Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Definition
A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
Also known as Nasu-Hakola disease, NHD, PLO-SL, PLOSL, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly — per MONDO