Orthotopic liver transplantation for Sensenbrenner syndrome

Ruth Linda Ackah, Dor Yoeli, Michael Kueht, Nhu Thao Nguyen Galván, Ronald Timothy Cotton, Abbas Rana, Christine Ann O'Mahony, John Alan Goss

Research output: Contribution to journalArticle

Abstract

Sensenbrenner syndrome, or cranioectodermal dysplasia, is a rare heterogeneic autosomal recessive disorder, affecting ~1 of 1 000 000 live births. The syndrome usually manifests within the first year of life and can present with progressive liver and renal involvement. For all Sensenbrenner patients, renal and liver diseases are the main contributors of morbidity and mortality. In this report, we present the case of a 7-year-old boy with congenital liver disease progressing to liver failure secondary to Sensenbrenner syndrome. For this patient, evidence of liver dysfunction was evident from 2 months of age and progressed to frank cirrhosis and severe portal hypertension with multiple episodes of life-threatening variceal bleeding by age 6. This report illustrates the capability of orthotopic liver transplantation as a viable therapy for those pediatric patients suffering from severe liver failure secondary to a congenital ciliopathy, such as Sensenbrenner syndrome. In fact, early emphasis should be placed on the renal and liver involvement associated with Sensenbrenner syndrome with particular consideration for early referral for transplantation in cases with severe disease. Although the condition is rare, clinicians should be aware of it and its association with fatal liver disease to facilitate appropriate evaluation and referral.

Original languageEnglish (US)
Article numbere13077
JournalPediatric Transplantation
Volume22
Issue number1
DOIs
StatePublished - Feb 1 2018
Externally publishedYes

Keywords

  • ciliopathy
  • congenital liver disease
  • cranioectodermal dysplasia
  • pediatric liver transplantation
  • Sensenbrenner syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Transplantation

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  • Cite this

    Ackah, R. L., Yoeli, D., Kueht, M., Galván, N. T. N., Cotton, R. T., Rana, A., O'Mahony, C. A., & Goss, J. A. (2018). Orthotopic liver transplantation for Sensenbrenner syndrome. Pediatric Transplantation, 22(1), [e13077]. https://doi.org/10.1111/petr.13077