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.