Skip to main content Accessibility help
  • Print publication year: 2004
  • Online publication date: July 2009

38 - Cerebello-trigemino-dermal dysplasia



The cerebello-trigemino-dermal (CTD) dysplasia (Gómez–López–Hernández syndrome) is an uncommon congenital disorder of the cerebellum, trigeminal nerves, cranial sutures and scalp. Nine patients with this diagnosis have been identified since 1979 (Alonso L. G., personal communication; Brocks et al., 2000; Gómez, 1979; López–Hernández, 1982; Muñoz et al., 1997; Pascual Castroviejo, 1983). There are a few cases in the earlier literature that could correspond to CTD dysplasia. Kayser (1921) reported a boy with bilateral congenital corneal anesthesia and difficulty swallowing and chewing who was unable to stand or walk and who died of pneumonia at the age of 3½years. Pillat (1949) reported a patient with congenital trigeminal anesthesia and symmetrical hypoplasia of the hair and part of the temporal muscles but did not mention ataxia. Gross (1959) reported mental retardation, strabismus, hyperthelorism and turricephaly in two patients with rhombencephalosynapsis (RES).

Since the introduction of magnetic resonance imaging, some patients who could have CTD dysplasia have been reported as RES. Truwit et al. (1991) reported a girl with RES, brachycephaly, midface hypoplasia, long philtrum, high palate, tent-shaped mouth, low set ears, ataxia, motor delay, and corneal clouding related to abnormal corneal sensation. Romanengo et al. (1997) reported mental retardation, gait disturbances, dysarthria, strabismus, long philtrum, thin lips and low-set ears in a 16-year-old boy with RES. Ramaekers et al. (1997) reported 78 patients with cerebellar structural abnormalities; amongst these were 15 patients with vermian changes of whom 7 had genetic disorders and 8 had only a diagnosis of anatomical cerebellar abnormalities, although CTD dysplasia was not considered in the differential diagnosis.

Altman, N. R., Naidich, T. P. & Braffman, B. H. (1992). Posterior fossa malformations. American Journal of Neuroradiology, 13: 691–724
Barkovich A. J. (2000). Congenital malformations of the brain and skull. In Pediatric Neuroimaging, 3rd edn., ed. A. J. Barkovich, pp. 251–381, Philadephia: Lippincott Williams & Wilkins
Brocks, D., Irons, M., Sadeghi-Nadjad, A., McCauley, R. & Wheeler, P. (2000). Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. American Journal of Medical Genetics, 94: 405–408
Gómez, M. R. (1979). Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. Brain Development, 4: 253–256
Gross, H. (1959). Die rhombencephalosynapsis, eine systemisierte kleinhirnfehlbildung. Archives für Psychiatrie und Zeitschrift f. d. ges. Neurologie, 199: 537–552
Kayser, B. (1921). Ein fall von angeborener trigeminuslähmung und angeborenem totalem tränenmangel. Klin Mbl Augenheilkd, 66: 652–654
López–Hernández, 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
Muñoz, M. V. R., Santos, A. C., Graziadio, C. & Pina-Neto, J. M. (1997). Cerebello-trigemino-dermal dysplasia (Gómez–López–Hernández syndrome): description of three new cases and review. American Journal of Medical Genetics, 72: 34–39
Neumann, P. E., Garretson, J. D., Skabardonis, G. P. & Mueller, G. G. (1993). Genetic analysis of cerebellar folial pattern in crosses of C57Bl/6J and DBA/2J inbred mice. Brain Research, 619: 81–88
Obersteiner, H. (1914). Ein Kleinhirn ohne Wurm. Arb Neurol Inst (Wien), 21: 124–136
Orlow, S. J. (1992). Cutaneous findings in craniofacial malformation syndromes. Archives of Dermatology, 128: 1379–1386
Pascual Castroviejo, I. (1983). Displasia cerebelotrigeminal. Neurología Infantil, 1: 680
Pillat, A. (1949). Wiener ophthalmologische gesellschaft epithelschadigung der hornhaut bei angerborener trigeminushypoplasie. Wien Klinische Wochenschrift, 61: 605
Ramaekers, V. Th., Heimann, G., Reul, J., Thron, A. & Jaeken, J. (1997). Genetic disorders and cerebellar structural abnormalities in childhood. Brain, 120: 1739–1751
Romanengo, M., Tortori-Donati, P. & Di Rocco, M. (1997). Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report. Clinical Genetics, 52: 184–186
Savolaine, E. R., Fadell, R. J. & Patel, Y. P. (1991). Isolated rhombencephalosynapsis diagnosed by magnetic resonance imaging. Clinical Imaging, 15: 125–129
Sidman, R. L. & Rakic, P. (1982). Development of the human central nervous system. In Histology and Histopathology of the Nervous System, ed. W. Haymaker & R. D. Adams, pp. 3–145. Springfield, III: Thomas
Simmons, G., Damiano, T. R. & Truwit, C. L. (1993). MRI and clinical findings in rhombencephalosynapsis. Journal of Computer Assisted Tomography, 17: 211–214
Takanashi, J., Sugita, K., Barkovich, A. J., Takano, H. & Kohno, Y. (1999). Partial midline fusion of the cerebellar hemispheres with vertical folia: a new cerebellar malformation? American Journal of Neuroradiology, 20: 1151–1153
Truwit, C. L., Barkovich, A. J., Shanahan, R. & Maroldo, T. V. (1991). MR Imaging of rhombencephalosynapsis: report of three cases and review of the literature. American Journal of Neuroradiology, 12: 957–965
Utsunomiya, H., Takano, K., Ogasawara, T., Hashimoto, T., Fukushima, T. & Okasaki, M. (1998). Rhombencephalosynapsis: cerebellar embryogenesis. American Journal of Neuroradiology, 19: 547–549