Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Neurology, Warsaw, Poland,
Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Neurology, Warsaw, Poland.
Neuropsychobiology. 2021;80(3):271-275. doi: 10.1159/000508679. Epub 2020 Jul 20.
We describe the difficulties encountered in making a diagnosis where a somatic condition manifests itself alongside psychiatric symptoms associated with possible psychiatric comorbidities.
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.
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.
Somatic comorbidity in psychiatric inpatients is commonly found; however, such disorders are rarely diagnosed or even treated adequately.
我们描述了在一种躯体疾病伴有与可能的精神共病相关的精神症状时做出诊断所遇到的困难。
我们呈现了一例 15 岁女孩的病例研究，她最初被诊断为广泛性发育障碍、选择性缄默症和神经性厌食症，最终被诊断为鸟氨酸转氨甲酰酶（OTC）缺乏症（高氨血症 II 型）。
OTC 疾病在女性中不完全表达，其患病率低于男性。大约 17-20%的女性患者在 X 染色体上发现有缺陷的 OTC 基因，可能患有 OTC 缺乏症，这可能导致血液中氨水平升高；当其中一条 X 染色体失活时就会发生这种情况。患者通常表现为恶心、偏头痛和避免饮食蛋白质的病史。在更严重的情况下，可能会出现共济失调、意识混乱、幻觉和脑水肿。因此，女性中的 OTC 缺乏症可能多年未被诊断。
精神科住院患者中常见躯体共病；然而，这些疾病很少被诊断出来，甚至没有得到充分治疗。
