Abstract:
AIM:We describe the difficulties encountered in making a diagnosis where a somatic condition manifests itself alongside psychiatric symptoms associated with possible psychiatric comorbidities. METHODS:A case study is presented of a 15-year-old girl who was eventually diagnosed with ornithine transcarbamylase (OTC) deficiency (hyperammonaemia type II), following an initial diagnosis of pervasive developmental disorder, selective mutism, and anorexia nervosa. RESULTS:The OTC disease is not fully expressed in females and its prevalence is lower than in males. Around 17-20% of female patients found with a defective OTC gene on an X chromosome can suffer from OTC deficiency that may result in elevated levels of ammonia in the blood; this occurs when one of the X chromosomes become inactivated. Patients typically present with nausea, migraines, and a history of dietary protein avoidance. In more severe cases, ataxia, confusion, hallucinations, and cerebral oedema can occur. The OTC deficiency can thus remain undiagnosed in women for many years. CONCLUSION:Somatic comorbidity in psychiatric inpatients is commonly found; however, such disorders are rarely diagnosed or even treated adequately.
journal_name
Neuropsychobiologyjournal_title
Neuropsychobiologyauthors
Niwinski P,Remberk B,Rybakowski F,Rokicki Ddoi
10.1159/000508679subject
Has Abstractpub_date
2020-07-20 00:00:00pages
1-5eissn
0302-282Xissn
1423-0224pii
000508679pub_type
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pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:Neuropsychobiology
pub_type: 临床试验,杂志文章,随机对照试验
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pub_type: 临床试验,杂志文章
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journal_title:Neuropsychobiology
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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更新日期:1988-01-01 00:00:00