Nasu Hakola disease

• Rare hereditary Autosomal Recessive disorder.
• Also known as Polycystic Lipomembranous Osteopathy with Sclerosing Leukoencephalopathy (PLOSL). 
• Progressive presenile dementia, with associated recurrent bone fractures, due to cystic lesion of long bones. 
• Progresses in  4 stages: Latent, Osseous, Early neurologic and late neurologic. The disease may not be recognized until the neurologic symptoms start in the third or fourth decade, characterized mainly by frontal lobe symptoms of loss of concentration, loss of social inhibition, loss of judgement etc.
• Radiologically white matter hyperintensities of brain, neuroparenchymal atrophy, basal ganglia calcifications, especially putaminal etc are noted. Caudate head atrophy with widening of frontal horns as in Huntingtons disease may be seen, with increased intercaudate distance to inner table width ratio.
• No treatment is available at present and death usually occurs by 5th decade.