pediatric neuroimaging in epilepsy - american society of … annual meeting/handouts... · ·...
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Pediatric Neuroimaging inEpilepsy
Bhagwan Moorjani, MD, FAAP, FAANHope Neurologic Center
La Quinta, CA
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Neuroimaging in Childhood
• Neuroimaging issues are distinct from adults
• Sedation/anesthesia• Motion artifacts• Requires knowledge of normal CNS
developmental (i.e. myelin maturation)• Contrast media• Parental anxiety
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Diagnostic Approach• Age of onset• Static versus Progressive
– Look for treatable causes– Do not overlook abuse, Manchausen if all is negative
• Phenotype presence (syndromic, Head Circumference, Neurocutaneous Syndrome, systemic involvement)
• Predominant symptom (Epilepsy, developmental delay, weakness/motor, psychomotor regression, cognitive/dementia)
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Neuroimaging in Epilepsy
• Peak incidence in childhood• Occurs as a co-morbid condition in many
pediatric disorders (birth injury, dysmorphism, chromosomal anomalies, developmental delays/regression)
• Many neurologic disorders in children have the same chief complaint
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Congenital Malformation
• Characterized by their anatomic features• Broad categories: based on embryogenesis
– Stage 1: Dorsal Induction: Formation and closure of the neural tube. (Weeks 3-4)
– Stage 2: Ventral Induction: Formation of the brain segments and face. (Weeks 5-10)
– Stage 3: Migration and Histogenesis: (Months 2-5)– Stage 4: Myelination: (5-15 months; matures by 3
years)
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Etiology of Epilepsy: Developmental and Genetic Classification of
Cortical Dysplasia1. Secondary to abnormal neuronal and
glial proliferation/apoptosis 2. Secondary to abnormal neuronal
migration 3. Secondary to abnormal cortical
organization or late migration 4. Not otherwise classified
• IEM• Other unclassified dysplasia
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Gray Matter Heterotropia• displaced masses of nerve cells
(gray matter)• most common: small nest
adjacent to lateral ventricles• Range from nodular to band
heterotropia to schizencephaly, lissencephaly and polymicrogyria
• clinical: seizures• MRI: isointense with gray
matter in all sequence
• Subependymal heterotropia (most common)
• Band heterotropia (double cortex)
• Lissencephaly• Cobblestone cortex (lis 2)• Subcortical heterotropia
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Subependymal heterotropia
T1W – multifocal GM nodules lining lateral ventricle, also in the frontal WM
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Subcortical heterotropia
T2W – blurred curvilinear line extending from cortex to ventricular surface
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Polymicrogyria
• multiple abnormal tiny indentation along brain surface (5-7mm)
• abnormal cortical histology
• can be unilateral• MRI: decreased
number of broad, thick, smooth gyri
T2W – blurring of gray white junction (open arrow)Nodular appearance
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polymicrogyria
T2W - Bilateral perisylvian/suprasylvian polymicrogyria
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Polymicrogyria
T1W – irregular interface with adjacent white matter
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Double cortex
decreased sulcationprimitive sylvian fissure (open arrow), Thick band of incompletely migrated cortex (arrow)
T2W –
Cortex inversely proportional to
band heterotropia
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Double cortex
T1W - asymmetry of paramedial parietal regionHeterotropic Gray matter
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Double cortex
T1W - GM heterotropia right parieto-occipital region (open arrow)Thinning of overlying cortex (arrow)
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Double cortex6 month old with seizures
T2W – thin band of GM in the deep white matter
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Pachygyria• thick and more completely developed gyri• commonly diffused with relative sparing of
temporal lobes• associated with: agenesis of CC and
heterotopias• clinical: microcephaly, seizures, MR,
developmental delay• MRI: circumferential band of high signal on T2
within the cortex
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Lissencephaly
• Severe form of neuronal migration Disorder• Can be seen in:
– Isolation – Miller Dieker Syndrome– TORCH infection (CMV)
• Clinical S/S:– Mental Retardation– Intractable Epilepsy– Microcephaly
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Lissencephaly Imaging
• Hourglass or figure of 8– Shallow sylvian fissure
• LIS 1: parietal-occipital• X-LIS: Subfrontal/temporal• 3 layers may be seen in neonates on T2W
– Outer layer – thin, smooth– Intervening cell sparse layer– Deeper thick layer – mimicking band
heterotropia• Posterior > Anterior involvement in LIS 1
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lissencephalyT2W – complete absence of cerebral sulcation
Cerebellum is normal
Hyperintensecell sparse zone separates the thin cortical ribbon from the thicker band of disorganized neurons
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Miller DiekerT1W
Typical midline calcification
Thin outer GM layer
Cell sparse WM layer
Thick inner GM band
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Lis 1T2WSevere parietal-occipital involvement(Classic pattern)Cell sparse WM layer posteriorly
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Agyria
• Complete lissencephaly
• Smooth brain
Identified by figure eight due to shallow sylvian fissures.
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Schizencephaly
• Gray matter- lined cleft that extends from the ventricular ependyma to the pia.
• Unilateral or bilateral• Two types:
– Closed lip (type I)– Open lip (type II)
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Schizencephaly Imaging
• Transmantle gray matter lining clefts– Dimple in wall of ventricle if closed or narrow
• Frontal and Parietal lobes near central sulcus
• Distinction of GM lining cleft can be difficult prior to myelination
• DVA overlie cleft seen on MRV
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SchizencephalyDifferential Diagnosis
• Porencephaly– Lined by gliotic white matter– No dysplastic gray matter
• Semilobar Holoprocencephaly– Can mimic bilateral open lip schizencephaly
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Schizencephaly
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Schizencephaly
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Schizencephaly
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Hemimegalencephaly
• Primary hamartomatous malformation• Onset usually in neonatal period• Catastrophic• One type of onset is Tonic Seizure (Ohtahara
Syndrome)• Can be asymmetric and often precede or
overlap with West Syndrome (IS)• IS= 50%
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Hemimegalencephaly• No differences between Isolated or Syndromic
type.• Plain Skull Films: look for macrocrania &
asymmetry. • May see intracranial calcifications & bony
dysplasia• US: prenatal may suggest HME, may see
macrocephaly, ventricular asymmetry with enlargement of lateral ventricle– Postnatal: may see unilateral ventricular dilation with
hemispheric enlargement
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Hemimegalencephaly Imaging• CT & MRI:
– Gross asymmetry– 1 hemisphere enlarged
• Posterior falx and occipital pole displaced to contralateral side
– Dysplastic Cortex– Asymmetry of Ventricular System
• 4 points of abnormal ventricle.– 1. Straightened frontal horns (pointed)– 2. mild-extreme dilation of lateral ventricle– 3. reverse of contralateral horn (mass effect appearance)– 4. colpocephaly (disproportionate developmental dilation of
occipital horn of lateral ventricle) in all grades of HME
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Hemimegalencephaly
FLAIR – bright signal in WM of abnormal hemisphereThe only disorder that enlarges both hemisphere and ipsilateral ventricle
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FCD with Balloon Cells
• Abnormal gyral pattern when large• Blurring of gray-white junction• Abnormal tissue: cortex to border of lateral
ventricle• Typically associated with TS• Solitary – no other TS features• T2 hyperintense “comet tail” from cortex to
ventricle– Best seen on flair
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FCD - Balloon Cell
PD FSE – focal thickening with increased signal of expanded gyrus
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FCD with balloon cellT2W – juxtacortical signal changeThin line of signal change tracking along the expected Course of the radial glial fibers
to the Subependymal margins
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FCD with balloon cell
FLAIR – gyral expansion and thin signal change extending to the ventricle
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DNET• Intractable epilepsy• Focal deficits• More common 2nd and 3rd decade• Considered part of abnormal neuronal/glial
proliferation - neoplastic• MRI Findings:
– T1 hypointense– T2 hyperintense– Modest to no enhancement– Scalloping– Lack of mass effect, edema
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DNETT2W – 5 year old with seizures
Multicentric bubbly DNET with involvement of body of the caudate nucleus
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DNETFLAIR –characteristic appearance
Cortically based, sharply demarcated wedge shaped mass with hyperintense rim
Points towards the ventricle
No edema
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DNETT1W-C+
Cystic component with multiloculated appearance
No solid enhancement
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Metabolic Epilepsies
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MRI Features of Metabolic Diseases
• Common Abnormalities– Atrophy– Symmetry
• Infrequent– Enhancement
• Myelination abnormalities• Malformation
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Neurometabolic-Degenerative 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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Neurometabolic-Degenerative Disorders• Type of myelination involvement
– Delayed myelination– Demyelination– Dysmyelination
• Nervous system involvement– Brainstem involvement– Cerebellar involvement– Spinal Cord involvement
• Tissue Involvement– Gray matter involvement– White matter involvement
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1 month
9 months
36 months
From Alberico
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Factors to Consider
• Age of Onset• Degree of derangement• Abnormal metabolite
– Deficiency or excess• Stage of the disease process• Phenotype
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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
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LeukodystrophiesDifferential Diagnosis
• Radiation and Chemotherapy injury• Viral encephalitis• ADEM• MS• In neonates: HIE
– Periventricular pattern
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Head CircumferenceMacrocephalic• Canavan• Alexander• Tay Sachs (GM2
gangliosidosis)• L-2-hydroxyglutaric
aciduria
Microcephalic/Normal• MLD• Pelizaeus Merzbacher
disease• Zellweger Disease• Krabbe
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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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Alexander DiseaseT1W-C+:Enhancement of the periventricular rim,caudate heads and putamen bilaterally
Rabbit ear – characteristic of AlexanderNodular appearance of frontal PV rim
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Alexander Disease
FLAIR – less severe diseaseHigh signal in the anterior and posterior rims and WM with frontal predominance
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Alexander Disease T1W-C+ - enhancement of bifrontal PV WM, PV rim and caudate head.Less intense patchy enhancement in putamen and thalamus
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Alexander Disease
T2W – advanced diseaseSymmetric, hyperintense cerebral WM and deep gray structuresSwollen caudate head and fornicesHyperintensity in external and extreme capsule – claustra stands out
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Alexander Disease
FLAIR – large foci of cystic destruction in frontal WM and caudate headThese are late findings
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Canavan Disease
• Clinical S/S: Macrocephaly, hypotonia• Imaging:
– Diffuse T2 hyperintensity preferentially involves subcortical U fibers
– Spares internal capsule and corpus callosum– Involves thalamus, globus pallidus + dentate– Spares caudate and putamen– MRS shows marked elevation of NAA peak
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Canavan Disease
T2W – diffuse cerebral WM hyperintensity. Involvement of subcortical U fibers
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Canavan DiseaseT2W – 6 month oldDiffuse increase signal cerebral WM including thalamus and right globus pallidusSparing of internal capsule, CC and putamen
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Canavan DiseaseT2W: infantMarked hyperintense signal and swelling throughout WMStriatum as island of tissue
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Canavan DiseaseDifferential Diagnosis
• Maple Syrup Urine Disease– Elevated branch chain AA
• Pelizaeus-Merzbacher Disease– Spares GP and thalami
• Alexander Disease– Enhances– Predominantly frontal WM
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Hypomyelination Disorder
• Areas to assess: internal capsule, pyramidal tracts, peripheral frontal lobe WM
• T1 signal reflects presence of myelin– Children < 10 months– Myelinated WM - hyperintense
• T2 reflects displacement of water– Children > 10 months– Mature WM - hypointense
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Pelizaeus-Merzbacher Disease
• Clinical S/S: microcephaly, hypertonia, stridor
• Deficiency of proteolipid protein (PLP)• Hypomyelination disorder• Imaging
– Variable – Nonspecific and symmetrical abnormality of
WM– Lack of myelin
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Pelizaeus-Merzbacher DiseaseT2W: 13 year oldabsence of normal hypointense WM signal
This is normal for a 6-8 month old child
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HypomyelinationT2W – 2 year old•Diffuse lack of T2 hypointense myelin in deep WM, corpus callosumand internal capsule
At this age nearly all WM structuresshould be myelinated (hypointenseon T2W.
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Metachromatic Leukodystrophy• Decreased arylsulfatase A
– Central and peripheral demyelination• Imaging
– Confluent butterfly-shaped increased T2 signal deep cerebral WM
• Spares U fibers in early disease• Involves U fibers in late disease
– Sparing of perivenular myelin producing the tigroid appearance
– No enhancement of WM– May have enhancement of cranial nerves and cauda
equina
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MLD
FLAIR – bilateral, symmetric periventricular and deep WMchanges sparing U-fibers
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MLD
T2W – tigroid appearance of WMDue to preservation of myelin in perivascular regions
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Krabbe Disease• aka Globoid cell leukodystrophy• Clinical S/S: irritability• Juvenile form: protracted course with slow rate of
progression• CT: hyperdensity in thalamus, BG• MRI Imaging:
– Faint hyperintensities in thalamus and BG (T1W)– Ring like appearance around dentate nucleus (T2W)– PV WM hyperintensities (T2W)
• Initially spares U fibers– Enlarged optic nerves and cranial nerves (T1W)
• MRS: increased choline,myoinositol, decreased NAA, lactate accumulation
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Krabbe DiseaseCT Scan
Faint hyperdensity in the lateral thalami, from presumed Ca++ depositsCT more sensitive than MR in early course
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Krabbe Disease
FLAIR – focal symmetric hyperintensity capsular portion of corticospinal tracts.
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Krabbe Disease
FLAIR – juvenile onset – symmetric hyperintensity in parietal WMsparing subcortical U fibers
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Krabbe Disease
T2W – advanced disease – atrophy, hypointensity in BG and Thalami
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SSPE
• Nonspecific leukoencephalopathy• MRS:
– decreased NAA/Cr– Increased Cho/Cr; Ins/Cr and Lac-Lip
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SSPEProton Density:Inhomogeneous hyperintensity bilaterally, asymmetric involving WMAnd cortex
Biopsy - SSPE
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Gray Matter Metabolic Disorder
• Leigh Disease• 3-methylglutaconic aciduria• Biotin dependent encephalopathy• Methylmalonic acidemia
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Leigh Syndrome
• Progressive neurodegenration• Respiratory chain disorder• Clinical S/S: psychomotor delay/regression• Imaging:
– Bilateral symmetric increased T2/FLAIR signal• Putamen>caudate>GP, periaqueductal gray,
SN/STN, dorsal pons, cerebellar nuclei– Restrictive diffusion in areas of acute disease
• MRS: increased lactate; decrease NAA, increase choline
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Leigh Syndrome
DWI – reduced diffusion in thalamus T2W – subtle thalamic involvement•Thalamic involvement may be isolated when patient becomes symptomatic•DWI shows abnormality better than T2W
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Leigh Syndrome
T2W – hyperintensity in caudate head, putamen, periaqueductal GM
Common site of involvement due to ETC complexes I and II