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Joseph Junewick, MD FACR
over 7 years ago
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ARSt Case Repository

Holoprosencephaly

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 8 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

Child with developmental delay.


Case Images


Diagnosis

Holoprosencephaly

Findings

MR – Fusion of anterior lateral ventricles and frontal lobes with absent septum pellucidum and dysgenetic corpus callosum.

Discussion

Holoprosencephaly represents a complex congenital neurofacial malformation related to a lack of normal transverse cleavage of the forebrain. The abnormality may be inherited as an autosomal dominant familiam defect or sporadic mutation but also likely has environmental influences.

Clinical expression is variable. Hypotelorism and midline facial clefts may occur. Syndromic associations include trisomy 13 and 18. Holoprosencephaly is arbitrarily classified as lobar, semilobar and alobar forms.

The olfactory bulbs and septum pellucidum are absent and the sylvian fissures are poorly formed in all forms. Alobar holoprosencephaly show a large cresent shaped monoventricle which is often associated with a dorsal cyst, fused thalami with resultant absence of the 3rd ventricle, small or absent falx cerebri, and absent interhemispheric fissure. Semilobar holoprosencephaly shows better cerebral development with some formation of the falx cerebri and interhemispheric fissure, and partial thalamic separation and 3rd ventricle formation. Lobar holoprosencephaly shows recognizable temporal lobes and rudimentary sylvian fissures, partial formation of the corpus callosum, and better deliniated falx cerebri and interhemispheric fissure.

Reference

Joglar JM and Rollins NK. Midface anomalies in children. Radiographics (2000); 20:907-922.

Albayram, et al. Holoprosencephaly in children: Diffusion tensor and MR imaging of white matter tracts of the brainstem – initial experience. Radiol (2002); 223:645-651.



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