Cystic hygroma is highly correlated with adverse perinatal outcome. Prenatal diagnosis and invasive procedures are vital for counselling with close follow-up after delivery for appropriate medical support. A multidisciplinary approach is strictly recommended in live-born children.
We report the case of a male fetus with tuberous sclerosis complex (TSC), in whom multiple cardiac rhabdomyomas and renal angiomyolipomas were detected at 33 weeks by ultrasound with additional brain lesions detected on MRI, all confirmed after birth. DNA analysis of the TSC2 gene detected a de novo mutation in the TSC2 gene. Postnatal follow-up and neurological examination were normal, as were the results of Holter monitoring.
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