Late infantile type neuronal ceroid-lipofuscinoses

Abstract

Objectives: The clinicopathological studies of a Chinese boy with late infantile type neuronal ceroid-lipofuscinoses (NCL) are presented. Methods: Clinical, radiological and pathological examinations were performed in this case. Results: The onset of the disease was at the age of 2 years. The clinical findings were characterized by gait disturbance and mental regression. Epilepsy and visual impairment were noted later. He died at the age of 7 years and 4 months. The brain MRI detected minimal cerebral and cerebellar atrophy at the age of 4 years. Marked brain atrophy with hypointensity in the thalami and cerebral cortex, and periventricular high- signal rims on T2-weighted images were observed at his age of 7 years. Pathologically, marked loss of neurons resulting in spongiform changes were observed in the cerebral cortex, especially in the occipital lobes. The neurons in thalami and putamen were also severely involved. In cerebellum, almost complete loss of Purkinje cells and granular cells could be found. Numerous axonal spheroids in the cerebellar molecular layer were presented. The neurons in hippocampus, brain stem and cervical area of the spinal cord were better preserved. The resting neurons in the cerebellum and cerebrum were ballooned, in which autofluorescent lipopigments were documented. Similar autofluorescent lipopigments could be found in most cells in various visceral organs. Ultrastructurally, the storaged lipofuscin material was consisted of abundant curvilinear profiles, rarely intermixed with fingerprint profiles. Conclusions: To our knowledge, this may be the first autopsied case of NCL in China. Furthermore, Numerous axonal spheroids in the cerebellar molecular layer is pathological feature in our case which might be an example of new variant of Jansky-Bielschowsky disease.