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Rare association of cyclopia with craniospinal rachischisis

Lynda D Rodrigues1, Surekha U Arakeri1, Raga S Dwarampudi1

  • 1Department of Pathology, Shri B. M. Patil Medical College, Hospital and Research Centre, Bijapur, Karnataka, India.

Indian Journal of Pathology & Microbiology
|April 12, 2019
PubMed

Insights

Cyclopia, a severe birth defect, is rarely associated with anencephaly and spinal rachischisis. This case report highlights the importance of antenatal diagnosis and folic acid supplementation to prevent such anomalies.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Teratology

Background:

  • Cyclopia is a severe congenital anomaly characterized by a single eye socket, absent nose, and a proboscis.
  • It is a rare manifestation of holoprosencephaly, with an incidence of approximately 1.05 per 100,000 births.
  • Anencephaly and spinal rachischisis are other severe neural tube defects with varying incidences.

Observation:

  • The co-occurrence of cyclopia with anencephaly and spinal rachischisis is exceptionally rare, with only nine cases previously documented.
  • This report details an additional case of this rare combination of congenital anomalies.

Findings:

  • The study presents a case of cyclopia associated with anencephaly and spinal rachischisis, expanding the known spectrum of these conditions.
  • The findings underscore the complex interplay of genetic and environmental factors in severe congenital malformations.

Implications:

  • Increased awareness of this rare association can aid in earlier and more accurate antenatal diagnosis through fetal ultrasonography.
  • Public education on the importance of folic acid supplementation before and during pregnancy is crucial for preventing neural tube defects.
  • Early detection and genetic counseling can provide better support for affected families.

Keywords:
Anencephalycyclopiaholoprosencephalyspinal rachischisis.

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