title: A Case of Carbonic Anhydrase Type 2 Deficiency Syndrome with Autistic Disorder.
abstract: Carbonic Anhydrase Type II Deficiency Syndrome (CADS) is a disease with an autosomal recessive inheritance that mainly includes characteristics of osteopetrosis, renal tubular acidosis and cerebral calcification. Pathological fractures, poor vision due to cranial nerve pressure, wide forehead, disproportionate mouth and jaw, physical and mental developmental delay are other features. In this paper, we present the case of a patient who was referred to our department with a diagnosis of CADS and diagnosed with autistic disorder after a psychiatric evaluation. We performed a detailed literature search, however, we did not find any report of co-existence of CADS (osteopetrosis intermediate type) and autistic disorder.
authors.affiliation: Department of Child and Adolescent Psychiatry, Ankara University Faculty of Medicine, Ankara, Turkey.
authors.forename: Birim Günay
authors.initials: BG
authors.lastname: Kiliç
authors.affiliation: Department of Child and Adolescent Psychiatry, Ankara University Faculty of Medicine, Ankara, Turkey.
authors.forename: Çağatay
authors.initials: Ç
authors.lastname: Uğur
authors.affiliation: Department of Child and Adolescent Psychiatry, Ankara University Faculty of Medicine, Ankara, Turkey.
authors.forename: Nagihan
authors.initials: N
authors.lastname: Saday Duman
authors.affiliation: Department of Child and Adolescent Psychiatry, Ankara University Faculty of Medicine, Ankara, Turkey.
authors.forename: Melda
authors.initials: M
authors.lastname: Akçakin
keywords: Carbonic anhydrase type II dficiency syndrome; autism; osteopetrosis