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Pyloric Stenosis in a Patient with CEDNIK Syndrome.
Cureus
May 2024
Gastroenterology, BayCare St. Joseph's Children's Hospital, Tampa, USA.
Article Synopsis
- CEDNIK syndrome is a rare genetic disorder characterized by a combination of brain abnormalities, nerve issues, skin conditions, and developmental delays, linked to mutations in the SNAP29 protein.
- The syndrome follows an autosomal recessive inheritance pattern and exhibits significant phenotypic variation, meaning symptoms can vary widely between patients.
- This case study focuses on a four-month-old male presenting with multiple medical challenges, including failure to thrive, and aims to discuss the underlying mechanisms, disease progression, and how this specific case relates to existing literature on CEDNIK syndrome.