Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.

Abstract:

: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.

journal_name

Radiology

journal_title

Radiology

authors

Cumming WA,Ohlsson A

doi

10.1148/radiology.157.2.2413500

subject

Has Abstract

pub_date

1985-11-01 00:00:00

pages

325-7

issue

2

eissn

0033-8419

issn

1527-1315

journal_volume

157

pub_type

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