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Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome is a rare, autosomal recessive neurocutaneous disorder. It represents a progressive neurodegenerative condition caused by mutations in the synaptosome-associated protein 29 (SNAP29) gene, which encodes a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. This protein plays a critical role in intracellular membrane fusion and protein trafficking.
View Article and Find Full Text PDFPyloric 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.
Keratoderma and ichthyosis as valuable features for the diagnosis of CEDNIK syndrome.
JAAD Case Rep
April 2024
Department of Dermatology, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.
CEDNIK Syndrome - A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis.
Indian J Pediatr
August 2024
Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, 110060, India.
Neuroimaging in CEDNIK Syndrome: A Rare Neuro-Ichthyosis.
Neurol India
May 2022
Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.