Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature

• Published in: Pediatric neurology Vol. 40; no. 1; pp. 58 - 62
• Main Authors: Fernández-Jaén, Alberto, MD, Fernández-Mayoralas, Daniel Martín, MD, Calleja-Pérez, Beatriz, MD, Muñoz-Jareño, Nuria, MD, Moreno, Noelia, MD
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 2009; Elsevier
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - pathology; Abnormalities, Multiple - physiopathology; Alopecia - pathology; Apraxias - pathology; Apraxias - physiopathology; Biological and medical sciences; Cerebellum - pathology; Child; Fourth Ventricle - pathology; Humans; Infant; Intellectual Disability - pathology; Intellectual Disability - physiopathology; Magnetic Resonance Imaging; Male; Medical sciences; Neurology; Pediatrics; Rhombencephalon - pathology; Syndrome; Tumors of the nervous system. Phacomatoses; Nervous system diseases
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2008.10.001

Gomez–Lopez-Hernandez syndrome, or cerebellotrigeminal-dermal dysplasia, is a rare neurocutaneous syndrome of trigeminal anesthesia, scalp alopecia and cerebellar anomalies. Other features include craniosynostosis, short stature, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly. There have been 19 cases documented to date and we report on two additional male patients, 1 and 6 years of age, with typical features, mild mental retardation and dyspraxia. In both cases, MRI findings included rhombencephalosynapsis, a constant neuroimaging feature in this syndrome, comprising fusion of the cerebellar hemispheres with agenesis of the cerebellar vermis. Based on literature and our experience, we propose the presence of trigeminal anesthesia and/or partial alopecia of the scalp to complete the diagnosis of the syndrome.