Vital C, Battin J, Rivel J, Hehunstre J P
Rev Neurol (Paris). 1976 Jun;132(6):419-23.
The patient is a girl who had amyotrophia, dyspnea and juxta-articular nodes. She died at the age of 14 months. Ultrastructural examination of a sural nerve biopsy revealed anormal inclusions in the cytoplasm of numerous myelinated fibres. They are round or oval, and empty, sometimes with a great diameter. Some histiocytes show also such bodies. These are different from those seen in the other neurolipidosis.
该患者为一名患有肌萎缩、呼吸困难和关节旁结节的女孩。她于14个月大时死亡。腓肠神经活检的超微结构检查显示,许多有髓纤维的细胞质中有异常包涵体。它们呈圆形或椭圆形,为空泡状,有时直径很大。一些组织细胞也显示出这样的小体。这些与其他神经脂质沉积症中所见的不同。