Fucosidosis: MRI and MRS findings

Abstract

Fucosidosis is a rare, autosomal recessive lysosomal storage disease in which fucose-containing glycolipids, glycoproteins, and oligosaccharides accumulate in tissues as a consequence of alpha-L: -fucosidase enzyme deficiency. We present the MR imaging findings of diffuse white-matter hyperintensity and pallidal curvilinear streak hyperintensity in a 6-year-old Caucasian girl with a diagnosis of fucosidosis based on cDNA isolated from skin fibroblasts. This report also includes the MRS findings of a decreased N-acetylaspartate/choline ratio together with an abnormal peak at 3.8 ppm which expand the knowledge of the neuroradiological spectrum of this rare disease.

Canine Fucosidosis: A Neuroprogressive Disorder

“…This approach yielded consistent findings within and between dogs of a similar age, but would be enhanced by a quantitative electron microscopic study of myelin sheath thickness and by immunostaining with oligodendrocyte markers such as galactocerebroside and myelin basic protein. The substantial myelin loss in the corpus callosum striatum and thalamus in affected dogs at 2-4 months was similar to a 6-year-old fucosidosisaffected girl who had white matter changes in periventricular and subcortical areas on MRI studies [8] .…”

“…murine IIIB [6] . Demyelination is a prominent feature in human and animal models of LSD including fucosidosis [7,8] . Lysosomal vacuolation and reduced myelination precede the onset of clinical signs in cats and guinea pigs with ␣ -mannosidosis [9,10] but have not been described in fucosidosis.…”

Siblings with fucosidosis

“…[6] Characteristic magnetic resonance spectroscopy findings reported are reduced N-acetyl aspartate/choline with elevated choline/creatine ratios and myoinositol, and a specific spectral peak at 3.8-3.9 ppm. [7] Various forms of dysostosis multiplex has been described, which was noted in our case also. [8]…”

Acquired hepatocerebral degeneration

“…In addition, neuroferritinopathy sometimes results in either eye of the tiger sign or confluent cavitary lesions involving the putamen or globus pallius. [75,87] Basal ganglia calcification Common causes include parathyroid disease and Fahr syndrome T1 sequences more often show low or iso-, signal intensity lesions in the basal ganglia, but hyperintensities have been reported; lesions do not enhance T2 sequences usually show corresponding iso-or hypointense lesions CT universally shows high-attenuation lesions and is the preferred imaging modality [3,128] Hypoxic-ischemic injury Prominent T1-hyperintensities of the basal ganglia may be seen following hypoxic-ischemic injury, sometimes with gadolinium enhancement, but T2 lesions and restricted diffusion commonly co-occur Associated imaging abnormalities are commonly found outside the basal ganglia, e.g., cortical laminar necrosis In neonates with hypoxic ischemic injury, metabolic disorders such as perinatal hypoglycemia, bilirubin encephalopathy, nonketotic hyperglycinemia, and urea-cycle disorders also may cause basal ganglia hyperintensities on T1-weighted imaging CT may show low-attenuation basal ganglia lesions [16,44,149,162] Carbon monoxide poisoning Basal ganglia T1-hyperintensities are possible, but T1 sequences more often show low signal intensity lesions in the medial globus pallidus, which may enhance T2 sequences usually show corresponding hyperintense lesions and apparent diffusion coefficient maps show restricted diffusion CT may show low-attenuation basal ganglia lesions [81] Langerhans cell histiocytosis T1 pallidal hyperintensities are common and gadolinium enhancing lesions may be present T2 sequences may show low, iso-, or high signal intensity lesions co-morbid extra-axial (osseous and dura-based) lesions always accompany parenchymal changes and other brain sites such as the pineal, pituitary, white matter, dentate and brainstem are commonly involved CT may show lytic lesions in the skull or skull base [22,119,160] Neurofibromatosis type I Basal ganglia T1-iso-or hyperintensities are possible, but T2 hyperintensities are more common; some lesions may enhance Lesions may be bilateral but are less homogenous than AHD Other MRI lesions may co-occur including astrocytomas, optic gliomas, sphenoid dysplasia, and plexiform neurofibromas CT typically shows normal basal ganglia [92] Fucosidosis T1 sequences may show pallidal hyperintensities similar to AHD but T2 sequences usually show corresponding basal ganglia hypointensities T2 sequences may show prominent white matter abnormalities and thalamic lesions CT may show low-attenuation lesions within the globus pallidus [34, 104,120] Microhemorrhage of the basal ganglia Bilateral basal ganglia microhemorrhage may result from hypoxia, infections such as Japanese encephalitis, or microangiopathies such as hemolytic-uremic syndrome or AIDS-related microangiopathy T1 and T2 sequences show low, iso-, or high signal intensity lesions depending on the oxidation state o...…”