Metabolic Disorders primarily affecting white matter
Metabolic Disorders primarily affecting white matter
Bhagwan Moorjani
American Society of Neuroimaging
37th Annual Meeting
Disclosure
? Nothing to disclose ? Images were obtained form the following
sources
? Bhagwan Moorjani personal collection ? Barkovich pediatric neuroimaging books and
online ? Amirsys online library ? ? Mary Rutherford Imaging ? AJNR
Radiologic Evaluation
? Does not take into account the clinical presentation ? Age is important to know ? Major symptom is also important to know
? Pattern recognition ? White matter vs gray matter vs mixed ? Need to differentiate between delayed myelination
(improving) or hypomyelination (permanent) ? Confluent or multifocal ? Progressive or static ? Atrophy or edema ? Symmetric or asymmetric
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Clinical Evaluation
? Is it developmental delay or regression
? Global ? Motor ? Speech and language
? Is there a 2nd predominant symptom
? Epilepsy ? Ataxia ? Behavioral changes/cognitive/dementia
Head Circumference
Macrocephalic ? Canavan ? Alexander ? Tay Sachs (GM2
gangliosidosis) ? Vanishing White Matter ? Van der Knaap Disease ? L-2-hydroxyglutaric aciduria ? NF1 ? Hypomelanosis of Ito
Microcephalic/Normal ? ALD ? MLD ? Cockayne Disease ? Pelizaeus Merzbacher
disease ? Zellweger Disease ? Krabbe
White Matter Disorders
? Knowledge of normal myelination pattern is essential
? General rules:
? Caudal to cranial ? Posterior to anterior
? MRI provides the best imaging modality
? T1 matures at 12-14 months ? T2 matures at 24-26 months
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1 month
9 months
36 months
From Alberico
Definitions
? Myelination delay
? progression of myelination pattern after 6 months
? Static/permanent myelination pattern
? Pattern is unchanged on 2 MRIs after 6-12 months apart in children over 1 year of age
MR Imaging Definition
? Leukodystrophy
? T2 W ? hyperintensity ? T1 W ? variable
? Hypomyelinating leukodystrophy
? T2 W ? hyperintensity ? T1 W ? iso or hyperintense
? Demyelinating Leukodystrophy/other myelin
? T2 W ? hyperintensity ? T1 W - hypointense
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White Matter Disorders What structures are involved
? Subcortical U fibers ? Diffuse subcortical involvement ? Thalami involvement ? Brainstem ? particularly corticospinal tract ? Lack of myelination ? Nonspecific white matter pattern
White Matter Disorder
MRI predominance
? Diffuse ? Periventricular ? Subcortical ? Cerebellar ? Brainstem ? Cortex
Subcortical white matter (U- fibers)
? Alexander disease ? Frontal, small NAA peak, large head
? Van der Knaap disease ? Subcortical cyst
? Canavan Disease ? Galactosemia ? Salla Disease
? Free sialic acid in urine ? 4-hydroxybutyric aciduria (6p22.3)
? Cerebellar atrophy ? succinic semialdehyde dehydrogenase deficiency
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Leukodystrophies
? Abnormal signal in white matter ? Symmetric usually ? Periventricular, deep or subcortical in location ? Failure to achieve myelination milestones ? MRS abnormalities reflect neuronal loss and
increased cellular turnover ? Some have contrast enhancement
? ALD: zone of active inflammation ? Alexander: ventricular lining, periventricular rim, frontal
WM, optic chiasm, fornix, BG, thalamus, dentate nucleus
Leukodystrophies Differential Diagnosis
? Radiation and Chemotherapy injury ? Viral encephalitis ? ADEM ? MS ? In neonates: HIE
? Periventricular pattern
Alexander Disease
? Clinical S/S: macrocephaly, seizures ? Mutation: GFAP, Chromosome 17q21 ? Imaging
? Extensive WM changes with frontal predominance ? Abnormal signal in BG and thalami ? Enhancement: ventricular lining, periventricular rim,
frontal WM, optic chiasm, fornix, BG, thalamus, dentate nucleus
? Give contrast to all unknown cases of hydrocephalus and abnormal WM
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