PERIVENTRICULAR
METACHROMATIC LEUKODYSTROPHY
HYPERINTENSITY (T2/ FLAIR)
SYMMETRICAL PERIVENTRICULAR WHITE MATTER
ENLARGED OPTIC NERVE
TIGROID PATTERN (AXIAL)
LEOPARD PATTERN (SAGGITAL)
​
KRABBE DISEASE
HYPERINTENSITY (T2/ FLAIR)
PERIVENTRICULAR HYINTENSITY
DEEP GREY MATTER HYPERINTENSITY
MCP/ DENTATE
OPTIC CHIASMA ENLARGEMENT
LUMBOSACRAL PLEXUS ENLARGEMENT
TIGROID PATTERN (T2 IMAGES)
​
LBSL
LEUKOENCEPHALOPATHY WITH BRAINSTEM SPINAL CORD LACTATE ELEVATION
HYPERINTENSITY (T2/ FLAIR)
PERIVENTRICULAR HYINTENSITY
POSTERIOR LIMB INTERNAL CAPSULE
DORSAL/ LATERAL COLUMN OF SPINAL CORD OR MEDULLAR OBLONGATE
SPECTROSCOPY: INCREASED LACTATE
​
LATE ONSET NCL
HYPERINTENSITY (T2/ FLAIR)
SYMMETRICAL PERIVENTRICULAR WHITE MATTER
THIN CORPUS CALLOSUM
​
CSF1R (HDLS)
HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY BRAIN MICRO CALCIFICATIONS
HYPERINTENSITY (T2/ FLAIR)
CONFLUENT WMH
PERIVENTRICULAR PUNCTATE DWI RESTRICTION
SUBCORTICAL WHM
L2 H-GLUTARIC ACIDURIA
HYPERINTENSITY (T2/ FLAIR)
CAUDATE/ PUTAMEN
GLOBUS PALLIDUS/ DENTATE
CENTRIPETAL WHITE MATTER
U-FIBRE INVOLVED FIRST
CEREBELLAR WHITE MATTER
MACROCEPHALY
​
KEARN SAYRE SYNDROME
PROPIONICACIDAEMIA
CANAVAN
UREA CYCLE DEFECTS
WMH MULTIFOCAL
18P DELETION
​
KEARNS SAYRE SYNDROME
PARIETO-OCCIPITAL WHM
KRABBE DISEASE
HYPERINTENSITY (T2/ FLAIR)
PERIVENTRICULAR HYINTENSITY
DEEP GREY MATTER HYPERINTENSITY
MCP/ DENTATE
OPTIC CHIASMA ENLARGEMENT
LUMBOSACRAL PLEXUS ENLARGEMENT
TIGROID PATTERN (AXIAL)
LEOPARD PATTERN (SAGGITAL)
X-LINKED ADRENOLEUKODYSTROPHY
​
HYPOMYELINATION
PELIZAEUS MERZBACHER
HYPERINTENSITY (T2/ FLAIR)
HYPOMYELINATION
INTERNAL CAPSULE/ OPTIC RADIATION
PROXIMAL CORONAL RADIATA
CEREBELLAR ATROPHY
X-LINKED ADRENOLEUKODYSTROPHY
​
METACHROMATIC LEUKODYSTROPHY
HYPERINTENSITY (T2/ FLAIR)
SYMMETRICAL PERIVENTRICULAR WHITE MATTER
ENLARGED OPTIC NERVE
TIGROID PATTERN (AXIAL)
LEOPARD PATTERN (SAGGITAL)
POLR3B/A MUTATIONS
TUBB4 (H-ABC)
​
SCP2 MUTATIONS
​
SPG 58 (KIFIC)
​
SPAX3 (MARS2)
​
NKX6-2
​
L2 HYDROXY GLUTARIC ACIDURIA
HYPERINTENSITY (T2/ FLAIR)
CAUDATE/ PUTAMEN
GLOBUS PALLIDUS/ DENTATE
CENTRIPETAL WHITE MATTER
U-FIBRE INVOLVED FIRST
CEREBELLAR WHITE MATTER
MACROCEPHALY
​
COCKAYNE SYNDROME
ATROPHY
CEREBELLAR HEMISPHERE
CEREBELLUM
HYPERINTENSITY (T2/ FLAIR)
HYPOMYELINATION
CALCIFICATION
BASAL GANGLIA CALICIFICATION
DURAL AV FISTULA
DEMENTIA/ PARKINSONISM
DIFFUSE WHITE MATTER HYPERINTENSITY
​
FRONTAL DOMINANT
ALEXANDER DISEASE
JUVENILE ONSET:
FRONTAL WMH
ADULT ONSET:
ATROPHY OF MEDULLA AND SPINAL CORD
DIFFUSE
METACHROMATIC LEUKODYSTROPHY
HYPERINTENSITY (T2/ FLAIR)
SYMMETRICAL PERIVENTRICULAR WHITE MATTER
ENLARGED OPTIC NERVE
TIGROID PATTERN (AXIAL)
LEOPARD PATTERN (SAGGITAL)
​
VANISHING WHITE MATTER DISEASE
CORPUS CALLOSAL INVOLVEMENT
HDLS (CSF1R)
HYPERINTENSITY (FLAIR/ T2)
ASYMMETRICAL PERIVENTRICULAR
FRONTAL DOMINANT
CORPUS CALLOSUM HYPERINTENSITY
BRAIN MICRO CALCIFICATIONS
DIFFUSION WEIGHTED IMAGES
PERIVENTRICULAR PUNCTATE DWI RESTRICTION
AARS2
HYPERINTENSITY (FLAIR/ T2)
ASYMMETRICAL PERIVENTRICULAR
CORTICOSPINAL TRACTS
​
SPG35 (FA2H)
HYPERINTENSITY (FLAIR/ T2)
MILD PERIVENTRICAL HYPERINTENSITY
ATROPHY
PONTO-CEREBELLAR ATROPHY
THIN CORPUS CALLOSUM
​
SPG47/SPG50/SPG51/SPG 52
HYPERINTENSITY (FLAIR)
THIN SPLENIUM CC
EAR OF GRIZZLY (FORCEPS MINOR)
PERIVENTRICULAR WHM
​
THIN CORPUS CALLOSUM
SPG11
SPG15
SPG21
SPG32
SPG47
CONTRAST ENHANCEMENT
X-LINKED ADRENOLEUKODYSTROPHY
HYPERINTENSITY (T2/ FLAIR)
PARIETO-OCCIPITAL HYINTENSITY
OPTIC RADIATIONS
CORPUS CALLOSUM SPLENIUM
HYPERINTENSITY (T1 GD)
WHITE MATTER CONTRAST ENHANCEMENT AT THE PERIPHERY OF THE LESION
​
ALEXANDER DISEASE
JUVENILE ONSET:
FRONTAL WMH
ADULT ONSET:
ATROPHY OF MEDULLA AND SPINAL CORD
​
KRABBE DISEASE
HYPERINTENSITY (T2/ FLAIR)
PERIVENTRICULAR HYINTENSITY
DEEP GREY MATTER HYPERINTENSITY
MCP/ DENTATE
OPTIC CHIASMA ENLARGEMENT
LUMBOSACRAL PLEXUS ENLARGEMENT
TIGROID PATTERN (AXIAL)
LEOPARD PATTERN (SAGGITAL)
SPINAL CORD INVOLVEMENT
ADRENOMYELONEUROPATHY
HYPERINTENSITY (T2/ FLAIR)
MOST PROMINANT IN THORACIC CORD
​
LBSL
LEUKOENCEPHALOPATHY WITH BRAINSTEM SPINAL CORD LACTATE ELEVATION
HYPERINTENSITY (T2/ FLAIR)
PERIVENTRICULAR HYINTENSITY
POSTERIOR LIMB INTERNAL CAPSULE
DORSAL/ LATERAL COLUMN OF SPINAL CORD OR MEDULLAR OBLONGATE
SPECTROSCOPY: INCREASED LACTATE
ADULT POLYGLUCOSAN BODY DISEASE
AXONAL POLYNEUROPATHY
SPASTICTY
​
ALEXANDER DISEASE
JUVENILE ONSET:
FRONTAL WMH
ADULT ONSET:
ATROPHY OF MEDULLA AND SPINAL CORD
​
DARS1
HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT
HYPERINTENSITY (T2/ FLAIR)
HYPERINTENSITY IN CEREBRUM
CEREBELLUM/ BRAIN STEM. SPINAL CORD
​