Gómez-López-Hernández syndrome: Reappraisal of the diagnostic criteria

Biayna Sukhudyan, Varsine Jaladyan, Gayane Melikyan, Jan Ulrich Schlump, Eugen Boltshauser, Andrea Poretti

Research output: Contribution to journalArticlepeer-review

Abstract

Gómez-López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients. The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia. Our patients had rhombencephalosynapsis and alopecia, but none had trigeminal dysfunction. In this respect, the term cerebellotrigeminal dermal dysplasia is potentially misleading. In conclusion, only rhombencephalosynapsis and alopecia are consistently present in GLHS and are required diagnostic criteria, while trigeminal anesthesia, dysmorphic features, and ataxia are inconsistent findings. A high index of suspicion is required to diagnose GLHS, particularly as alopecia tends to be hidden by surrounding scalp hair.

Original languageEnglish (US)
Pages (from-to)1523-1528
Number of pages6
JournalEuropean Journal of Pediatrics
Volume169
Issue number12
DOIs
StatePublished - Dec 2010

Keywords

  • Alopecia
  • Ataxia
  • Gómez-López-Hernández syndrome
  • Rhombencephalosynapsis
  • Trigeminal anesthesia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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