This syndrome may be suspected on clinical grounds. The diagnosis is established by sequencing the TYROBP and TREM2 genes. Differential diagnosis * Frontotemporal dementia Investigations X rays show the presence of bone cysts and osteoporosis. CT or MRI of the brain show loss of tissue in the frontotemporal lobes of the brain. Calcification of the basal ganglia is common. EEG is typically normal initially but diffuse slowing and irritative activity later.
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Chronic multifocal Langerhans cell histiocytosis
Terminal osseous dysplasia with pigmentary defects
Generalized arterial calcification of infancy
Diffuse idiopathic skeletal hyperostosis
Diffuse capillary malformation with overgrowth
Fibrous hamartoma of infancy
Melanotic neuroectodermal tumor of infancy