The neurology of carbonic anhydrase type II deficiency syndrome
نویسندگان
چکیده
منابع مشابه
The neurology of carbonic anhydrase type II deficiency syndrome.
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2-29 years) from 10 unrelated consanguineous families with ...
متن کاملCarbonic anhydrase II deficiency a novel mutation.
Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12 year old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our kn...
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Carbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification with associated developmental delay. It is inherited in an autosomal recessive fashion and found most frequently in the Mediterranean region a...
متن کاملCarbonic Anhydrase II Deficiency in a Saudi Woman
OBJECTIVE Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome. METHODS We describe the clinical and radiological...
متن کاملRenal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency
A 7‐year, 10‐month‐old boy, product of a consanguineous marriage, presented with short stature and a recent fracture of left forearm following a trivial trauma. There was no significant family history. His height was 103 cm (−3.7 standard deviation) [Table 1]. He had dysmorphic facies such as prominent forehead, thick lower lip, and blue sclera. He had 24 teeth; his temporary teeth had not shed...
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ژورنال
عنوان ژورنال: Brain
سال: 2011
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awr302