In December, our journal club will examine two of the most challenging and ethically complex areas in paediatric and adult palliative care:
Revesz syndrome and
amyotrophic lateral sclerosis (ALS).We will begin with a
discussion of Revesz syndrome—a sporadic inherited telomere biology disorder recently identified in a child in Latvia. Using two key publications, we will explore the natural history of the disease, its ophthalmological and haematological complications, and the critical importance of a coordinated multidisciplinary and palliative approach for affected children.
- Karremann M., Neumaier-Probst E., Schlichtenbrede F., et al. (2020). Revesz syndrome revisited. Orphanet Journal of Rare Diseases, 15, 299.
Read:
https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01553-y2.
Asano M., Tsukamoto S., Sonoda K-H., & Kondo H. (2021). Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy. American Journal of Ophthalmology Case Reports, 23, 101137.Read:
https://pmc.ncbi.nlm.nih.gov/articles/PMC8220311/The second part of the session will focus on ALS, one of the most demanding conditions in adult palliative medicine. Drawing on a new qualitative study led by Pirett Paal, we will consider the ethical dilemmas faced by bereaved caregivers, the lived experience of long-term caregiving, and the implications for improving palliative care systems and family support.
3.
Paal, P., et al. (2025). “Every Day Was the Same, Equally Difficult”—A Qualitative Exploration of Bereaved Caregivers’ Ethical Dilemmas in Caring for a Family Member with Amyotrophic Lateral Sclerosis. Original Research Paper, Volume 18, Article 24 (2025).Read:
https://link.springer.com/article/10.1007/s12152-025-09597-2