Krzywińska-Zdeb Elzbieta, Gizewska Maria, Modrzejewska Monika, Romanowska Hanna, Stecewicz Iwona, Pawłowska Anna, Tuziak Martyna, Walczak Mieczysław
Z Kliniki Pediatrii, Endokrynologii, Diabetologii, Chorób Metabolicznych i Kardiologii Wieku Rozwojowego Pomorskiego Uniwersytetu Medycznego w Szczecinie.
Klin Oczna. 2011;113(7-9):266-9.
Gangliosidosis GM1 belongs to a group of lysosomal storage diseases and results from the deficiency of acidic beta-galactosidase activity. The enzyme is essential for the degradation of ganglioside GM1 and its derivatives. The disease causes multi-organ injury, however accumulation of ganglioside GM1 mainly in the brain white and gray matter results in predomination of neurological symptoms. Based on the actual knowledge--the condition is untreatable and especially in the very severe infantile form, the duration of the survival is very short. One of the characteristic symptoms of some lysosomal storage diseases, including gangliosidosis GM1, is "cherry-red" spot found in the fundus of the eye. In the publication the clinical course of gangliosidosis GM1 in two infants is presented. The value of an ophthalmological examination in the diagnosis of this rare condition has been emphasized.
GM1神经节苷脂贮积症属于一组溶酶体贮积病，是由于酸性β-半乳糖苷酶活性缺乏所致。该酶对于神经节苷脂GM1及其衍生物的降解至关重要。该疾病会导致多器官损伤，然而神经节苷脂GM1主要在脑白质和灰质中的蓄积导致神经症状占主导。基于目前的认知——这种病症无法治疗，尤其是在非常严重的婴儿型中，存活时间非常短。包括GM1神经节苷脂贮积症在内的一些溶酶体贮积病的特征性症状之一是在眼底发现“樱桃红斑”。本文发表了两名婴儿GM1神经节苷脂贮积症的临床病程。强调了眼科检查在诊断这种罕见病症中的价值。
