A Rare Case of Bladder Exstrophy in a Neonate


Primary author: Chacko, Ann DO

Mentor: Huff, Monica MD

Abstract:

CHARGE syndrome is a rare disorder which occurs in 1 in 10,000 births. It manifests in multiple organ systems. Among cases exhibiting typical CHARGE or a milder phenotyle, CHD7 analysis detected pathogenic variants in 65% to 70% of cases. CHD7 is thought to play a role in activating transcription factors that are responsible for neural crest cell migration. We report the case of an infant who met clinical and genetic criteria for a diagnosis of CHARGE syndrome. This patient’s particular pathogenic variant has not previously been reported and is suspected to be a de novo mutation, however low level mosaicism cannot be excluded. Our patient’s genetic p.V1021g change has been reported once in a female CHARGE patient with isolated gonadotropin releasing hormone deficiency. Furthermore, while genitourinary malformations have been reported in 61% of cases, they are less common in females and there have not been previous associations with bladder exstrophy.

 

References:

1. Van Ravenswaaij, Conney, et al. , Helene, et al. “CHD7 Disorder” GeneReviews, 2006 Oct 2.

 

2. Sakata, S., Okada, et al (2017). Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report. Frontiers in genetics, 8, 210. https://doi.org/10.3389/fgene.2017.00210

 

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