Gomez-Lopez-Hernandez syndrome: An easily missed diagnosis

Andrea Poretti, Deborah Bartholdi, Sonja Gobara, Fabienne Dietrich Alber, Eugen Boltshauser

Research output: Contribution to journalArticle

Abstract

Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so far, all sporadic. We report four further patients with GLHS: one neonate, two children and a middle aged man. In all cases the diagnosis was made only in retrospect; one child died as neonate due to esophageal atresia. All patients presented RS and parietal alopecia, three intermittent head stereotypies, two had obvious trigeminal anesthesia, and one normal cognition. Alopecia and also trigeminal anesthesia can be very mild and can be easily missed. However, the dysmorphic signs including bilateral alopecia are already present in the neonatal period and are highly suggestive of GLHS. RS should be looked for in this situation. It is important to mention that neuroimaging does not allow distinguishing between isolated RS and GLHS. If RS is diagnosed the clinical signs of GLHS should be sought. The diagnosis of GLHS can only be made by the combination of the typical dysmorphic signs and neuroimaging in the neonatal period, but not prenatally.

Original languageEnglish (US)
Pages (from-to)197-208
Number of pages12
JournalEuropean Journal of Medical Genetics
Volume51
Issue number3
DOIs
StatePublished - May 1 2008

Keywords

  • Cerebello-trigeminal-dermal dysplasia
  • Cognitive function
  • Esophageal atresia
  • Neurogenic bladder
  • Parietal scalp alopecia
  • Rhombencephalosynapsis
  • Trigeminal anesthesia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Gomez-Lopez-Hernandez syndrome: An easily missed diagnosis'. Together they form a unique fingerprint.

  • Cite this

    Poretti, A., Bartholdi, D., Gobara, S., Alber, F. D., & Boltshauser, E. (2008). Gomez-Lopez-Hernandez syndrome: An easily missed diagnosis. European Journal of Medical Genetics, 51(3), 197-208. https://doi.org/10.1016/j.ejmg.2008.01.004