Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.
Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy in two children with progressive mental deterioration. Conjunctival biopsy, which is simple to perform, even in young children, and does not require general anaesthesia or admission to hospital, is presented as a reliable and very convenient technique for the diagnosis of infantile neuroaxonal dystrophy.
D001369:Axons / Q000473:pathology; D001706:Biopsy; D003228:Conjunctiva / Q000294:innervation / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure; D009412:Nerve Fibers / Q000648:ultrastructure; D009422:Nervous System Diseases / Q000473:pathology*