Ohlsson A, Cumming W A, Paul A, Sly W S
Pediatrics. 1986 Mar;77(3):371-81.
Four new Saudi Arabian cases of the carbonic anhydrase II deficiency syndrome from two families are described. This autosomal recessive syndrome includes osteopetrosis with renal tubular acidosis and cerebral calcification. Additional features are mental retardation, growth failure, typical facial appearance, and abnormal teeth. Two patients showed evidence of restrictive lung disease, a finding not previously described. One of the patients reported represents the first neonate reported to be affected with this syndrome. Intrauterine growth was normal, but metabolic acidosis was already evident in the neonatal period. Radiographic evidence of osteopetrosis was probably absent at birth but appeared during the late neonatal period. Carbonic anhydrase II deficiency was demonstrated in erythrocyte hemolysates from the older two siblings of this neonate, and a 50% normal level of carbonic anhydrase II was demonstrated in the erythrocyte hemolysate from their father.
本文描述了来自两个家庭的4例沙特阿拉伯碳酸酐酶II缺乏综合征新病例。这种常染色体隐性综合征包括伴有肾小管酸中毒和脑钙化的骨硬化症。其他特征还有智力迟钝、生长发育迟缓、典型的面部外观和牙齿异常。两名患者表现出限制性肺病的迹象，这是以前未曾描述过的发现。报告的其中一名患者是首例被报道患该综合征的新生儿。其子宫内生长正常，但在新生儿期就已出现代谢性酸中毒。骨硬化症的影像学证据在出生时可能不存在，但在新生儿后期出现。在该新生儿的两个哥哥姐姐的红细胞溶血产物中证实了碳酸酐酶II缺乏，在他们父亲的红细胞溶血产物中证实碳酸酐酶II水平为正常水平的50%。
