Psychiatric Symptoms as the First or Solitary Manifestation of Somatic Illnesses: Hyperammonaemia Type II, 2020, Niwinski et al

Andy

Andy

Retired committee member
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.
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Paywall, https://www.karger.com/Article/Abstract/508679
Sci hub, https://sci-hub.tw/10.1159/000508679
 
Sean said:
And neurological disorders/brain tumours/strokes/heart disease. Etc.

The functional disorders claim rest entirely on the assumption that there is no underlying biological pathology. How they test that to a safe level has yet to be explained.
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And how that fits with "First, do no harm" baffles me......

At best poor quality, lazy communication can be to blame. As in: For example, a neurologist has a 'normal' neuro screen/examination and 'normal' MRI and concludes that there is nothing for him/her to do/act on - so states this and does it in a way that suggests - 'nothing is wrong' which is not the same as "I've done some tests, scans and assessment/examination and I cannot see a condition I can have further input into and helping clinically with". The patient can see / understand this very differently. Sometimes a lot of what goes on is missed/mixed communication. i.e. patients understandably want to find out/know what the heck is wrong with them. The Neurologist wants to ensure that they have not missed major neuro disease that they can treat/diagnose - i.e. take some positive action to help the patient. These two things are different. Expectations can and do clash all of the time. It is, in my view, up to the professional in the room to manage this - not the patient.

At it's worst - and I've read the reports - it can amount to things like "As your scans, tests and examination were unremarkable, my view is that your symptoms are related to your anxiety and depression." Without checking out if this is helpful, useful or even remotely plausible to the patient or their GP. And not surprisingly patient can interpret this as character assassination and be less than pleased about it. Can cause avoidable psychological harm.
 
Arnie Pye said:
Well, I have always thought that "First do no harm" allows for doctors to do nothing. If they do nothing then they aren't causing harm. They aren't preventing harm either, but that never gets mentioned.
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Doing nothing at times can be really detrimental and the opposite true too in other circumstances. I understand 'First, do no harm' in the context of: making the doctor stop and think before acting or not acting - depending on the context and situation. Both over and under 'doing' things could cause harm - including psychological harm - context is all.
 
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