Prenatal diagnosis of Gomez-Lopez-Hernandez syndrome

Introduction: Gomez-Lopez-Hernandez Syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia is an extremely rare neuro-cutaneous disease, classically described by the triad of rhombencephalosynapsis (RES), bilateral focal alopecia and trigeminal anesthesia. The clinical and radiographic spectrum of GLHS is now known to be broader, including craniofacial and supra-tentorial anomalies, as well as neurodevelopmental issues. Case presentation: Here, we present a case of antenatally diagnosed GLHS with RES, hydrocephaly and craniofacial anomalies identified on ultrasound (low-set ears with posterior rotation, hypertelorism, midface hypoplasia, micrognathia and anteverted nares) which were confirmed by autopsy after termination of pregnancy at 23 weeks gestation. Discussion: As no known genetic causes have been identified and the classical triad is not applicable to prenatal imaging, prenatal diagnosis of GLHS is based on neuro-imaging and the identification of supporting features. In presence of a RES associated with cranio-facial abnormalities in prenatal (brachycephaly, turricephaly, low-set ears, midface retrusion, micrognathia), GLHS should be considered as "possible" according to postnatal criteria.