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2019-09-08  Case of the week # 505  © Lech Dudarewicz

Answer to the case of the week # 505
September 26 - October 10

Case report
A mother with a known genetic condition was sent to our unit at 15 weeks of pregnancy.
Following images show skin lesions related to the genetic disease of the mother, and ultrasound findings of the fetus.
The fetus was a female and the genetic disease has a X linked dominant inheritance.
What is this uncommon diagnosis?
It is incontinentia pigmenti. As a X-linked dominant disease, affected female fetuses (as this one) have milder symptoms, because they have another copy of X chromosome bearing the wild-type (normal) allele, and they exhibit mainly skin and ectodermal anomalies, and sometimes CNS lesions (as in this case).
Male fetuses, whose only allele is mutated, die in utero at the end of the first trimester showing sign of hydrops.

Image 1: the mother with incontinentia pigmenti, diagnosed previously on the basis of the characteristic skin lesions.

Video 1: posterior cephalocele, seemingly isolated, in the female fetus.

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