This is a 5-years old boy, normal at birth with regression of social and language milestons in the last few months with loss of vision, due to retinitis pigmentosa.
An MRI was performed, which shows moderate cerebral and cerebellar atrophy with a reduction in the volume of the cerebral white matter (Figs. 1, 2). The T2W images demonstrate confluent hyperintense signal in the periventricular zones along the margins of the lateral ventricles and optic radiations extending into the lateral geniculate bodies (Figs. 3-5). Ill-defined T2 hyperintense signals are noted in the deep white matter. Short TE spectra (Fig. 6) suggestive of increase in myoinositol and glutamine-glutamate at 3.56 and 3.6-3.8 ppm are seen. Choline/creatine ratios are relatively well preserved. The NAA/creatine ratios are slightly decreased. Long TE spectra (FIg. 7) do not show significant lactate peak.
In the given clinical setting, these findings are suggestive of neuronal ceroid lipofuscinosis.