Introduction: Sensenbrenner syndrome, or cranioectodermal dysplasia (OMIM #218330), is a rare genetic condition inherited as an autosomal recessive with less than 70 reported cases worldwide. It results in multiorgan abnormalities along with ectodermal structural defects. No previous reported cases demonstrated primary hypothyroidism in a matter of Sensenbrenner syndrome.
Case presentation: Herein, we report a 6-year-old girl who suffered from progressive liver failure and end-stage renal disease secondary to Sensenbrenner syndrome, which was associated with severe primary hypothyroidism that completely recovered after a combined renal and liver transplant.
Conclusion: For the first time in the literature, we report an association of Sensenbrenner syndrome with hypothyroidism that resolved after a combined renal and liver transplant. Such findings expand the clinical spectrum of this syndrome. However, a larger cohort is needed to confirm or exclude such an association. Our case highlights the importance of thyroid function monitoring in any patient with renal and liver failure prior to and after a hepatorenal transplant.
Keywords: Cranioectodermal dysplasia; Cranioectodermal dysplasia 2; End-stage renal disease; Hepatorenal disease; Hypothyroidism; Liver failure; Sensenbrenner; Sensenbrenner syndrome; WDR35 gene.
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