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.
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References
Bonnet C, Roubertie A, Doummar D et al (2010) Developmental and benign movement disorders in childhood. Mov Disord epub June 18, 2010
Bowdin S, Phelan E, Watson R et al (2007) Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–Lopez-Hernandez syndrome. Clin Dysmorphol 16:21–25
Brocks D, Irons M, Sadeghi-Najad A et al (2000) Gomez–Lopez-Hernandez syndrome: expansion of the phenotype. Am J Med Genet 94:405–408
Fernandez-Jaen A, Fernandez-Mayoralas DM, Calleja-Perez B et al (2009) Gomez–Lopez-Hernandez syndrome: two new cases and review of the literature. Pediatr Neurol 40:58–62
Gomez MR (1979) Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. Brain Dev 1:253–256
Gomy I, Heck B, Santos AC et al (2008) Two new Brazilian patients with Gomez–Lopez-Hernandez syndrome: reviewing the expanded phenotype with molecular insights. Am J Med Genet A 146A:649–657
Harris KM, Mahone EM, Singer HS (2008) Nonautistic motor stereotypies: clinical features and longitudinal follow-up. Pediatr Neurol 38:267–272
Hottinger-Blanc PM, Ziegler AL, Deonna T (2002) A special type of head stereotypies in children with developmental (?cerebellar) disorder: description of 8 cases and literature review. Eur J Paediatr Neurol 6:143–152
Kaufman AS, Kaufman LN (2004) Kaufman assessment battery for children: manual. AGS, Circles Pines
Lopez-Hernandez A (1982) Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. Neuropediatrics 13:99–102
Munoz RM, Santos AC, Graziadio C et al (1997) Cerebello-trigeminal-dermal dysplasia (Gomez–Lopez-Hernandez syndrome): description of three new cases and review. Am J Med Genet 72:34–39
Napolitano M, Righini A, Zirpoli S et al (2004) Prenatal magnetic resonance imaging of rhombencephalosynapsis and associated brain anomalies: report of 3 cases. J Comput Assist Tomogr 28:762–765
Pasquier L, Marcorelles P, Loget P et al (2009) Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol 117:185–200
Poretti A, Alber FD, Burki S et al (2009) Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol 13:28–33
Poretti A, Bartholdi D, Gobara S et al (2008) Gomez–Lopez-Hernandez syndrome: an easily missed diagnosis. Eur J Med Genet 51:197–208
Poretti A, Limperopoulos C, Roulet-Perez E et al (2010) Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol 52:718–724
Purvis DJ, Ramirez A, Roberts N et al (2007) Gomez–Lopez-Hernandez syndrome: another consideration in focal congenital alopecia. Br J Dermatol 157:196–198
Schell-Apacik CC, Cohen M, Vojta S et al (2008) Gomez–Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature. Eur J Pediatr 167:123–126
Tan GM, Arnone D, McIntosh AM et al (2009) Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophr Res 115:173–181
Tan TY, McGillivray G, Goergen SK et al (2005) Prenatal magnetic resonance imaging in Gomez–Lopez-Hernandez syndrome and review of the literature. Am J Med Genet A 138:369–373
Tewes U, Rossmann P, Schallberger U (1999) Hamburg-Wechsler-Intelligenztest für Kinder III (HAWIK-III). Hans Huber, Bern
Toelle SP, Yalcinkaya C, Kocer N et al (2002) Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics 33:209–214
Truwit CL, Barkovich AJ, Shanahan R et al (1991) MR imaging of rhombencephalosynapsis: report of three cases and review of the literature. AJNR Am J Neuroradiol 12:957–965
von Aster M, Neubauer A, Horn R (2006) WIE, Wechsler Intelligenztest für Erwachsene. Harcourt Test Services, Frankfurt am Main
Whetsell W, Saigal G, Godinho S (2006) Gomez–Lopez-Hernandez syndrome. Pediatr Radiol 36:552–554
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We thank the families for their cooperation and permission to publish clinical photos.
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Sukhudyan, B., Jaladyan, V., Melikyan, G. et al. Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr 169, 1523–1528 (2010). https://doi.org/10.1007/s00431-010-1259-7
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DOI: https://doi.org/10.1007/s00431-010-1259-7