Expanded Phenotypic Spectrum of Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome: A Rare Case Featuring Supraventricular Tachycardia and Tethered Spinal Cord

TL;DR

A rare case of CEDNIK syndrome is reported with new symptoms of heart rhythm issues and spinal cord abnormalities.

Contribution

This case expands the known symptoms of CEDNIK syndrome by including supraventricular tachycardia and a tethered spinal cord.

Findings

Supraventricular tachycardia was identified in a CEDNIK syndrome patient for the first time.

A tethered spinal cord was observed in association with CEDNIK syndrome, a novel finding.

The case contributes to a broader understanding of the clinical variability in CEDNIK syndrome.

Abstract

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. Mutations in SNAP29 disrupt normal cellular processes, resulting in a broad spectrum of clinical manifestations, including facial dysmorphisms, microcephaly, severe developmental delay, hypotonia, ichthyosis, and peripheral neuropathy. In this report, we describe a rare case of CEDNIK syndrome featuring novel clinical findings, supraventricular tachycardia (SVT) and a tethered spinal cord, both of which have not been previously documented in association with this syndrome. These observations contribute to the expanding phenotypic spectrum of CEDNIK syndrome.

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