Carbonic Anhydrase II Deficiency. A Report of Two Cases.
نویسندگان
چکیده
منابع مشابه
Carbonic 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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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 کاملThe 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 ...
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Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques wit...
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Background and Importance: Abscess of the hypophysis or pituitary adenoma is a very rare entity, and its preoperative diagnosis could be challenging. The clinical presentation is less specific, and despite the recent advancement in imaging, diagnosis before surgery is still difficult. Case Presentation: We reported two cases of pituitary abscesses in patients aged 38 and 42 years. The first ...
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ژورنال
عنوان ژورنال: Orthopedics & Traumatology
سال: 1994
ISSN: 1349-4333,0037-1033
DOI: 10.5035/nishiseisai.43.322