[An intermediate, generalized form of neuroaxonal dystrophy--light- and electron microscopic findings]

This report concerns a 11-year-old girl--at the time of death--who developed normally until the age of 2 years when further psychomotoric maturation stopped and then regressed. The disease was diagnosed as neuroaxonal dystrophy (NAD) by sural nerve biopsy at the age of 7. Further course was characterized by complete loss of all motoric and sensory functions and dementia as well. Finally there was decerebration. The autopsy revealed generalized NAD associated with pallidal deposition of iron pigment to classify as generalized intermediate NAD type II according to Gilman and Barrett (1973). The main histological findings were axonal swellings and spheroids consisting ultrastructurally of membrano-tubular profiles, lamellar structures, vacuoles, glycogen granules and mitochondrial aggregates. Immunohistologically there was partial positive expression of synaptophysin and neurofilament protein in the spheroids. Firstly described electron microscopical findings in the retina include the typical axonal lesions largely in interior layers. Photoreceptors and their synaptic contacts were preserved. The present blindness is of the neuronal type. The current etiopathogenetic opinions, aspects of bioptic diagnosis and problems of classification of primary NADs are discussed.