title: Infantile neuroaxonal dystrophy. An electron microscopic study of a case clinically resembling neuronal ceroid-lipofuscinosis.
abstract: An unusual case of infantile neuroaxonal dystrophy (INAD) in which seizures were the presenting and predominant clinical feature is described. Although the clinical manifestations were indistinguishable from neuronal ceroid-lipofuscinosis, the diagnosis was readily established by electron microscopic examination of the brain biopsy specimen. Even after the ultrastructural features were known, the dystrophic axons were not evident by light microscopy. This case broadens the clinical picture of INAD to include seizures as the presenting complaint and suggests that some patients with childhood epilepsy who "deteriorate" may have this genetically determined disease.
mesh_terms: D001369:Axons / Q000648:ultrastructure; D001927:Brain Diseases / Q000473:pathology*; D005260:Female; D005625:Frontal Lobe / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000473:pathology*; D012640:Seizures; D013036:Spasms, Infantile; D013572:Synaptic Vesicles