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Cat eye syndrome.

Deepak Sharma1, Srinivas Murki1, Tejo Pratap1

  • 1Department of Neonatology, Fernandez Hospital, Hyderabad, Andhra Pradesh, India.

BMJ Case Reports
|May 21, 2014
PubMed
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This study reports a rare case of Cat Eye Syndrome in a neonate presenting with complex congenital heart disease, including pulmonary atresia and hypoplastic right ventricle. The genetic analysis revealed an extra marker chromosome, confirming the diagnosis.

Area of Science:

  • Medical Genetics
  • Pediatric Cardiology
  • Clinical Dysmorphology

Background:

  • Congenital heart disease (CHD) poses a significant challenge in neonates, requiring early diagnosis and intervention.
  • Cat Eye Syndrome (CES) is a rare chromosomal disorder characterized by a specific set of physical anomalies and potential organ involvement.

Observation:

  • A full-term neonate presented with severe CHD, including hypoplastic right ventricle and pulmonary atresia with an intact septum.
  • Distinct dysmorphic features were noted, such as microcephaly, periorbital puffiness, retrognathia, and postaxial polydactyly.
  • Ophthalmological examination revealed bilateral chorioretinal coloboma.

Findings:

  • Postnatal echocardiography confirmed complex CHD with a large atrial septal defect, right ventricle hypoplasia, pulmonary atresia, and a patent ductus arteriosus.

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  • Karyotyping identified an extra small marker chromosome, indicative of Cat Eye Syndrome.
  • The constellation of cardiac, dysmorphic, and ocular findings strongly suggested CES.

    • Implications:

    • This case highlights the importance of comprehensive genetic and clinical evaluation in neonates with complex CHD and multiple congenital anomalies.
    • Early identification of Cat Eye Syndrome is crucial for timely management of associated cardiac and other potential health issues.
    • Further research into the genotype-phenotype correlations in CES can improve diagnostic accuracy and patient care.