Computed Tomography and Magnetic Resonance Imaging of the Brain in Hurler's Disease

Abstract

Computed tomographic (CT) and magnetic resonance imaging (MRI) scans of the brain in five patients with Hurler's disease are described and compared to the few available reports in the literature. Computed tomographic scans revealed low attenuation areas in the centrum semiovale and peritrigonal white matter. Ventriculomegaly was not a prominent feature in our patients, compared to those previously reported. In two patients, CT were normal. The most prominent magnetic resonance imaging abnormalities were the presence of radially oriented cystic areas in the centrum semiovale, peritrigonal white matter, corpus callosum, and pericallosal region. Magnetic resonance imaging abnormalities were present in all patients, even when CT scans were normal. Abnormalities on CT and MRI scans tended to be more prevalent in the posterior regions. Magnetic resonance imaging proved to be a more reliable imaging method in Hurler's disease. T1-weighted images delineated the cystic areas more clearly, whereas T2-weighted images were more sensitive in detecting small white-matter abnormalities. Magnetic resonance imaging abnormalities correlated well with known neuropathologic alteration in this disease. It is suggested that the cystic areas seen on MRI correspond to perivascular lacunae seen in histopathologic material.

Magnetic resonance imaging findings in Hunter syndrome

“…2). Although previous studies have correlated atrophy with mental deterioration (1,13), this study had the same findings as others described in this paper. Despite somewhat severe brain atrophy and ventriculomegaly in 14 patients, none had mental retardation.…”

Precocious initiation of spermatogenesis in a 19-month-old boy with Hurler syndrome

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“…Hydrocephalus internus associated with metabolic disorders has been mainly observed in lysosomal storage disorders like mucopolysaccharidoses [1,4] or multiple sulfatase deficiency [3,5] and is attributed to reduced CSF circulation due to swelling of intracerebral structures and the spinal cord. Glutaric aciduria type I is also associated with macrocephaly, but predominantly due to external hydrocephalus and frontal hygromas [12].…”