Lobar holoprosencephaly

Case contributed by Dr Mohammad A. ElBeialy

Presentation

Intellectual disability, abnormal head shape and gait abnormality.

Patient Data

Age: 4 years
Gender: Male
Modality: MRI

Well formed, yet abnormal configuration of the lateral ventricles with deficient anterior horns and absent septum pellucidum as well as disproportionally dilated temporal and occipital horns and bodies of the lateral ventricles (colpocephaly).

Dysgenesis of the corpus callosum with deficient posterior body and splenium. 

Case Discussion

This case demonstrates lobar holoprosencephaly with absent septum pellucidum, colpocephaly and dysgenesis of the corpus callosum.

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Case Information

rID: 27983
Case created: 1st Mar 2014
Last edited: 17th Sep 2015
Inclusion in quiz mode: Included

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