MRI Abnormalities in Neurometabolic Disorders Dr. Ali Reza Tavasoli Children’s Medical Center The 12 nd Pediatric Endocrinology Congress, Nov 2019
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MRI Abnormalities in Neurometabolic Disorders
Dr. Ali Reza TavasoliChildren’s Medical Center
The 12nd Pediatric Endocrinology Congress, Nov 2019
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
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
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.
T-2 T-1Normal MRI
Age is Important for:MRI Interpretation
Normal Myelination
Demyelinating Pattern Hypomyelinating Pattern
Involvement Pattern
WM Involvement (Deep, periventricular, Subcortical)
MLD-Deep and Periventricular WM L2HGA-Subcortical WM
Where is:the most involved Area?
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?
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
Lysosomal Storage Disorders
GM2-Gangliosidosis-Turkish Mustache MPS- Increased Perivascular Space
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
Posterior predominant in X-ALDContrast enhancement in X-ALD
DWI
ADC
Peroxisomal Dis
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.
Peroxisomal Disorders
Deep White Matter Cerebellar Involvement Brain Stem- Pons Middle Cerebellar Peduncle
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
Mitochondrial Disorders
Compelx I- Cystic Rarefaction Cerebellar Involvement Basal Ganglia
Brain Stem
Middle Cerebellar Peduncle
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
CC AgenesisParallel V- Lissencephaly Cerebellar Hypoplasia
DDx: NKH, Peroxisomal, PCH, NCL, CDG
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
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
Main Basal Ganglia Signals DDx: Leigh Syndrome, OAs
Leigh Syndrome
Organic Acidemia
Propionic Acidemia-Putamen Propionic Acidemia-Putamen MMA- GP Involvement
Deep WM- BG Ganglia- MacrocephalyBat-Wing Sign- GA- 1
BTBGD- Before Treatment BTBGD- After Treatment Canavan Disease- Macrocephaly- Hypotonia- Vision Loss
L2- Hydroxy Glutaric Aciduria
L2- Hydroxy Glutaric Aciduria
- Macrocephaly- School Dysfunction- ID- ASD
Differential Diagnosis
EBV EncephalitisNear Drowning
PKAN-Eye of Tiger- Gait Problem- ID- Ataxia
Wilson DiseaseHypermagnesemia
DystoniaHepatic FailurePolycythemia
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
Stroke Events
Homocystinuria
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
Sulfite Oxidase Deficiency Molebdenum Cofactor Deficiency
CP Mimickers: Refractory Seizures, Microcephaly, GDD
• Defect in complex I mitochondrial respiratory chain• Homozygous mutation in NDUFV1 gene
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
Afif Abad Garden- Shiraz- Spring 1398
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