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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.

SUBMITTER: Kilic BG

PROVIDER: S-EPMC5353094 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature

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A Case of Carbonic Anhydrase Type 2 Deficiency Syndrome with Autistic Disorder.

Kiliç Birim Günay BG Uğur Çağatay Ç Saday Duman Nagihan N Akçakin Melda M

Noro psikiyatri arsivi 20140601 2

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 d ...[more]

PMID: 28360619

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carbonic anhydrase (1 or 2) simple or double mutants-Comparative transcriptome analysis between carbonic anhydrase mutants and wild type Arabidopsis

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