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Case Reports: Rare disease
Novel mutation causing Zellweger syndrome
  1. Sasidharan Adiyapatham1 and
  2. Ambalakkuthan Murugesan2
  1. 1Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, Puducherry, India
  2. 2Neonatology, JIPMER, Puducherry, India
  1. Correspondence to Dr Ambalakkuthan Murugesan; murugesan89{at}gmail.com

Abstract

Genetic conditions have varied presentations, and one of them is the association with multiple malformation syndrome (MMS), which has a high mortality rate in the immediate postnatal period. Here, we describe a neonate born with multiple anomalies—wide anterior and posterior fontanelle, metopic suture, flat nasal bridge, hypertelorism, low set dysplastic ears, corneal cloudiness, micrognathia, webbed neck, simian crease, undescended testis, hypospadias, congenital talipes equinovarus, hypoplastic inferior cerebellar vermis, poor reflexes, hypotonia and ventricular septal defect. There was a history of sibling death with similar malformations, pointing towards a genetic aetiology. Clinical exome sequencing yielded the diagnosis of Zellweger syndrome with a rare mutation in PEX-19 gene. Inherited metabolic syndromes frequently masquerade as malformations, but family history of an affected sibling and clinical suspicion aided diagnosis of the infant.

  • Genetics
  • Neonatal intensive care

https://doi.org/10.1136/bcr-2022-252014

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    Footnotes

    • Contributors SA managed the patient, reviewed the literature and drafted the manuscript. AM managed the patient, reviewed the manuscript and critically revised the manuscript. All authors contributed to reviewing of literature and drafting of the manuscript and approved the final version of the manuscript. AM shall act as the guarantor of the paper.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.