# Pyloric Stenosis in a Patient with CEDNIK Syndrome

## TL;DR

This paper reports a rare genetic disorder called CEDNIK syndrome and its complications in a four-month-old patient with pyloric stenosis and developmental delays.

## Contribution

The study contributes a new clinical case of CEDNIK syndrome with idiopathic pyloric stenosis and discusses its systemic implications.

## Key findings

- The patient exhibited failure to thrive, gastroesophageal reflux, and hypotonia, alongside CEDNIK syndrome features.
- Idiopathic pyloric stenosis was identified as a complicating factor in the patient's condition.
- The case highlights the need for coordinated care to manage systemic manifestations of CEDNIK syndrome.

## Abstract

We present a rare neurocutaneous genetic disorder where patients develop a combination of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma, commonly known as CEDNIK syndrome. It is an autosomal recessive inheritance involving the SNAP29 protein, mapped to the 22q11.2 gene. Phenotypic variation is seen with this disease, with clinical manifestation of developmental milestone delays ranging in severity. With only a handful of documented cases, available research, management of the syndrome, and prognosis are not well established. As CEDNIK syndrome has systemic implications, care coordination between specialists is essential in improving patient outcomes. Particularly important is preventing patients from meeting the criteria of failure to thrive, a commonly reported issue. In this case, we present a four-month-old male with a past medical history of pyloric stenosis status/post pyloromyotomy who has failure to thrive, gastroesophageal reflux disease, profound hypotonia, and delayed progression of developmental milestones. Additionally, the case is complicated by idiopathic pyloric stenosis, further contributing to the patient’s failure to thrive. We aim to discuss the pathophysiology of this syndrome, explore the timeline of disease progression, as well as compare our case to the current literature.