[MIM 221 770]

(Nasu-Hakola disease, PLOSL, presenile dementia with bone cysts)

Extremely rare. Form of hereditary leukodystrophy presenting a presenile dementia with recurrent fractures due to polycystic lesionsin the bones of the extremities. The prevalence of this affection seem frequent in Finland and Japan. Autosomal recessive transmission of a mutation of the  TYROBP or DAP12 gene on 19q13.12 or, more rarely, TREM2 gene on 6p21.1.

Evolution in 4 phases:

-        latent phase: childhood and early adolescence

-        bone phase: pain in the bones of the hands, feet, wrists and ankles and fractures due to polycystic bone lesions containing a membranous tissue with lamellar structures and fat

-        early neurological phase: between the age of 30 and 40 years: personality changes of frontal type (euphoria, social inhibitions, disorders of the judgment); memory disorders, sometimes epilepsy; MRI: atrophy of the white substance at the frontal level  and bilateral calcifications in the basal ganglia

-        late neurological: deep dementia, mutism, death around the age of 50 years

Anesthetic implications:

brittle bones, dementia

References : 

-         Paloneva J, Auti T, Raininko R, Partanen J et al. 
CNS manifestations of Nasu-Hakola disease : a frontal dementia with bone cysts. 
Neurology 2001; 56: 1552-8.

-         Bianchin MM, Capella HM, Chavec DL, Steindel M, Grisard EC et al. 
Nasu-Hakola disease ( PLSOL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. 
Cellular and Molecular Neurobiol 2004; 24: Feb 24 p

-         Panchmatia JR, Jiwa N, Soneji N, Murphy JP. 
Nasu-Hakola syndrome: an unusual cause of pathological fractures. 
Case Reports in Orthopedics 2012; ID 817189

-         Herd RS, Sprung J, Weingarten TN. 
Primary osteolysis syndromes: beware of difficult airway. 
Pediatr Anesth 2015; 25: 727-37.

Updated: January 2019