Abstract
Gomez-Lopez-Hernandez syndrome is a very rare genetic disorder with a distinct phenotype (OMIM 601853). To our knowledge there have been seven cases documented to date. We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, mental retardation and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears) consistent with Gomez-Lopez-Hernandez syndrome. In early childhood the patient demonstrated aggressive behavior and raging periods. He also had seizures that were adequately controlled by medication. Magnetic resonance imaging (MRI) revealed rhombencephalosynapsis, i.e., a rare fusion of the cerebellar hemispheres, also consistent with Gomez-Lopez-Hernandez syndrome. In addition a lipoma of the quadrigeminal plate was observed, a feature not previously described in the seven patients reported in the literature. Cytogenetic and subtelomere analyses were inconspicuous. Microarray-based comparative genomic hybridization (array-CGH) testing revealed five aberrations (partial deletions of 1p21.1, 8q24.23, 10q11.2, Xq26.3 and partial duplication of 19p13.2), which, however, have been classified as normal variants. Array-CGH has not been published in the previously reported children. The combination of certain craniofacial features, including partial alopecia, and the presence of rhombencephalosynapsis in the MRI are suggestive of Gomez-Lopez-Hernandez syndrome. Children with this syndrome should undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investingation, psychological testing, management of behavioral problems and genetic counseling.
References
Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P (2000) Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. Am J Med Genet 94:405–408
Chen W, Erdogan F, Ropers H, Lenzner S, Ullmann R (2005) CGHPRO-a comprehensive data analysis tool for array CGH. BMC Bioinformatics 6:85
Database of genomic variants, version Dec 13, 2005 (http://projects.tcag.ca/variation/)
Gomez MR (1979) Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. Brain Dev 4:253–256
Gomez MR (1987) Cerebello-trigemino-dermal dysplasia. In: Gomez MR (ed) Neurocutaneous diseases: a practical approach. Raven Press, New York, pp 145–148
López-Hernández A (1982) Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion
Muñoz RMV, Santos AC, Graziadio C, Pina-Neto JM (1997) Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review. Am J Med Genet 72:34–39, Anomaly (Atresia of the fourth ventrical). Report of two cases. Neuropediatrics 13:99–102
Acknowledgments
We sincerely thank the patient and his family for participation in this study, M. Wetter for performing the chromosome and subtelomere analyses, R. Ullmann and the Max Planck Institute of Molecular Genetics, Berlin, for providing the chip for array-CGH, Wellcome Trust Sanger Centre and BACPAC Resources Centre for providing the BAC clones as well as K. Wagner, M. Bihler and F. Trotier for their technical assistance. This work was supported by the Else Kroener-Fresenius Foundation.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Schell-Apacik, C.C., Cohen, M., Vojta, S. et al. Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature. Eur J Pediatr 167, 123–126 (2008). https://doi.org/10.1007/s00431-007-0478-z
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-007-0478-z