MR brain imaging of fucosidosis type I

Abstract

Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.

fig 1.

Patient 2, 2 1/2-year-old girl. A, Turbo spin-echo (TSE) T2-weighted (TR/TE/excitations [2800/110/2]) axial MR image shows extensive high signal intensity of supratentorial white matter, as well as of the medial medullary laminae (arrowheads) between the medial and lateral pallidal segments, which appear hypointense. B–D, Serial TSE T2-weighted (2800/110/2) coronal MR images confirm extensive signal intensity alteration of supratentorial white matter, and show altered signal in the corpus medullare. The internal medullary laminae of the thalami are hyperintense (white open arrows). A high signal intensity alteration is seen in both the putamina (asterisks) and hypothalamus (black open arrows). The abnormal signal intensity of the medial medullary laminae (arrowheads) splitting the medial from the lateral pallidal segment is better appreciated. E, Spin-echo T1-weighted (550/15/2) sagittal MR image shows a hypointense streak (arrow) separating the two pallidal segments which appear hyperintense. F, TSE T2-weighted (2736/150/4) sagittal MR image of the thoracolumbar spine shows anterior and posterior vertebral beaking.