Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system.
An 8-year-old girl had progressive muscle weakness and a unique posture of the lower limbs, areflexia, distal sensory impairment, and remarkably kinky hair. Histologic examination of the sural nerve showed giant axons filled with neurofilamentous masses. The clinical and histologic findings resembled those of recent cases reported as "giant axonal neuropathy." Our patient's precocious puberty, Babinski's sign, and electroencephalographic abnormalities suggested central nervous system involvement. Two cases previously reported and the present one appear to represent a new clinical entity that affects the central and the peripheral nervous system.
D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D002493:Central Nervous System Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D004569:Electroencephalography; D005260:Female; D005684:Gait; D006197:Hair; D006801:Humans; D009431:Neural Conduction; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D011629:Puberty, Precocious / Q000209:etiology; D001405:Reflex, Babinski; D013497:Sural Nerve / Q000473:pathology