open access

Vol 15, No 1 (2021)
Case report
Published online: 2021-01-11
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Palliative surgery in a patient diagnosed with trisomy 18 and rare neurological comorbidities

Paula Szenejko1, Stefan Anzelewicz2, Piotr Czauderna2
·
Palliat Med Pract 2021;15(1):76-79.
Affiliations
  1. Medical University of Gdańsk, Marii Skłodowskiej-Curie 3a, 80-210 Gdańsk, Poland
  2. Department of Pediatric Surgery and Urology, Nowe Ogrody 1-6, 80-803 Gdańsk, Poland

open access

Vol 15, No 1 (2021)
Case report
Published online: 2021-01-11

Abstract

Introduction: The authors describe a case of a patient with a prenatal diagnosis of Trisomy 18 with atypical
manifestation, rare anomalies of the central nervous system and subsequent surgical treatment.
Case presentation: The infant was diagnosed with holoprosencephalia, schizencephalia, corpus callosum
agenesis and severe hydrocephalus. No significant heart, gastrointestinal or kidney defects were found.
Being in otherwise good condition, the patient was qualified for a ventriculi-peritoneal shunt surgery due
to rapidly increasing head circumference. Following the uneventful operation patient’s parents reported
a general improvement in their child condition.
Conclusions: Bearing in mind the possibility of complications and the child’s poor prognosis, the reasons
for surgical intervention were evaluated, as well as the possible outcomes of withholding invasive treatment.
Discussion over the benefits of palliative surgery and the risk of ‘palliative harm’ illustrate how selected
children benefit from an interventionist approach.

Abstract

Introduction: The authors describe a case of a patient with a prenatal diagnosis of Trisomy 18 with atypical
manifestation, rare anomalies of the central nervous system and subsequent surgical treatment.
Case presentation: The infant was diagnosed with holoprosencephalia, schizencephalia, corpus callosum
agenesis and severe hydrocephalus. No significant heart, gastrointestinal or kidney defects were found.
Being in otherwise good condition, the patient was qualified for a ventriculi-peritoneal shunt surgery due
to rapidly increasing head circumference. Following the uneventful operation patient’s parents reported
a general improvement in their child condition.
Conclusions: Bearing in mind the possibility of complications and the child’s poor prognosis, the reasons
for surgical intervention were evaluated, as well as the possible outcomes of withholding invasive treatment.
Discussion over the benefits of palliative surgery and the risk of ‘palliative harm’ illustrate how selected
children benefit from an interventionist approach.

Get Citation

Keywords

trisomy 18, Edwards syndrome, hydrocephalus, schizencephaly, holoprosencephalia, palliative surgery

About this article
Title

Palliative surgery in a patient diagnosed with trisomy 18 and rare neurological comorbidities

Journal

Palliative Medicine in Practice

Issue

Vol 15, No 1 (2021)

Article type

Case report

Pages

76-79

Published online

2021-01-11

Page views

538

Article views/downloads

539

DOI

10.5603/PMPI.2021.0003

Bibliographic record

Palliat Med Pract 2021;15(1):76-79.

Keywords

trisomy 18
Edwards syndrome
hydrocephalus
schizencephaly
holoprosencephalia
palliative surgery

Authors

Paula Szenejko
Stefan Anzelewicz
Piotr Czauderna

References (13)
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  2. Munch T, Rostgaard K, Rasmussen ML, et al. Familial aggregation of congenital hydrocephalus in a nationwide cohort. Brain. 2012; 135(8): 2409–2415.
  3. Tully HM, Dobyns WB. Infantile hydrocephalus: a review of epidemiology, classification and causes. Eur J Med Genet. 2014; 57(8): 359–368.
  4. Metwalley KA, Farghalley HS, Abd-Elsayed AA. Congenital hydrocephalus in an Egyptian baby with trisomy 18: a case report. J Med Case Rep. 2009; 3: 114.
  5. Wilkinson D. Ethical Dilemmas in Postnatal Treatment of Severe Congenital Hydrocephalus. Camb Q Healthc Ethics. 2016; 25(1): 84–92.
  6. Graham E. Niemowlęta z Trisomią 18 i złożonymi wrodzonymi wadami serca nie powinny poddawać się otwartej operacji serca. J Law Medicine Ethics. 2016; 44(2): 286–291.
  7. Cereda A, Carey J. Zespół trisomii 18. Orphanet J Rare Dis. 2012; 7(1): 81.
  8. Rege SV, Patil H. Bilateral giant open-lip schizencephaly: A rare case report. J Pediatr Neurosci. 2016; 11(2): 128–130.
  9. Silberberg A, Robetto J, Grimaux G, et al. Ethical issues about the paradigm shift in the treatment of children with trisomy 18. Eur J Pediatr. 2020; 179(3): 493–497.
  10. Kattwinkel J, Perlman JM, Aziz K, et al. American Heart Association. Neonatal resuscitation: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care. Pediatrics. 2010; 126(5): e1400–e1413.
  11. Spierson H, Masood Y, Craigie RJ, et al. Trisomy 18: palliative surgical intervention. Arch Dis Child. 2018; 103(10): 1001.
  12. Dyer C. Parents fail to overturn ruling not to resuscitate baby. BMJ. 2005; 330(7498): 985.
  13. Jaykar R, Patil S. Indications of ventriculoperitoneal shunt: a prospective study. International Surgery Journal. 2017; 4(4): 1319.

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