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

11:44 EDT 22nd August 2014 | BioPortfolio

Summary of "Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria."

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.

Affiliation

Department of Pediatric Neurology, "Arabkir" Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia.

Journal Details

This article was published in the following journal.

Name: European journal of pediatrics
ISSN: 1432-1076
Pages:

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