Alobar holoprosenencephaly

Case contributed by Dr Arthur Daire

Presentation

Enlarged head and hydrocephalus suspected clinically.

Patient Data

Age: 2 months
Gender: Male
MRI

There is absence of normal midline structures and most of the parietal and posterior cortex. Small frontal cortex is present, with no evidence of midline fissure.

The thalami are fused and a large monoventricle and a larger dorsal cyst are present. Cerebellum and brainstem appear within normal limits

Case Discussion

The imaging findings (which were also suspected on the antenatal ultrasound) are typical of alobar holoprosencephaly.

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Case information

rID: 31017
Published: 16th Sep 2014
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included