Leukodystrophies

Metachromatic leukodystrophy. (a) T2-weighted MR image demonstrates bilateral confluent areas of high signal intensity in the periventricular white matter. Note the classic sparing of the subcortical U fibers (arrowheads). (b) Contrast materialenhanced MR image shows lack of enhancement in the demyelinated white matter, a finding that is characteristic of metachromatic leukodystrophy.

Metachromatic leukodystrophy

Metachromatic leukodystrophy. (a) T2-weighted MR image shows numerous linear tubular structures with low signal intensity in a radiating (tigroid) pattern within the demyelinated deep white matter. (b) T2-weighted MR image shows a punctate (leopard skin) pattern in the demyelinated centrum semiovale, a finding that suggests sparing of the white matter. (c) On a contrast-enhanced T1-weighted MR image, the tigroid pattern seen in aappears as numerous punctate foci of enhancement (arrows) within the demyelinated white matter, which is unenhanced and has low signal intensity (leopard skin pattern).

Krabbes disease
Krabbe disease in a 2-year-old boy. T2-weighted MR image demonstrates symmetric highsignal-intensity areas in the deep white matter. The internal and external capsules are also involved (arrowheads). Note the bilateral areas of abnormal signal intensity in the thalami (arrows).

Mucopolysaccharidosis Mucopolysaccharidosis in a 4-year-old boy with Hurler disease. (a) T1-weighted MR

image shows multiple well-defined areas of low signal intensity in the central and subcortical white matter. (b) T2-weighted MR image demonstrates multiple well-defined areas of high signal intensity in the deep and subcortical white matter.

X-linked Adrenoleukody strophy

T2-weighted MR image shows symmetric confluent demyelination in the peritrigonal white matter and the corpus callosum.

On a T1-weighted MR image, the peritrigonal lesions appear hypointense.

Gadolinium-enhanced T1-weighted MR image reveals a characteristic enhancement pattern in the intermediate zone (arrows) representing active demyelination and inflammation.

Atypical ALD
(a) T2-weighted MR image shows involvement predominantly of the frontal lobe white matter, genu of the corpus callosum, and anterior limbs of the internal capsule (arrows). (b)Gadolinium-enhanced T1-weighted MR image shows linear enhancement within the involved white matter and the anterior limbs of the internal capsule (arrows).

Zellweger syndrome
Zellweger syndrome in a 5-month-old girl. (a) T2-weighted MR image shows extensive areas of diffuse high signal intensity in the white matter. The gyri are broad, the sulci are shallow, and there is incomplete branching of the subcortical white matter, findings that suggest a migration anomaly with pachygyria. (b) On a T1-weighted MR image, the white matter abnormalities demonstrate low signal intensity.

MELAS
MELAS syndrome in a 10-year-old boy with migrating infarction.(a) Initial T2weighted MR image shows a high-signal-intensity lesion in the left occipital lobe (arrows). Prominent cortical sulci are seen in the right occipital lobe, a finding that suggests cortical atrophy. (b) On a contrast-enhanced T2-weighted MR image, the lesion demonstrates no enhancement. (c) Follow-up MR image obtained 15 months later shows another lesion in the left temporal area (arrowheads).

Leigh disease
Leigh disease in a 2-year-old boy. (a) T2-weighted MR image shows bilateral highsignal-intensity areas in the putamen and globus pallidus (arrows). (b)On a T1weighted MR image, the lesions demonstrate low signal intensity (arrows).

Canavan disease
Canavan disease in a 6-month-old boy with macrocephaly. (a) T2-weighted MR image shows extensive high-signal-intensity areas throughout the white matter, resulting in gyral expansion and cortical thinning. Striking demyelination of the subcortical U fibers is also noted. (b) T1weighted MR image shows demyelinated white matter with low signal intensity.

PelizaeusMerzbacher disease
PMD in a 7-month-old boy. T2weighted MR image reveals almost no myelination of the cerebral white matter. The subcortical white matter is also involved, as are the internal and external capsules (arrowheads).

Alexander disease
Alexander disease in a 5-year-old boy with macrocephaly. (a) T2weighted MR image shows symmetric demyelination in the frontal lobe white matter. The internal and external capsules and parietal white matter are also involved.

 The MRI criterion for a diagnosis of hypomyelination is an unchanged pattern of deficient myelination on two successive MRI scans at least 6 months apart. One of the MRI scans should have been obtained at the age of more than 1 year. Fully myelinated white matter has high T1 signal and low T2 signal. The T1 shortening occurs before T2 shortening and is more prominent. Consequently, deposition of some myelin may result in low, intermediate or high T1 signal of the white matter, depending on the amount of myelin deposited, whereas the white matter signal is still high on T2-weighted images. At first glance, all hypomyelinating disorders have a similar appearance on MRI with mild T2 hyperintensity of much or almost all cerebral hemispheric white matter and a variable T1 signal intensity.

4H Syndrome

The sagittal T1-weighted image shows cerebellar atrophy (A). The axial T2-weighted image (B) shows relatively lower signal of the anterolateral part of the thalamus (white arrow), pyramidal tract at the level of the posterior limb of the internal capsule (black arrow) and the optic radiation (white open arrow).

The diagnosis of 4H syndrome is based on hypomyelination on MRI, hypogonadotropic hypogonadism and hypodontia. T2 hypointensity of optic radiation, pyramidal tracts at the level of the posterior limb of the internal capsule and anterolateral part of the thalamus . The cerebellar white matter often has a mild T2 hyperintensity and the dentate nucleus stands out as relatively dark. Another dominant feature is cerebellar atrophy, usually already seen before the age of 10, a feature uncommon in other hypomyelinating disorders.

Hypomyelination with atrophy of brainstem and cerebellum

A, Axial T2W image, patient aged 18 months. The cerebral white matter contains little myelin. The putamen is mildly reduced in size (arrowhead). The thalamus, caudate nucleus, and globus pallidus (arrow) have a normal size. B, Sagittal T1W image, patient aged 18 months. The cerebellar vermis is slightly atrophic. C, Axial T2W image, patient aged 6 years. At 6 years, the hypomyelination of the cerebral white matter is unchanged. The putamen is no longer visible. The head of the caudate nucleus is mildly reduced in size. The thalamus and globus pallidus (arrow) are normal. D, Sagittal T1W image, patient aged 6 years. The cerebellar atrophy has increased.

Fucosidosis
Characteristic MRI features include a dark globus pallidus and often also substantia nigra on T2-weighted images.

Axial T2-weighted images of a 1-year-old female with fucosidosis demonstrate pronounced T2 hypointensity of the globus pallidus (white open arrow, A) and substantia nigra (white arrow, B). The optic radiation has a lower signal than the adjacent white matter (black arrow, A).

Infantile GM1/2 Gangliosidosis

Axial T2weighted images of a 1year-old female with GM2 gangliosidosis display hypointensity of the corpus callosum (white arrow, A) and T2 hyperintensity of the basal ganglia (black arrow, B).

Characteristic MRI features are mild T2 hyperintensity of the caudate nucleus and putamen with signs of diffuse hypomyelination, contrasting with a normal T2 signal intensity of the corpus callosum, indicating more complete myelination of this structure. The anterolateral part of the thalamus was slightly abnormal in signal in a few patients.

Hypomyelination with congenital cataract

MRI of a 3-year-old male with HCC. The axial T2weighted image shows prominent T2 hyperintensity (black arrow, A) and the sagittal T1-weighted image displays T1 hypointensity (white arrow, B) of the periventricular and deep white matter.

Hypomyelination is combined with areas of prominent T2 hyperintensity and T1 hypointensity in the periventricular and deep cerebral white matter, indicating focal lesions. Other hypomyelinating disorders, such as 4H syndrome and GM1 and GM2 gangliosidosis may also display some additional T1 hypointensity of the deep cerebral white matter, but it is the contrast with the more normal appearance of the subcortical white matter on T1-weighted images that makes HCC distinct from other disorders.

PMD
The axial T2-weighted image in a 1-year-old male with PMD shows a strikingly homogeneous T2 signal intensity of the cerebral white matter (A) as compared to a 5-yearold male with 4H syndrome (B).

The majority of patients with PMD have a strikingly homogeneous T2 signal of the cerebral white matter, often in combination with hypointensity on T1-weighted images. It is striking that the tigroid pattern of myelin deposition described in the histopathology of PMD is not observed on MRI scans.

PMLD
Axial T2-weighted images of two male patients with PMLD (age 39 years in A, age 6 years in B) at the level of the pons show T2 hyperintensity, either in the pyramidal tracts alone (white arrow, A) or in the entire pons (black arrow, B). An MRI feature of PMLD patients consists of prominent T2 signal hyperintensity of the pons. The pontine abnormalities either consist of a global T2 hyperintensity often associated with T1 hypointensity of the pons or of T2 hyperintensity and T1 hypointensity confined to the pyramidal tracts at this level.

Salla disease
The axial T2-weighted image of a 16-year-old male with Salla disease demonstrates hyperintensity of the subcortical white matter, characteristic of patients in Clusters 7 and 8 (A), as compared to more diffuse hyperintensity of the cerebral white matter in a 19-year-old female with hypomyelination (B). Classical Salla disease has no distinct MRI features .The pattern of T2 hyperintensity of the subcortical white matter contrasting with T2 hypointensity of the remaining cerebral white matter, seen in several PMLD patients, was also seen in two patients with Salla disease, however, without the typical pons abnormalities of PMLD. MRS N

MRI study of brain shows: Diffuses cerebral white matter involvement. Early involvement of sub cortical white matter. Sub cortical white matter cysts iso intense to Csf representing white matter paucity in temporal regions. Basal ganglia and internal capsules spared. Cerebral cortical atrophy. Minimal involvement of Cerebellar white matter. On MRS reduced NAA and slightly raised Choline peak.

Vander Knaap Leukoencephalopathy

Imaging findings of bilateral diffuse white matter disease, involvement sub cortical white matter with cysts, sparing basal ganglia and internal capsules with Macrocephaly clinically goes in favour of Van der Knaap disease. Abbreviations and Syn: 1. MLC: Megaloencephalic leukoencephalopathy with subcortical cysts, formerly known as Vacuolating megaloencephalic leukoencephalopathy with benign, slowly progressive course. 2. VWM: Leukoencephalopathy with Vanishing white matter (WM), Alternatively called CACH (Childhood ataxia central hypomyelination) 3. WML: White matter disease with lactate. 4. H-ABC: Hypomyelination with atrophy of the basal ganglia (BG) and cerebellum.