MRI findings in childhood with neuronal ceroid lipofuscinosis / 中华放射学杂志

ABSTRACT

Objective To characterize the MR imaging findings in different types of neuronal ceroid lipofuscinosis (NCL) in childhood. Methods Six children with NCL and 6 age-matched control subjects were examined by using MRI. There was 2 patients with infantile NCL, 2 with late-infantile NCL, and 2 with juvenile NCL. Results The cerebral atrophy was found in patients with infantile NCL, but the cerebellar atrophy was found in patients with late-infantile NCL and juvenile NCL; Hyperintensity in the centrum semiovale or periventricular white matter on T 2WI was revealed in all cases; Decreased T 2 signal was seen in the thalami in five patients, except for 1 juvenile NCL; Decreased T 2 signal in the basal ganglia was seen in the 2 case with late-infantile NCL. No abnormal change was found in the control subjects. Conclusion MRI is of great value in demonstrating the early changes of NCL. MRI especially facilitates the classification and early diagnosis of NCL.