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- Title
Psychiatric Symptoms as the First or Solitary Manifestation of Somatic Illnesses: Hyperammonaemia Type II.
- Authors
Niwinski, Piotr; Remberk, Barbara; Rybakowski, Filip; Rokicki, Dariusz
- 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.
- Subjects
PERVASIVE child development disorders; X chromosome; SYMPTOMS; DIAGNOSIS; AUTISM spectrum disorders
- Publication
Neuropsychobiology, 2021, Vol 80, Issue 3, p271
- ISSN
0302-282X
- Publication type
Article
- DOI
10.1159/000508679