Clinical, genetic and cerebral ultrastructural features of late infantile neuronal ceroid lipofuscinosis:a ease report
10.3760/cma.j.issn.1671-8925.2009.01.012
- VernacularTitle:一例晚期婴儿型神经元蜡样质脂褐素沉积病的临床、遗传和脑超微结构特点
- Author:
Zhi-Yong ZENG
1
;
Yong-Hong YI
;
Wei-Ping LIAO
;
Xue-Fen LU
;
Zhuo-Fang HAO
;
Yu-Liang WANG
Author Information
1. 广州医学院附属第二医院
- Keywords:
Neuronal ceroid lipofuscinosis lysosomes;
Biopsy;
Ultrastructure
- From:
Chinese Journal of Neuromedicine
2009;8(1):39-42
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical, histopathological and inheritance features of late infantile neuronal ceroid lipofuscinosis (LINCL). Methods The clinical manifestations and family history of a 4-year-old girl with an established diagnosis of LINCL were investigated and the findings in EEG, magnetic resonance imaging (MRI) and histological examination were analyzed. Results EEG of the patient showed diffuse background slowing with bursts of generalized spike-and-wave discharges or polyspike-and-wave activity. Brain MRI for her and her brother revealed brain atrophy, especially diffuse cerebellar atrophy. Histopathological examination also showed diffuse damages in the gray matter where numerous degenerated and atrophic neurons were found. Some immature neurons occurred in the disrupted cortical lamination. Electron microscopy revealed numerous osmiophilic granular lipofuscin inclusions in the cytoplasm of the neurons. Conclusion This patient presented with typical clinical and cerebellar ultrastructural features of LINCL, but the inheritance characteristics of the patient and the prominent lipofuscin pigments in the neurons suggest a case of new LINCL variant.
