Abstract
Objective First description of association of Colpocephaly with CRS
A 46 y/o female with Congenital Rubella Syndrome (CRS) presented, post head-strike, with imaging showing a remote prenatal right parietal infarct, and colpocephaly. She exhibited a smaller, spastic, right upper limb, bilateral congenital deafness. Cognitively, she had worsening behavioural and memory issues recently.
CRS was first flagged by Australian ophthalmologist Norman Gregg (1941). With effective vaccination, Rubella cases in Australia fell markedly, from 4,000 to less than 40 per year (92% now immune). CRS cases concomitantly fell from 300 to around 1 per year; to women born overseas (AusInstHealthWelfare). CRS outcomes reflect virus interaction s with the neurodevelopment epoch: early infection results in high embryo-fetal wastage. If contracted after week 20, little deficit results as neurogenesis, path-finding migration and synaptogenesis have progressed.
Brain involvement may result in mixtures of grey and white matter disease and infarction leading to blindness, deafness, intellectual impairment, shortened limbs. The virus may persist for decades. Neurodevelopment involves many simultaneous processes, in many different parts of the neuraxis that have delimited time-lines – both for immediate and consequential outcomes: these colour the final clinical picture. Other organ involvement includes cardiac outlet pathology.
Conclusion Colpocephaly (Ventriculomegaly of the posterior horns of the lateral ventricles) has not previously been a reported association. It’s rarity, variation when it is noted, and associated lesions, have conspired to mean only case reports are available and no definitive study of neurologic dysfunction is available.
