndromes (NPSLE) |
| Behçet’s syndrome |
| Granulomatous |
| Childhood-onset neurosarcoidosis |
| Sjögren’s Syndrome |
| Childhood-onset granulomatosis with polyangiitis |
| Microscopic polyangiitis |
| Henoch-Schönlein Purpura |
| Kawasaki disease |
| Juvenile dermatomyositis |
| Childhood morphea |
| Inflammatory bowel disease |
| Antiphospholipid antibody syndrome |
| Celiac disease |
| Mixed connective tissue diseases |
| Macrophage activation syndrome related to juvenile idiopathic arthritis |
| Susac syndrome |
| Drug induced vasculitis |
| Paraneoplastic vasculitis |
| Autoinflammatory diseases |
| Interferonopathies |
| Hemophagocytic lymphohistiocytosis |
| I.V. Infections: |
| Postinfectious encephalopathies |
| Subacute sclerosing panencephalitis |
| Postmycoplasma basal ganglia encephalitis |
| Post-Herpes simplex virus encephalitis movement disorder |
| Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) |
| Paediatric acute-onset neuropsychiatric syndrome |
| Encephalitis lethargica |
| Progressive rubella syndrome |
| Progressive multifocal leukoencephalopathy |
| Sydenham Chorea after a group A beta-haemolytic streptococcal infection |
| Postinfection cerebellitis |
| Whipple disease |
| Bacteria |
| Borrelia burgdorferi |
| Listeria monocytogenes |
| Mycoplasma pneumonia |
| Mycobacterium tuberculosis |
| Treponema pallidum – Neurosyphilis |
| Viruses |
| Adenovirus |
| Enterovirus |
| Epstein-Barr virus |
| Human immunodeficiency virus* |
| Human T-cell lymphotropic virus type 1 |
| Influenza |
| SARS COVID-19 |
| Measles |
| Rabies |
| Rubella |
| Varicella zoster virus |
| West Nile virus |
| Parasites |
| Malaria |
| Neurocysticercosis |
| I.VI. Neoplastic: |
| Primary SNC neoplasms |
| Astrocytoma |
| Lymphoma |
| Medulloblastoma |
| Systemic neoplasms affecting SNC |
| Paraneoplastic syndromes |
| Metastatic syndromes |
| Langerhans cell histiocytosis |
| Secondary neoplasms and other disorders related to radiation/chemotherapy treatment |
| I.VII. Toxic and medication-associated disorders: |
| Medications |
| Metronidazole |
| Cyclosporine |
| Antiepileptic drugs |
| Recreational drugs |
| Alcohol |
| Marijuana |
| Synthetic cannabinoids |
| Cocaine |
| Opioids |
| Methamphetamines |
| Poisoning/accidental ingestions |
| Ethylene glycol |
| Methanol |
| Inhalants |
| Chronic lead poisoning |
| Radiation |
| Chemotherapy |
| e.g. Methotrexate, cyclosporine, cytosine-arabinoside |
| I. VIII. Acquired metabolic, endocrine and nutritional disorders: |
| Vitamin B12, vitamin E or folate deficiency |
| Hepatic encephalopathy |
| Wernicke–Korsakoff syndrome |
| Hypothyroidism |
| Extrapontine myelinolysis |
| I.IX. Child abuse and trauma |
| II. CONGENITAL DISORDERS OR GENETICALLY DETERMINED DISORDERS |
| II.I Disorders that affect white matter predominantly (Leukodystrophies or leukoencephalopathies):* |
| Myelin disorders |
| Pelizaeus-Merzbacher disease |
| Waardenburg-Hirschsprung |
| Metachromatic leukodystrophy |
| Multiple sulfatase deficiency |
| Krabbe disease |
| X-Linked adrenoleukodystrophy |
| Phenylketonuria and other aminoacidopathies |
| Canavan disease |
| Cx32-related Charcot-Marie-Tooth disease |
| Astrocytopathies |
| Alexander disease |
| Megalencephalic leukoencephalopathy |
| CIC-2 related disease |
| Vanishing white matter disease |
| Aicardi-Goutières syndrome |
| Cx-43-related oculodentogenesis dysplasia |
| Leuko-axonopathies |
| Hypomyelination with atrophy of basal ganglia and cerebellum |
| Hypomyelination with congenital cataract |
| GM1 and GM2 gangliosidosis |
| AGC1 related diseases |
| AIMP1-related diseases |
| HSPD1-related disease |
| Pol-III-related leukodystrophies |
| Leukoencephalopathy with brainstem and spinal cord involvement and high lactacte |
| Giant axonal neuropathy |
| Microgliopathies |
| CSD1R-related disorders |
| Nasau-Hakola disease |
| Leukovasculopathies |
| Cerebral arteriopathy with subcortical infarcts and leukoencelopathy |
| Cerebral amyloid angiopathy |
| Capthesin A-related arteriopathy with strokes and leukoencephalopathy |
| Leukoencephalopathy with calcifications and cysts |
| II.II Disorders that affect grey matter predominantly (Poliodystrophies): |
| Monogenic early onset epileptic encephalopathies and progressive myoclonus epilepsies |
| Dravet syndrome |
| Unverricht/Lundborg disease |
| Lafora disease |
| KCTV7-related epilepsies |
| Rett syndrome |
| Lysosomal storage diseases |
| Neuronal ceroid lipofuscinosis group* |
| CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN10, CLN14 |
| Nieman Pick type C disease* |
| Sialidosis type 1 |
| Fabry disease |
| Gaucher’s disease |
| Mucopolysaccaridoses |
| Alsin-related disorders |
| Infantile ascending hereditary spastic paraplegia |
| Juvenile primary lateral sclerosis |
| Autosomal recessive juvenile amyotrophic lateral sclerosis |
| Hereditary spastic paraplegia |
| Menkes disease |
| II.III. Disorders with prominent involvement of basal ganglia: |
| Neurodegeneration with brain iron accumulation disorders (NBIA) |
| Pantothenate kinase-associated neurodegeneration (PKAN) |
| Phospholipase-associated neurodegeneration (PLAN) |
| Infantile neuroaxonal dystrophy (INAD) |
| Atypical infantile neuroaxonal dystrophy (aINAD) (Karak syndrome) |
| Neuroferritinopathy (NFT) |
| Mitochondrial membrane protein–associated neurodegeneration (MPAN) |
| β propeller protein–associated neurodegeneration (BPAN) |
| COASY protein–associated neurodegeneration (CoPAN) |
| Aceruloplasminemia |
| Fatty acid dehydroxylase–associated neurodegeneration (FAHN) |
| Woodhouse–Sataki syndrome |
| Kufor–Rakeb disease (PARK 9) |
| Biotin-thiamine-responsive basal ganglia disease |
| Monogenic heredodegenerative dystonia |
| Inherited disorders presenting with chorea |
| Huntington disease |
| VPS 13A-Choreo-acanthocytosis |
| Infantile onset striatal necrosis |
| Organic acidurias |
| Glutaric aciduria type 1 |
| Homocystinuria |
| Propionic aciduria |
| Hydroxybutyric aciduria |
| Methylmalonic aciduria |
| Glut-1 deficiency syndrome |
| Wilson disease |
| Lesch-Nyhan disease |
| II.IV. Disorders with prominent involvement of brainstem and cerebellum or paediatric movement disorders: |
| Infantile-onset Spinocerebellar ataxia (IOSCA)* |
| e.g. SCA2 (CAG repeat occurs over 200), SCA3 (Larger expansion), SCA7, SCA12, SCA13, SCA14, SCA27 |
| Ponto-cerebellar hypoplasia |
| Friedreich ataxia |
| Ataxia telangiectasia |
| Marinesco-Sjögren Syndrome |
| II.V. Disorders with prominent involvement of spinal cord, cranial and peripheral nerves: |
| Spinal muscular atrophy |
| Hereditary motor and sensory neuropathies |
| Refsum disease |
| Alstrom syndrome |
| II.VI. Disorders with prominent involvement of skeletal muscles: |
| Dystrophinopathies |
| Duchenne muscular dystrophy |
| Becker muscular dystrophy |
| Congenital myotonia |
| Neonatal onset myotonic dystrophy |
| II.VII. Mitochondrial encephalopathies: |
| Alpers disease |
| Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes MELAS |
| DNA polymerase gamma (POLG)-related disorders |
| Leigh syndrome |
| Dystonia-deafness syndrome |
| Myoclonic epilepsy with ragged red fibres (MERRF) |
| Leber hereditary optic neuropathy (LHON) |
| Kearns-Sayre syndrome |
| II.VIII. Other inherited disorders: |
| Sickle cell disease |
Highlighted conditions indicate articles, reviewed for this paper, which described OCTs.