White Matter Pathology

CONDITION LINK TO THE CASES
Metachromatic Leukodystrophy 1 2 3 About the disease At a Glance Notebook
Multiple Sulfatase Deficiency
Globoid Cell Leukodystrophy (Krabbe Disease) 1 2 3
GM1 Gangliosidosis 1
GM2 Gangliosidosis 1
Fabry Disease 1
Mucolipidosis 1
Fucosidosis 1 2 3
Hurler Syndrome 1 2 3
Hunter Syndrome 1
Sanfilippo Syndrome 1
Morquio Syndrome
Maroteaux–Lamy Syndrome
Sly syndrome
Natowicz syndrome
Hyaluronidase 1 (HYAL1) deficiency
Salla Disease (Free Sialic Acid Storage Disorder)
Neuronal Ceroid Lipofuscinoses (Batten Disease / CLN Disorders) 1
Adult Polyglucosan Body Disease
Zellweger Spectrum Disorders 1 2
Peroxisomal D-Bifunctional Protein Deficiency
Peroxisomal Acyl-CoA Oxidase Deficiency
X-linked Adrenoleukodystrophy 1
Refsum Disease
NDUFAF5 1
DNM1L 1
AIFM1 1
POLG Related Disorder 1 2 3 4 5
MELAS (Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes) 1 2 3
Leber Hereditary Optic Neuropathy
Kearns–Sayre Syndrome 1
MNGIE (Mitochondrial Neurogastrointestinal Encephalomyelopathy)
Leigh Syndrome and Mitochondrial Leukoencephalopathies 1
Pyruvate Dehydrogenase Deficiency 1 2
Multiple Carboxylase Deficiency
Metronidazole Toxicity
Inhalational Heroin Leukoencephalopathy ("Chasing the Dragon") 1
Carbon Monoxide Poisoning 1
Vitamin B12 Deficiency
Cerebrotendinous Xanthomatosis
Cockayne Syndrome 1 2 3 4 5 6 7 8
Trichothiodystrophy with Photosensitivity
22Q - DiGeorge/velocardiofacial syndrome 1
HIKESHI 1
Pelizaeus–Merzbacher Disease (PLP1-Related Disorders) 1 2 3 4 5 6 7 8 9 10 11 12 13 14
Pelizaeus–Merzbacher Like Disease 1 2 3 4 5 6 7 8 9 10
Pol III-Related Leukodystrophy (4H Leukodystrophy) 1 2 3 4 5 6 7 8 9 10
Hypomyelination with Congenital Cataracts (HCC) 1 2
Coats Plus Syndrome (Cerebroretinal Microangiopathy with Calcifications and Cysts)
RNASET2-deficient Cystic Leukoencephalopathy
18q– Syndrome (De Grouchy Syndrome) 1 2 3 4 5 6 7
Phenylketonuria
Glutaric Aciduria Type 1 1 2
Propionic Acidemia 1 2
Nonketotic Hyperglycinemia
Maple Syrup Urine Disease 1 2
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Canavan Disease
L-2-Hydroxyglutaric Aciduria 1
D-2-Hydroxyglutaric Aciduria
MTHFR deficiency - Methylenetetrahydrofolate reductase 1
Methylmalonic acidemia 1
Ornithine transcarbamylase deficiency 1 2
Phosphoglycerate Dehydrogenase Deficiency (Serine Synthesis Defect)
Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency
Galactosemia
Sjögren–Larsson Syndrome
Lowe Syndrome 1 2
Wilson Disease 1
Menkes Disease 1 2 3 4 5
About the disease At a Glance Notebook
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Cutaneous Mosaicism (Formerly Hypomelanosis of Ito) 1
Incontinentia Pigmenti 1 2 3
Alexander Disease 1
Giant Axonal Neuropathy
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) 1 2
Recessive Bilateral Frontoparietal Polymicrogyria - ADGRG1 1
LAMA2-Related Muscular Dystrophy 1
Myotonic Dystrophy Type 1 1
Myotonic Dystrophy Type 2
X-linked Charcot–Marie–Tooth Disease
Oculodentodigital Dysplasia 1
Vanishing White Matter Disease (VWM) 1 2 3
Aicardi–Goutières Syndrome 1
Labrune Syndrome (Leukoencephalopathy with Calcifications and Cysts)
DARS2-Related Leukoencephalopathy (LBSL) 1 2 3
TUBB4A-Related Leukoencephalopathy (H-ABC) 1 2 3 4 5 6 7 8 9
Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)
Dentatorubropallidoluysian Atrophy (DRPLA)
Cerebral Amyloid Angiopathy
CADASIL 1 2
CARASIL
Binswanger’s Disease
RVCL-S (Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations)
Nasu-Hakola Disease
Multiple Sclerosis 1
Acute Disseminated Encephalomyelitis (ADEM) 1 2
Neuromyelitis Optica Spectrum Disorder (NMOSD)
MOG Antibody Disease (MOGAD)
Susac Syndrome
CLIPPERS 1
Neurosarcoidosis
HIV-Associated Neurocognitive Disorders
Progressive Multifocal Leukoencephalopathy (PML)
Brucellosis
Neuroborreliosis (Lyme Disease)
Neurosyphilis
Subacute Sclerosing Panencephalitis
Congenital and Perinatal Cytomegalovirus Infection 1 2 3 4
Whipple Disease
Toxic Encephalopathies (general) 1
Methotrexate 1
Vigabatrin 1
Iatrogenic Toxic Encephalopathies
Osmotic Demyelination Syndrome (ODS)
Hypernatremia
Marchiafava–Bignami Disease
Posterior Reversible Encephalopathy Syndrome (PRES) 1 2
Langerhans Cell Histiocytosis 1
Post-Hypoxic–Ischemic Leukoencephalopathy of Neonates 1 2 3
Neonatal Hypoglycemia 1
Delayed Posthypoxic Leukoencephalopathy
White Matter Lesions of the Elderly (Leukoaraiosis)
Cerebral Small Vessel Disease (SVD)
Vasculitis
Dural Arteriovenous Fistula
Chemotherapy/Radiation-Induced Leukoencephalopathy
Diffuse astrocytic glioma with gliomatosis cerebri–like growth pattern
Diffuse Axonal Injury 1
Wallerian Degeneration 1
Posterior Reversible Encephalopathy Syndrome 1 2

Acknowledgements:

I would like to express my sincere gratitude to Dr. Marcelo de Melo Aragão, a Brazilian pediatric neurologist whose expertise and generosity have meaningfully enriched this case collection. Dr. Aragão contributed key cases, including Arcadi-Gutiérrez syndrome, Tay–Sachs disease (late-infantile form), and Wilson disease. His collaboration has helped strengthen the educational value of this page and supports our shared commitment to advancing pediatric neurology and neuroradiology through high-quality case-based learning.