Dandy-Walker variant with cystic hygroma (Turner's syndrome)
Presentation:
Antenatal scan at 20 weeks
Patient Data:
Hypoplastic vermis is seen with relatively large cisterna magna communicating with dilated 4th ventricle. A large septated cystic hygroma is also seen.
Case Discussion:
This is debatable whether Dandy-Walker variant/syndrome should be considered at 19-20 weeks, because, usually vermis develops only after 18 weeks. Considering 20 weeks, it was assumed that vermis should have developed by this time. Typical 'key-hole' appearance with cisterna magna communicating with dilated 4th ventricle is seen. Dandy-Walker variant should be favoured as diagnosis.
Dandy-Walker continuum usually encompasses occipital encephalocele. Cystic hygromas are usually not associated with Dandy-Walker malformation and has independent pathophysiology. In this particular case, fetus had subcutaneous edema and appeared to resemble early fetal hydrops. Cystic hygromas are associated with fetal hydrops.
Fetal echo (not included here) was also done by fetal medicine experts, who found a ventricular septal defect and relatively stunted limb growth.
Planned abortion was carried out, and cystic hygroma with edematous fetus was found. However, Dandy-Walker variant confirmation could not be done.
Amniocentesis results showed it to be Turner's syndrome. Septations in cystic hygroma are common in Turner's syndrome.
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