CAJ | 학술논문

目的通过分析1例晚期婴儿型神经元蜡样质脂褐素沉积病(LINCL)病例.探讨LINCL的临床、遗传和病理特点. 方法收集1例L1NCL患者的临床表现、家族史资料,并对其脑电图(EEG)、影像学和脑组织病理活检结果进行分析. 结果 EEG显示弥漫背景脑电慢化,间歇期阵发全面性棘慢波及尖慢波节律.头颅MRI检查发现患儿及其胞兄脑萎缩尤以小脑萎缩明显.脑组织活检光镜下见大脑皮层弥漫性损害,可见变性、萎缩和未成熟神经元.变性及萎缩的神经元内可见嗜银颗粒沉积,电镜下神经元胞浆中可见大量脂褐素样结构. 结论此例患者的临床和病理改变符合LINCL的诊断,但其特殊的家族遗传史及病理特征提示其可能为新的LINCL变异型.
목적 통과분석1례만기영인형신경원사양질지갈소침적병(LINCL)병례.탐토LINCL적림상、유전화병리특점. 방법 수집1례L1NCL환자적림상표현、가족사자료,병대기뇌전도(EEG)、영상학화뇌조직병리활검결과진행분석. 결과 EEG현시미만배경뇌전만화,간헐기진발전면성극만파급첨만파절률.두로MRI검사발현환인급기포형뇌위축우이소뇌위축명현.뇌조직활검광경하견대뇌피층미만성손해,가견변성、위축화미성숙신경원.변성급위축적신경원내가견기은과립침적,전경하신경원포장중가견대량지갈소양결구. 결론 차례환자적림상화병리개변부합LINCL적진단,단기특수적가족유전사급병리특정제시기가능위신적LINCL변이형.
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.