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Anencephaly-associated aganglionosis

¹J.J.M. Medical College, Davengere, Karnataka, India.

American Journal of Medical Genetics

|January 8, 1999

Summary

Anencephaly, aganglionosis, and lateralization defects in infants may stem from a single developmental error. This study suggests a polytopic field defect during early embryogenesis could explain their co-occurrence.

Area of Science:

Developmental Biology
Pediatric Pathology
Medical Genetics

Background:

Anencephaly is a severe neural tube defect.
Aganglionosis (e.g., Hirschsprung disease) affects the enteric nervous system.
Lateralization defects involve asymmetric development.

Purpose of the Study:

To investigate the co-occurrence of aganglionosis and lateralization defects in infants with anencephaly.
To explore potential underlying developmental mechanisms for these combined anomalies.

Main Methods:

Postmortem examination of 12 infants diagnosed with anencephaly.
Detailed pathological assessment for aganglionosis and lateralization defects.

Main Results:

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Four out of 12 infants with anencephaly exhibited varying degrees of aganglionosis.

These four infants also presented with lateralization defects.

A notable co-occurrence of these three distinct defects was observed.

Conclusions:

The simultaneous occurrence of anencephaly, aganglionosis, and lateralization defects suggests a common etiological basis.
A blastogenesis aberration leading to a polytopic field defect is proposed as the unifying mechanism.
This finding has implications for understanding complex congenital anomalies.