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.

Acute PCA territory infarct

Right occipital lobe and thalamic involvement.

Right posteromedial temporal lobe infarct.

Absent flow in right PCA (P2) (Black arrow) in TOF MRA MIP images. White arrow pointing to left PCA P2 segment.

The major PCA segments are the Pre-communicating / Peduncular / P1 segment, Ambient / P2 segment and the Quadrigeminal / P3 segment.

The major branches from P1 segment include Posterior thalamo-perforating arteries and the median posterior choroidal artery.

Major branches from P2 segment of PCA includes lateral posterior choroidal artery and posterior choroidal artery.

Inferior temporal arteries, parieto-occipital artery, calcarine artery, posterior pericallosal (splenial) arteries are the major branches of the P3 or quadrigeminal segment of PCA.



Reference : Diagnostic Neuroradiology, Anne.G.Osborn, 1994.