Conditions / Syndrome
Nasu-Hakola disease
info · Syndrome
A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding prot
A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21.
Signs and symptoms
- Lateral ventricle dilatation
- Bone cyst
- Dementia
- Abnormality of the hand
- Abnormal speech pattern
- Apraxia
- Caudate atrophy
- Seizure
- Urinary incontinence
- Disturbed sensory perception
Also known as: NHD; PLO-SL; PLOSL; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; presenile dementia with bone cysts