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

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

In: European Journal of Pediatrics, 2010, vol. 169, no. 12, p. 1523-1528

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    Titre
    • Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria
    Auteur
    • Sukhudyan, Biayna. Department of Pediatric Neurology, "Arabkir” Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia
    • Jaladyan, Varsine. Department of Pediatric Neurology, "Arabkir” Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia
    • Melikyan, Gayane. Division of Neurology and Epileptology, "Erebouni” Medical Center, Yerevan, Armenia
    • Schlump, Jan. Department of Pediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    • Boltshauser, Eugen. Department of Pediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    • Poretti, Andrea. Department of Pediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • European Journal of Pediatrics, 2010, vol. 169, no. 12, p. 1523-1528. Springer-Verlag
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:314900
    Summary
    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