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