Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain.
Cerebral calcification in children is frequently associated with systemic metabolic disease. We present a case of "marble brain syndrome", which showed this abnormality.
Jacquemin
C
C
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Mullaney
P
P
Svedberg
E
E
D000141:Acidosis, Renal Tubular; D001921:Brain / Q000000981:diagnostic imaging; D001927:Brain Diseases / Q000000981:diagnostic imaging*; D002114:Calcinosis / Q000000981:diagnostic imaging*; D002256:Carbonic Anhydrases / Q000172:deficiency; D002648:Child; D005260:Female; D006801:Humans; D010022:Osteopetrosis / Q000000981:diagnostic imaging*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D002256:Carbonic Anhydrases