Kara Doğuş Özdemir, Şahpaz Ahmet
Department of Pathology, Ankara Branch of the Council of Forensic Medicine, Ankara.
Department of Pathology, Erzurum Branch of the Council of Forensic Medicine, Erzurum, Turkey.
Turk J Pediatr. 2019;61(6):953-957. doi: 10.24953/turkjped.2019.06.020.
Özdemir Kara D, Şahpaz A. Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases. Turk J Pediatr 2019; 61: 953-957. GM1 gangliosidosis is an autosomal recessive lysosomal storage disease which is characterized by the accumulation of GM1 ganglioside, sphingolipids, glycoprotein bound oligosaccharides and keratan sulphate. Three major clinical forms have been identified depending on the enzyme levels, the timing of onset and severity of the manifestations; infantile form being the most severe. We herein present the clinical features and the histopathological findings of the central nervous system of two cases with type I infantile gangliosidosis; the first one had been diagnosed when she was 8 months old and died at the age of 3; the second one had been diagnosed when he was 10 months old and died at the age of 2. Correlations between clinical features and histopathological findings have been discussed. Postmortem examination of both cases revealed a severe cortical thinning of cerebrum and cerebellum, accompanied by ventricular dilatation. Light microscopic evaluation of cerebral, cerebellar and brainstem sections demonstrated a distortion of normal parenchymal structures and presence of cellular aggregates bearing large, foamy and eosinophilic cytoplasm. Clinical records of the cases revealed a history of delayed mental and motor development, and frequently recurring infection episodes for both cases. Postmortem histopathological examination of such cases enables us to thoroughly identify and describe the multisystemic organ pathologies stemming from gangliosidosis. In this report, we aim to put an emphasis on the specific postmortem neuropathological findings in GM1 gangliosidosis. For a definitive diagnosis, documentation of low ß-galactosidase enzyme levels in leucocytes is a must.
厄兹德米尔·卡拉D、沙赫帕兹A。两例GM1神经节苷脂贮积症尸检病例的中枢神经系统病理发现。《土耳其儿科学杂志》2019年；61：953 - 957。GM1神经节苷脂贮积症是一种常染色体隐性溶酶体贮积病，其特征是GM1神经节苷脂、鞘脂、糖蛋白结合寡糖和硫酸角质素的蓄积。根据酶水平、发病时间和表现的严重程度，已确定三种主要临床类型；婴儿型最为严重。我们在此呈现两例I型婴儿型神经节苷脂贮积症患者中枢神经系统的临床特征和组织病理学发现；第一例在8个月大时被诊断，3岁时死亡；第二例在10个月大时被诊断，2岁时死亡。讨论了临床特征与组织病理学发现之间的相关性。两例病例的尸检均显示大脑和小脑严重皮质变薄，并伴有脑室扩张。对大脑、小脑和脑干切片的光镜评估显示正常实质结构扭曲，存在带有大的、泡沫状和嗜酸性细胞质的细胞聚集物。病例的临床记录显示两例患者均有智力和运动发育迟缓以及频繁反复感染发作的病史。对此类病例进行尸检组织病理学检查使我们能够全面识别和描述由神经节苷脂贮积症引起的多系统器官病变。在本报告中，我们旨在强调GM1神经节苷脂贮积症特定的尸检神经病理学发现。为明确诊断，必须记录白细胞中低β - 半乳糖苷酶水平。
