CASE REPORT


Hindquarter Amputation as a Successful Treatment of Chronic Pain in an Adolescent with PTEN Hamartoma Tumor Syndrome



Fiona J Taverner1, Nicole E Wylie1, Lachlan DM Farmer2, Christopher P Barnett3, Ping HJ Yeung4, Laura L Burgoyne*, 1
1 Children’s Anaesthesia, Women’s and Children’s Hospital, North Adelaide, Australia
2 Department of Plastic and Reconstructive Surgery, Women's and Children's Hospital, North Adelaide, Australia
3 Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, Australia
4 Medical Imaging, Women's and Children's Hospital, North Adelaide, Australia


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Creative Commons License
© 2023 Taverner et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the author Children’s Anaesthesia, Women’s and Children’s Hospital, 72 King William Rd, North Adelaide, SA 5006, Australia; E-mail: laura.burgoyne@sa.gov.au


Abstract

Background:

The PTEN hamartoma tumor syndrome comprises a group of rare conditions caused by germline mutations of the tumor suppressor gene PTEN (Phosphatase and TENsin homolog deleted on chromosome 10). They include Cowden syndrome, Lhermitte-Duclos disease, and Bannayan–Riley–Ruvalcaba syndrome, but it appears likely that these conditions represent the spectrum of PTEN hamartoma tumor syndrome, in which penetrance and clinical variability play significant roles. The clinical features of PTEN hamartoma tumor syndrome vary between individuals and can appear at any age. They include an increased risk for certain types of cancers and benign tumors, as well as tumor-like malformations (hamartomas) and neurodevelopmental disorders.

Case Presentation:

We report the case of an adolescent male with PTEN hamartoma tumor syndrome who developed severe chronic pain in the context of multiple arteriovenous malformations of the left lower limb. He successfully underwent hindquarter amputation to manage a nonhealing ulcer, recurrent episodes of life-threatening hemorrhage, and escalating analgesic requirements. He had a remarkable recovery with neither pain nor phantom sensory issues and significant improvement in his quality of life.

Conclusion:

Despite chronic preoperative pain, the radical surgery in this patient with PTEN hamartoma tumor syndrome resulted in an improved quality of life and virtually no long-term pain or analgesia requirements.

Keywords: Chronic Pain, PTEN Hamartoma Tumor Syndrome, Surgery, Patient, Disease, Condition.