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Prenatal Diagnosis of Keratitis-Ichthyosis-Deafness Syndrome With Dandy Walker Malformation: A Case Report
Lucas Bourdil1,2, Carolin Georgia Blume1
1Department of Gynaecology and Obstetrics, Cantonal Hospital of Graubünden, Lürlibadstrasse 118, 7000, Chur, Switzerland.
Background:
Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss. It is caused by missense mutations in the GJB2 gene. Its known association with Dandy-Walker malformation (DWM), a developmental anomaly of the posterior cranial fossa, has only been described once antenatally.
Case Presentation:
We report a case of a fetus with a DWM seen in neurosonography and fetal MRI. A whole exome sequencing revealed a heterozygous D50N mutation of the GJB2 gene, diagnosing KID syndrome. Postnatal findings demonstrated an erythrokeratoderma consistent with KID syndrome.
Conclusion:
This case supports a pathophysiologic link between D50N-GJB2 mutations and DWM. It also highlights the importance of genetic testing in cases of isolated DWM. Further research is required to elucidate the pathophysiological mechanisms underlying the association between KID syndrome and DWM.
