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.
References
Jan 1, 1979·Brain & Development·M R Gomez
May 1, 1982·Neuropediatrics·A López-Hernández
Sep 19, 1997·American Journal of Medical Genetics·M V Muñoz RJ M Pina-Neto
Oct 26, 2000·American Journal of Medical Genetics·D BrocksP Wheeler
Oct 5, 2002·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Pauline M Z Hottinger-BlancThierry Deonna
Oct 9, 2002·Neuropediatrics·S P ToelleE Boltshauser
Nov 13, 2004·Journal of Computer Assisted Tomography·Marcello NapolitanoFabio Triulzi
Sep 15, 2005·American Journal of Medical Genetics. Part a·Tiong Yang TanSusan M White
Apr 12, 2006·Pediatric Radiology·William WhetsellSavio Godinho
Oct 14, 2006·Zeitschrift für Gerontologie und Geriatrie·M PinquartR K Silbereisen
Dec 13, 2006·Clinical Dysmorphology·Sarah BowdinWilliam Reardon
May 8, 2007·European Journal of Pediatrics·Chayim Can Schell-ApacikHubertus von Voss
May 11, 2007·The British Journal of Dermatology·D J PurvisJ I Harper
Feb 6, 2008·American Journal of Medical Genetics. Part a·Israel GomyJoão M Pina-Neto
Mar 18, 2008·European Journal of Medical Genetics·Andrea PorettiEugen Boltshauser
Mar 25, 2008·Pediatric Neurology·Kendra M HarrisHarvey S Singer
Apr 15, 2008·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Andrea PorettiEugen Boltshauser
Dec 6, 2008·Acta Neuropathologica·Laurent PasquierAnnie Laquerrière
Dec 11, 2008·Pediatric Neurology·Alberto Fernández-JaénNoelia Moreno
Oct 13, 2009·Schizophrenia Research·Giles M TanKlaus P Ebmeier
Oct 30, 2009·Developmental Medicine and Child Neurology·Andrea PorettiEugen Boltshauser
Jun 22, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Cecilia BonnetEmmanuel Roze
Citations
Jan 5, 2013·Pediatric Radiology·Andrea PorettiThierry A G M Huisman
Aug 13, 2011·The Cerebellum·Laura MerliniSylviane Hanquinet
Mar 28, 2012·Brain : a Journal of Neurology·Gisele E IshakDan Doherty
Apr 10, 2014·Case Reports in Medicine·Danilo PesicDusica Lecic Tosevski
Apr 3, 2014·Pediatric Neurology·Vinicius Freitas de MattosPaulo Ricardo Gazzola Zen
Jan 16, 2016·Cerebellum & Ataxias·Jessica L KleinAndrea Poretti
Sep 12, 2012·American Journal of Medical Genetics. Part a·Hannah M TullyWilliam B Dobyns
May 13, 2014·Developmental Medicine and Child Neurology·Andrea PorettiEugen Boltshauser
Dec 7, 2013·American Journal of Medical Genetics. Part a·Ghada M H Abdel-SalamHanan H Afifi
Oct 24, 2014·Neuroradiology·Patrice Jissendi-TchofoAnthony James Barkovich
May 27, 2014·Brain & Development·Yu KobayashiJun Tohyama
Jan 16, 2015·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Thangamadhan BosemaniAndrea Poretti
Jul 18, 2016·Neuroimaging Clinics of North America·Andrea PorettiThierry A G M Huisman
Dec 22, 2016·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Matthias W WagnerThierry A G M Huisman
May 20, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Andrea PorettiDan Doherty
Sep 17, 2014·European Journal of Anaesthesiology·Claude Abdallah
Apr 18, 2020·American Journal of Medical Genetics. Part a·Eduardo PerroneAna Beatriz Alvarez Perez
Mar 31, 2017·Intractable & Rare Diseases Research·Anita ChoudharySadasivan Sitaraman
Dec 24, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kimberly A AldingerDan Doherty
Jun 4, 2011·American Journal of Medical Genetics. Part a·Melissa B RamockiGary D Clark
Mar 20, 2012·European Journal of Ophthalmology·Salvador Pastor-IdoateJosé M Herreras
Sep 6, 2018·Intractable & Rare Diseases Research·Bakur KotetishviliTamar Kopadze
Jan 8, 2013·American Journal of Medical Genetics. Part a·Eric T RushAnn Haskins Olney
Apr 12, 2012·Brain : a Journal of Neurology·Peter G Barth
Jan 1, 2021·American Journal of Medical Genetics. Part a·Eduardo PerroneNara Lygia de Macena Sobreira
Oct 14, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Marie-France BonnetainVincent des Portes
Apr 2, 2021·Neuropediatrics·Janina Gburek-AugustatHans Hartmann
May 9, 2021·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Elka MillerThierry A G M Huisman
Oct 23, 2021·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Jonathan ChaoChirag Gupta