Alobar holoprosencephaly

Alobar holoprosencephaly is a subtype of holoprosencephaly (HPE), and is the most severe of the classical three subtypes, with both semilobar holoprosencephaly and lobar holoprosencephaly having less severe clinical manifestations.

For a general discussion of epidemiology, clinical presentation and pathology, please refer to the main article on holoprosencephaly.

As with all types of holoprosencephaly, it is a rare congenital brain malformation in which there is failure of complete separation of the two hemispheres (which usually occurs around the 4th to 6th weeks) and failure of transverse cleavage into diencephalon and telencephalon.

As with most cerebral structural congenital abnormalities, alobar holoprosencephaly is visible on all modalities, but in general is identified on antenatal ultrasound (if performed), and best characterised by MRI. 

Ultrasound
  • monoventricle
  • fused thalami
  • absent corpus callosum
  • absent interhemispheric fissue
  • absent cavum septum pellucidum
  • absence of 3rd ventricle
  • middle and anterior cerebral arteries may be replaced by tangled branches of internal carotid and basilar vessels. 
  • severe facial malformations
MRI

The basic structure of the cerebral hemispheres is lost, with variable amounts of residual cortex. Features include 1-2:

Associated craniofacial features may also be present which include:

The fused cortex can take on three basic shapes 2:

  1. pancake: cerebral tissue is confined to the anterior basicranium
  2. cup: cerebral tissue lines variable amounts of the anterior cranium with a dorsal cyst present posteriorly
  3. ball: a complete rim of tissue surrounds the monoventricle without dorsal cyst

This is the most severe type of the holoprosencephaly spectrum and often tends to be fatal in the neonatal period.

  • semilobar holoprosencephaly
    • partial separation into hemispheres
    • rudimentary occipital and temporal horns
  • hydranencephaly
    • thalami are often visible and are not fused
    • not associated with midline facial abnormalities
    • no cortex present, or sometimes small islands of tissue
  • severe hydrocephalus
    • falx usually present, but may be absent due to severe long-standing hydrocephalus 
    • bilateral choroid plexus 
    • thalami not fused
    • not associated with midline facial abnormalities

Malformations of the central nervous system
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Article Information

rID: 10509
Section: Pathology
Tag: cases
Synonyms or Alternate Spellings:
  • Alobar type holoprosencephaly

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