Alobar holoprosencephaly

Case contributed by Hani Makky Al Salam

Presentation

Neurologically abnormal with an enlarged head.

Patient Data

Age: Neonate
Gender: Male

CT brain

ct

Non-contrast CT demonstrates a thin rim of cerebral tissue anteriorly, without midline cleft. There is a large CSF-density space posteriorly. There is no evidence of a falx cerebri. The cerebellum is malformed with abnormal appearance of the fourth ventricle. Brainstem is visualized.

In addition there are a number of other midline abnormalities:

  1. bony defect in the occipital bone with an occipital meningiocoele
  2. cleft lip and palate
  3. under-developed nose and hypotelorism

Case Discussion

This case demonstrates the typical appearances of alobar holoprosencephaly, incompatible with long term survival. 

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