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Background <p>Variants of the tousled-like kinase&#xa0;2 (<i>TLK2</i>) gene are rare and predominantly associated with neurodevelopmental phenotypes. In medically complex adults, such genomic findings can divert clinical attention to somatic causes, thereby misleading diagnostic and therapeutic decisions. Borderline personality disorder (BPD), on the other hand, can dominate symptomatology, utilization and team dynamics.</p> Case report <p>We report a woman in her twenties with a history of extensive abdominal surgery (multiple small bowel resections, ileostomy, PEG), high exposure to opioids, parenteral nutrition as well as recurring catheter infections and thrombosis. A heterozygous <i>TLK2</i> frameshift variant (c.362del, p.Pro121Argfs*4) was documented, but repeated assessments resulted in no progressive life-limiting organic process that would explain the high clinical care requirements.</p> <p>Features of BPS (with intermittent artificial elements) determined the course of events: repeated ideas, splitting phenomena, and the refusal of psychiatric admissions. Several specialist disciplines ultimately withdrew, so that palliative care was referred to as a “last resort”.</p> <p>The palliative care team focussed on clear indications, limitations, coordinated communication and structured analgesia (continuous subcutaneous hydromorphone infusion with low-dose ketamine via an ambulatory pump with lock-out periods) and refrained from unnecessary investigations. Between 2022 and 2025 there were repeated admissions owing to pain, stoma bleeding (endoscopic haemostasis in November 2024), catheter-associated infections (several PICC/port removals; pneumothorax after a Hickman attempt in March 2025), as well as brief admissions during dissociative episodes (July 2025).</p> Conclusions <p>In this context the <i>TLK2</i> finding served as a “red herring”. When psychiatric factors determine the course of care, early referral to psychiatric care models, clear criteria for distinguishing between palliative and psychiatric care, and boundary-protecting treatment protocols are crucial to limit moral burden and consumption of resources.</p>

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Wenn Genetik in die Irre führt: TLK2-Mutation bei Borderline-Persönlichkeitsstörung – ein Fallbericht

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月23日

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  • Jutta Hauser,
  • Martin Aigner,
  • Clemens Dejaco,
  • Sandra Danninger,
  • Gudrun Kreye

摘要

Background

Variants of the tousled-like kinase 2 (TLK2) gene are rare and predominantly associated with neurodevelopmental phenotypes. In medically complex adults, such genomic findings can divert clinical attention to somatic causes, thereby misleading diagnostic and therapeutic decisions. Borderline personality disorder (BPD), on the other hand, can dominate symptomatology, utilization and team dynamics.

Case report

We report a woman in her twenties with a history of extensive abdominal surgery (multiple small bowel resections, ileostomy, PEG), high exposure to opioids, parenteral nutrition as well as recurring catheter infections and thrombosis. A heterozygous TLK2 frameshift variant (c.362del, p.Pro121Argfs*4) was documented, but repeated assessments resulted in no progressive life-limiting organic process that would explain the high clinical care requirements.

Features of BPS (with intermittent artificial elements) determined the course of events: repeated ideas, splitting phenomena, and the refusal of psychiatric admissions. Several specialist disciplines ultimately withdrew, so that palliative care was referred to as a “last resort”.

The palliative care team focussed on clear indications, limitations, coordinated communication and structured analgesia (continuous subcutaneous hydromorphone infusion with low-dose ketamine via an ambulatory pump with lock-out periods) and refrained from unnecessary investigations. Between 2022 and 2025 there were repeated admissions owing to pain, stoma bleeding (endoscopic haemostasis in November 2024), catheter-associated infections (several PICC/port removals; pneumothorax after a Hickman attempt in March 2025), as well as brief admissions during dissociative episodes (July 2025).

Conclusions

In this context the TLK2 finding served as a “red herring”. When psychiatric factors determine the course of care, early referral to psychiatric care models, clear criteria for distinguishing between palliative and psychiatric care, and boundary-protecting treatment protocols are crucial to limit moral burden and consumption of resources.