[Ultrastructural aspects of peripheral nerve lesions in one case of Farber's disease].
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.
D005260:Female; D006644:Histiocytes / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D007592:Joint Diseases / Q000151:congenital; D008064:Lipidoses / Q000151:congenital* / Q000473:pathology; D009186:Myelin Sheath / Q000473:pathology; D010525:Peripheral Nerves / Q000648:ultrastructure*; D010523:Peripheral Nervous System Diseases / Q000473:pathology*; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology
Aspects ultrastructuraux des lésions du nerf périphérique dans un cas de maladie de Farber