Presentation
Preterm delivery at 35 weeks, birth weight of 2.6kg. Apgar scores of 5/6/8. Admitted to nursery with suspected perinatal hypoxia, not cooled. Dysmorphic clinically: Low set ears, hypertelorism, smooth philtre, thin upper lip and micrognathia.
Patient Data
Corpus callous evident anteriorly, poor visualization of the splenium. Otherwise normal cranial ultrasound.
Wide spacing of the occipital horns of the lateral ventricles (partial racing car sign), suggestive of dysgenesis of the splenium of the corpus callosum.
Widening of the subarachnoid spaces anteriorly.
Case Discussion
The most common craniofacial abnormality associated with corpus callosum dysgenesis is hypertelorism.
Isolated corpus callosum dysgenesis can be asymptomatic, but other associations and underlying abnormalities should be actively sought for management and prognostication. Associations include aneuploidy syndromes; non-aneuploidy syndromes (e.g. fatal alcohol syndrome); other structural brain abnormalities; and inborn errors of metabolism.
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