mri abnormalities in neurometabolic...
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![Page 1: MRI Abnormalities in Neurometabolic Disordersgdrc-cong.tums.ac.ir/images/slide/slide3/3-tavasoli.pdf · MRI Abnormalities in Neurometabolic Disorders. Dr. Ali Reza Tavasoli. Children’s](https://reader036.vdocuments.us/reader036/viewer/2022070819/5f199e2f4373dc42b847a04f/html5/thumbnails/1.jpg)
MRI Abnormalities in Neurometabolic Disorders
Dr. Ali Reza TavasoliChildren’s Medical Center
The 12nd Pediatric Endocrinology Congress, Nov 2019
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Important Involved Anatomic AreasWhite Matter (Periventricular, Deep, Subcortical) Cortical Gray Matter- Malformation Deep Gray Matter (Basal Ganglia-BG) Brain Stem Cerebellum Stroke-Like Lesions Cystic Changes
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Important Involved Anatomic AreasWhite Matter (Periventricular, Deep, Subcortical) Cortical Gray Matter- Malformation Deep Gray Matter (Basal Ganglia-BG) Brain Stem Cerebellum Stroke-Like Lesions Cystic Changes
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Introduction
White matter (WM) signal abnormalities are demonstrated in various neurometabolic disorders on MRI.
The pattern of WM abnormalities can aid in the diagnostic process.
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T-2 T-1Normal MRI
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Age is Important for:MRI Interpretation
Normal Myelination
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Demyelinating Pattern Hypomyelinating Pattern
Involvement Pattern
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WM Involvement (Deep, periventricular, Subcortical)
MLD-Deep and Periventricular WM L2HGA-Subcortical WM
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Where is:the most involved Area?
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Important Hints in WM Involvement• Normal MRI sequences: T2 versus T1• Age at the time of MRI interpretation: Cut-off date: 2Y• Deep WM, Periventricular WM, Subcortical WM• Two types of myelin involvement • Where is the most involved area?
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Leukodystrophies Categories from the angle of Endocrinologist
Disorder Class Disease MRI Pattern Additional Hints
LysosomalNPA,B, NPC, Other Lipid Storage Disorders (GM1, GM2), MPS Hypomyelination PE, Eye Exam,
Enzyme study, BMA
PeroxisomalALD, Zelweger and ZSD
Demyelination PE, Eye ExamVLCFA
Mitochondrial/ Respiratory Chain
Complex I-IV, PC, MNGIEDemyelination PE, Serum/CSF Lactate,
EMG/NCV, ABR
Amino Acid& Organic Acids
MSUD, PKU, NKH, HCU, OAs,GA 1, MCD, HMG-CoA, Canavan, BTBGD
Hypo/Dem HPLC, UOA
Others Practical for Neurologist Hypo/Dem MSC
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Lysosomal Storage Disorders
GM2-Gangliosidosis-Turkish Mustache MPS- Increased Perivascular Space
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Leukodystrophies Categories from the angle of Endocrinologist
Disorder Class Disease MRI Pattern Additional Hints
LysosomalNPA,B, NPC, Other Lipid Storage Disorders (GM1, GM2), MPS Hypomyelination PE, Eye Exam,
Enzyme study, BMA
PeroxisomalALD, Zelweger and ZSD
Demyelination PE, Eye ExamVLCFA
Mitochondrial/ Respiratory Chain
Complex I-IV, PC, MNGIEDemyelination PE, Serum/CSF Lactate,
EMG/NCV, ABR
Amino Acid& Organic Acids
MSUD, PKU, NKH, HCU, OAs,GA 1, MCD, HMG-CoA, Canavan, BTBGD
Hypo/Dem HPLC, UOA
Others Practical for Neurologist Hypo/Dem MSC
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Posterior predominant in X-ALDContrast enhancement in X-ALD
DWI
ADC
Peroxisomal Dis
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X-linked Adrenoleukodystrophy (X-ALD)
3 distinct zones: 1. Fully demyelinated central white matter: T1 hypointense.
2. Intermediate inflammatory zone: contrast enhancement.
3. Peripheral demyelinating zone: restricted diffusion.
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Peroxisomal Disorders
Deep White Matter Cerebellar Involvement Brain Stem- Pons Middle Cerebellar Peduncle
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Leukodystrophies Categories from the angle of Endocrinologist
Disorder Class Disease MRI Pattern Additional Hints
LysosomalNPA,B, NPC, Other Lipid Storage Disorders (GM1, GM2), MPS Hypomyelination PE, Eye Exam,
Enzyme study, BMA
PeroxisomalALD, Zelweger and ZSD
Demyelination PE, Eye ExamVLCFA
Mitochondrial/ Respiratory Chain
Complex I-IV, PC, MNGIEDemyelination PE, Serum/CSF Lactate,
EMG/NCV, ABR
Amino Acid& Organic Acids
MSUD, PKU, NKH, HCU, OAs,GA 1, MCD, HMG-CoA, Canavan, BTBGD
Hypo/Dem HPLC, UOA
Others Practical for Neurologist Hypo/Dem MSC
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Mitochondrial Disorders
Compelx I- Cystic Rarefaction Cerebellar Involvement Basal Ganglia
Brain Stem
Middle Cerebellar Peduncle
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Important Involved Anatomic AreasWhite Matter (Periventricular, Deep, Subcortical) Cortical Gray Matter- Malformation Deep Gray Matter (Basal Ganglia-BG) Brain Stem Cerebellum Stroke-Like Lesions Cystic Changes
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CC AgenesisParallel V- Lissencephaly Cerebellar Hypoplasia
DDx: NKH, Peroxisomal, PCH, NCL, CDG
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Leukodystrophies Categories from the angle of Endocrinologist
Disorder Class Disease MRI Pattern Additional Hints
LysosomalNPA,B, NPC, Other Lipid Storage Disorders (GM1, GM2), MPS Hypomyelination PE, Eye Exam,
Enzyme study, BMA
PeroxisomalALD, Zelweger and ZSD
Demyelination PE, Eye ExamVLCFA
Mitochondrial/ Respiratory Chain
Complex I-IV, PC, MNGIEDemyelination PE, Serum/CSF Lactate,
EMG/NCV, ABR
Amino Acid& Organic Acids
MSUD, PKU, NKH, HCU, OAs,GA 1, MCD, HMG-CoA, Canavan, BTBGD
Hypo/Dem HPLC, UOA
Others Practical for Neurologist Hypo/Dem MSC
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Important Involved Anatomic AreasWhite Matter (Periventricular, Deep, Subcortical) Cortical Gray Matter- Malformation Deep Gray Matter (Basal Ganglia-BG) Brain Stem Cerebellum Stroke-Like Lesions Cystic Changes
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Main Basal Ganglia Signals DDx: Leigh Syndrome, OAs
Leigh Syndrome
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Organic Acidemia
Propionic Acidemia-Putamen Propionic Acidemia-Putamen MMA- GP Involvement
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Deep WM- BG Ganglia- MacrocephalyBat-Wing Sign- GA- 1
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BTBGD- Before Treatment BTBGD- After Treatment Canavan Disease- Macrocephaly- Hypotonia- Vision Loss
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L2- Hydroxy Glutaric Aciduria
L2- Hydroxy Glutaric Aciduria
- Macrocephaly- School Dysfunction- ID- ASD
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Differential Diagnosis
EBV EncephalitisNear Drowning
PKAN-Eye of Tiger- Gait Problem- ID- Ataxia
Wilson DiseaseHypermagnesemia
DystoniaHepatic FailurePolycythemia
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Important Involved Anatomic AreasWhite Matter (Periventricular, Deep, Subcortical) Cortical Gray Matter- Malformation Deep Gray Matter (Basal Ganglia-BG) Brain Stem Cerebellum Stroke-Like Lesions Cystic Changes
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Stroke Events
Homocystinuria
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Important Involved Anatomic AreasWhite Matter (Periventricular, Deep, Subcortical) Cortical Gray Matter- Malformation Deep Gray Matter (Basal Ganglia-BG) Brain Stem Cerebellum Stroke-Like Lesions Cystic Changes
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Sulfite Oxidase Deficiency Molebdenum Cofactor Deficiency
CP Mimickers: Refractory Seizures, Microcephaly, GDD
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• Defect in complex I mitochondrial respiratory chain• Homozygous mutation in NDUFV1 gene
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Take Home Message• Review Important Anatomic Arears• List the differential DDx• Compare overlapping diagnosis• Use Metabolic Studies as Needed: UOA, HPLC, VLCFA,…• Choose The Best Molecular Test to Confirm the Diagnosis
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Afif Abad Garden- Shiraz- Spring 1398