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DOI: 10.1055/s-0036-1583677
Rhombencephalosynapsis Leading to an Easily Missed, Underdiagnosed Neurocutaneous Syndrome
Background: Rhombencenphalosynapsis (RES) is a very rare cerebellar malformation with an estimated frequency of 0,13% (1). RES is a constant and essential finding for establishing the diagnosis of Gómez-López-Hernández syndrome (GLHS).
Case Report: We report on a 2-year-old Caucasian female patient, who presented with motoric development disorder, midface hypoplasia, brachycephalia, and parietal alopecia. Cerebellar hypoplasia was already diagnosed in prenatal ultrasound. Fetal magnetic resonance imaging revealed a rhombencephalosynapsis. We diagnosed GLHS, based on the typical triad consisting of RES, trigeminal anesthesia, and partial alopecia.
Conclusion: GLHS [MIM 601853] is a rare, sporadic and probably underdiagnosed neurocutaneous disorder. So far, only 36 pediatric patients have been published. Any patient for whom prenatal cranial magnetic resonance imaging is compatible with rhombencephalosynapsis, needs regular neurological and ophthalmological examinations to confirm GLHS. The pathogenesis of GLHS is unknown; however, genetic, teratogenic, and mixed origins are discussed. Prospectively whole-exome sequencing can detect causal genetic defects.