Presentation
A known case of mucopolysaccharidosis type I, presented with extensive skeletal deformity.
Patient Data
The case demonstrates typical features of mucopolysaccharidosis type I (enlarged head size, marked ventriculomegaly, diffuse alteration of the white matter (involving the subcortical U-fibers) signal detected as high signal intensity on T2-weighted sequences, multiple dilated perivascular spaces within the bilateral basal ganglia giving a cribriform-like appearance more at the left side, and finally diffuse cerebral atrophy in the form of prominent extra-axial CSF spaces especially at the bilateral temporal region). Other features include mega cisterna magna and an empty sella.
Case Discussion
Mucopolysaccharidosis type I is an inherited metabolic disorder secondary to enzyme deficiency and an inability to break down glycosaminoglycans. The subsequent accumulation of a toxic intracellular substrate in the brain results in multiple findings, almost all of them are demonstrated in our case. These findings include high T2 signal in the white matter, dilatation of the perivascular spaces (mostly involving the basal ganglia), a dilated ventricular system, prominent extra-axial CSF spaces (mostly at the level of the temporal lobes), an empty sella, and mega cisterna magna.
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