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CASE REPORT
Semilobar holoprosencephaly with 21q22 deletion: an autopsy report
  1. Saumyaranjan Mallick1,
  2. Shasanka Shekhar Panda2,
  3. Ruma Ray1,
  4. Rashmi Shukla3,
  5. Madhulika Kabra3,
  6. Ramesh Agarwal3
  1. 1Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
  2. 2Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India
  3. 3Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India
  1. Correspondence to Dr Saumyaranjan Mallick, drsmallick.aiims{at}gmail.com

Summary

Holoprosencephaly (HPE) is the most common forebrain developmental anomaly with a prevalence of 1:16 000 live-births. Possible aetiological agents include environmental factors and genetic defects such as trisomies (13, 18) and deletions (18p, 7q, 2p and 21q). This complex malformation is due to incomplete division of the cerebral hemisphere. The phenotypes of HPE include alobar, semilobar, lobar and midline interhemispheric fusion variants. Craniofacial anomalies occur in 80% of cases. Severely affected babies die in the neonatal period. Here we report an autopsied case of semilobar HPE with pituitary and adrenal agenesis with 21q22 deletion. Additional findings are noted that would help expand the spectrum of 21q22 deletion.

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