Neuropediatrics 2016; 47 - P06-06
DOI: 10.1055/s-0036-1583677

Rhombencephalosynapsis Leading to an Easily Missed, Underdiagnosed Neurocutaneous Syndrome

K. Storch 1, M. Smitka 1, N. di Donato 2, G. Hahn 3, M. von der Hagen 1, J. Schallner 1
  • 1Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden
  • 2Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden Institut und Poliklinik für Radiologische Diagnostik
  • 3Institut und Poliklnik für Radiologische Diagnostik, Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden

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.