Intracranial calcification, retinopathy, and osteopenia: a new syndrome?
We describe two brothers with bilateral exudative retinopathy, intracranial calcifications, a sclerotic bony disorder, and normal intelligence. The younger brother also has osteopenia, mild splenomegaly, and pancytopenia. We review the literature with emphasis on the unique features of these patients.
Sazgar
Mona
M
Department of Medicine, Division of Neurology, University of Alberta Hospital, Edmonton, Canada.
Leonard
Norma J
NJ
Renaud
Deborah L
DL
Bhargava
Ravi
R
Sinclair
D Barry
DB
D000293:Adolescent; D001851:Bone Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics; D002114:Calcinosis / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D012160:Retina / Q000473:pathology*; D013577:Syndrome