van Noort G, Straks W, Van Diggelen O P, Hennekam R C
Streeklaboratorium voor Pathologie, Enschede, The Netherlands.
Pediatr Pathol. 1993 Sep-Oct;13(5):685-98. doi: 10.3109/15513819309048254.
Three related patients are described with glycogenosis type IV with an unusual clinical presentation resulting in perinatal death. Stored material showed birefringent Maltese crosses and was present in skeletal muscles, heart, central nervous system, and liver. Muscular dysfunction resulted in a fetal hypokinesia sequence with arthrogryposis and lung hypoplasia. A subdivision of glycogenosis type IV in four subtypes is proposed, based on age of onset. Measurement of the enzyme activities in different tissues does not permit, at the moment, a distinction between the subtypes.
本文描述了三例患有IV型糖原贮积病的相关患者，其临床表现异常，导致围产期死亡。储存物质显示出双折射的马耳他十字，存在于骨骼肌、心脏、中枢神经系统和肝脏中。肌肉功能障碍导致胎儿运动减少序列，伴有关节挛缩和肺发育不全。根据发病年龄，提出将IV型糖原贮积病细分为四个亚型。目前，通过测量不同组织中的酶活性无法区分这些亚型。
