Since the first patient with cerebello-trigeminal-dermal dysplasia, later called Gomez-Lopez-Hernandez syndrome, was reported in 1979 by Gomez et al, six more cases have been added to the literature. Abnormalities involve the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). A further case is reported in a 19 year-old male seen at Tufts University School of Medicine, Boston, MA. The typical manifestations of the syndrome were present. In addition, some unusual findings include seizures, growth hormone deficiency and short stature, and prominent behavioral and psychiatric problems (hyperactivity, depression, self-injurious behavior, and bipolar disorder). Hyperactivity first noted at 4 years of age was later associated with attention deficit disorder. Chromosomal analysis was normal. [1]

COMMENT. The GLH syndrome is rare, only 8 cases reported. Physical findings that should alert suspicion are a high forehead with turricephaly, hypertelorism, narrowed palpebral fissures, temporal balding, posteriorly rotated ears, long fingers with Dupuytren contracture, and short stature. Corneal opacities may develop over time because of trigeminal anesthesia and corneal insensitivity. Head banging and head rocking, and other self-injurious behavior may occur as a result of pain insensitivity. Psychiatric problems may lead to increased risk of suicide. MRI is preferable to CT in demonstration of the cerebellar anomaly. Rhombencephalosynapsis consists of fusion of the cerebellar hemispheres and absence of the cerebellar vermis. In Greenfield’s Neuropathology text (London, Arnold, 1958;p335), aplasia of the cerebellum, due to failure of the two alar plates of the rhombencephalon to unite in the formation of the corpus cerebelli, is called palaeocerebellar aplasia (cerebellar rachischisis). Various nuclear atrophies are also associated, including the inferior olives and dentate nuclei.