Pediatric White Matter Disease


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Pediatric White Matter Disease

  1. 1. Predominately Subcortical White Matter (early involvement of U-fibers) Macrocephalic NormocephalicCanavan Disease: Alexander Disease: Van der Knaap Disease (Megaloencephalic Vanishing White Matter Disease:Ashkenazi Jews, hypotonia (head Seizures, developmental delay, spasticity Leukoencephalopathy with Cysts): Initially normal motor function withlag), seizures, spasticity WM: ANTERIOR- Macrocephaly, seizures, ataxia, spasticity relapsing/remitting but progressive ataxia/spasticityWM: NEAR-COMPLETE, subcortical/deep PREDOMINANT, subcortical/deep/periventricular WM: Subcortical with central sparing WM: subcortical, deep, & periventricular;GM: thalami, globi pallidi GM: basal ganglia DWI: Increased proton movement ISOINTENSE TO CSF ANTERIOR & FRONTOPARIETAL SUBCORTICAL CYSTSMRS: ↑NAA peak ENHANCEMENT Zellweger (Cerebrohepatorenal) Syndrome: Galactosemia: Kearns-Sayre Disease: Homocystinuria: Pelizaeus-Merzbacher disease: Facial dysmorphism, mental Vomiting, ↑intracranial pressure, hepatic MITOCHONDRIAL INHERITANCE Marfanoid body habitus, osteoporosis, mental Spasticity, abnormal eye/extrapyramidal retardation, hypotonia, hepatic dysfunction, hepatomegaly retardation movements, mental retardation OPHTHALMOPLEGIA dysfunction/jaundice, small renal cortical cysts WM: diffuse subcortical/periventricular WM: Subcortical & deep (anterior limb internal WM: NEAR-COMPLETE subcortical & deep with WM: subcortical with deep sparing WM: subcortical/deep (internal capsule) ASSOCIATED LIVER DISEASE capslule “TIGROID or LEOPARD” appearance due to sparing GM: globi pallidi/thalami/dorsal medulla of perivascular spaces GM: globi pallidi GM: basal ganglia spared DWI: restricted diffusion MRS: ↑lipid peak BILATERAL INFERIOR (vs superior in Marfan’s) LENS MRS: ↑Lactate peak/↓NAA peak DISLOCATION (ECTOPIA LENTIS); INFARCTS POLYMICROGYRIA/PACHYGYRIA, SUBEPENDYMAL GERMINOLYTIC CYSTS IN CAUDOTHALAMIC BASAL GANGLIA/THALAMIC CA++ GROOVE
  2. 2. Predominately Deep White Matter (early sparing of U-fibers) Thalamic (Gray Matter) Involvement No Thalamic InvolvementKrabbe’s Disease: Gangliosidosis GM1 & GM2 (Tay-Sachs &3-6 months, hypertonia, irritability Sandhoff):WM: deep cerebral & cerebellar Cherry-red macula, hypotonia, mental retardation, seizures, spasticityGM: thalami, basal ganglia, cerebellar No Brainstem (Corticospinal Tract) WM: periventricular Brainstem (Corticospinal Tract) Involvementdentate nuclei InvolvementHYPERDENSE THALAMI HYPERDENSE THALAMI X-linked Adrenoleukodystrophy: Maple Syrup Urine Disease: Metachromatic Leukodystrophy: Mucopolysaccharidoses Other: Adolescent , learning difficulty (ADHD), skin Neonate (< 1 wk) with vomiting, dystonia, & 1-1.5 yrs, ↓motor/mentation (Hurler’s, Hunter’s, Morquio’s): Lowe (Oculocerebrorenal) Disease hyperpigmentation, adrenal seizures WM: symmetric deep/periventricular with Macrocephalic, thick meninges Phenylketonuria failure, ataxia, seizures WM: deep cerebellar, cerebral “TIGROID or LEOPARD” appearance due to WM: RADIATING PERIVENTRICULAR & Merosin-deficient m. dystrophy WM: POSTERIOR PERITRIGONAL WITH peduncle, globi pallidi, & dorsal pons sparing of perivascular spaces; POSTERIOR CORPUS CALLOSAL CYSTIC AREAS (dilated LEADING EDGE OF GM: globi pallidi PREDOMINANCE; NO ENHANCEMENT perivascular spaces) ENHANCEMENT, SYMMETRIC, pons/medulla involved DWI: RESTRICTION OF DIFFUSION
  3. 3. Predominately Gray Matter Deep Gray Matter Cortical Gray Matter Leukodystrophy MimicsLeigh Disease: MELAS: Other: Neuronal ceroid lipofuscinoses:MITOCHONDRIAL MITOCHONDRIAL Organic Acidopathies Vision failure, progressiveRespiratory Myopathy, Encephalopathy, Lactic Amino acid metabolic disorders dementia, seizures Inflammatory Processes White Matter Injuryfailure, ataxia, visual/auditory Acidosis, Strokes Cerebral/cerebellarproblems, weakness WM: subcortical, brainstem, deep atrophy, thalami/globi pallidiBILATERAL SYMMETRIC T2/FLAIR cerebellum involvementHYPERINTENSITY & RESTRICTION OF GM: basal gangliaDIFFUSION IN PUTAMINA Mucolipidosis type I: MIGRATING INFARCTS MC IN PARIETOOCCIPITAL CORTEX Neonatal (< 1 wk) presentation Subacute Sclerosing Acute Disseminated Lyme Disease: Radiation Injury: Periventricular Leukomalacia Panencephalitis: Encephalomyelitis: WM: sparing of subcortical U- (WM Injury of Prematurity): Imaging findings simulate MEASLES INFECTION Multifocal punctate to large multiple sclerosis in a patient fibers; scalloped margins Spastic diplegia, visual/cognitive flocculent T2/FLAIR hyperintesnse with skin rash, flu-like DISTRIBUTION RELATES TO XRT impairment, associated with WM/basal ganglia lesions, which symptoms, &/or joint pain FIELD (unless whole-brain XRT) PROM/TORCH Progressive Multifocal may enhance Leukoencephalopathy: 6-8 MONTHS FOLLOWING XRT Mechanism: ischemic injury to 10-14 DAYS FOLLOWING VIRAL watershed area JC PAPOVAVIRUS INFECTION TORCH: ILLNESS OR IMMUNIZATION WM: deep/periventricular with Microcephaly, variable (typically cystic change & volume loss asymmetric) WM demyelination &/or gliosis, periventricular Thin corpus callosum, undulating Ca++, subependymal cysts ventricular margin, enlarged ventricles
  4. 4. Axial T2WI in a child withCanavan disease showsperiventricular, deep, andsubcortical WMinvolvement, plus thalami(white arrow) and globi pallidi(white curved) involvement;very characteristic.
  5. 5. X-linked adrenoleukodystrophy with preferential involvement of descending pyramidal tract A-C. T2-weighted imageshows demyelination of internal capsule, descending pyramidal tract (arrows, A) and cerebellar deep white matter(arrows, B). The peritrigonal white matter is relatively spared(C). D. On gadolinium-enhanced T1-weightedimage, enhancing bilateral descending pyramidal tracts (arrows) are shown.
  6. 6. Coronal T2WI MR in another case ofmetachromatic leukodystrophy showscharacteristic diffuse deep andperiventricular white matterinvolvement, with sparing of thecerebellar white matter (white arrow). Coronal FLAIR MR shows bilateral and symmetric periventricular and deep white matter signal abnormality but sparing of sub-cortical U-fibers (white arrow) in child with metachromatic leukodystrophy.
  7. 7. Axial T2WI shows diffuse highsignal in the centrum semiovalewith sparing of the subcortical U-fibers, typical of treatmentrelated leukoencephalopathy.Patient is s/p whole brain XRT.