Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.
Radiographs of 18 children thought to have carbonic anhydrase II deficiency were reviewed to assess intracranial calcification. These children have an autosomal recessive syndrome consisting of osteopetrosis, renal tubular acidosis, intracranial calcification, and developmental retardation. This calcification is in the gray matter of cortex and basal ganglia and is similar, if not identical, to that seen in hypoparathyroidism and pseudohypoparathyroidism. It is not present at birth but appears at approximately 2-5 years of age and increases in density and extent through childhood.
Cumming
W A
WA
Ohlsson
A
A
D000141:Acidosis, Renal Tubular / Q000235:genetics; D001927:Brain Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D002114:Calcinosis / Q000000981:diagnostic imaging* / Q000235:genetics; D002256:Carbonic Anhydrases / Q000172:deficiency*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010022:Osteopetrosis / Q000209:etiology* / Q000235:genetics; D011859:Radiography; D013577:Syndrome
D002256:Carbonic Anhydrases