Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria

• Published in: American journal of medical genetics. Part A 2013-02, Vol.161A (2), p.320-326
• Main Authors: Rush, Eric T., Adam, Margaret P., Clark, Robin D., Curry, Cynthia, Hartmann, Julianne E., Dobyns, William B., Olney, Ann Haskins
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - diagnosis; alopecia; Alopecia - diagnosis; cerebello-trigeminal-dermal dysplasia; Cerebellum - abnormalities; Child; Child, Preschool; Corneal Diseases - diagnosis; Craniofacial Abnormalities - diagnosis; craniosynostosis; Female; Gomez-Lopez-Hernandez; Growth Disorders - diagnosis; Humans; Hypesthesia - diagnosis; Male; Neurocutaneous Syndromes - diagnosis; Phenotype; Rhombencephalon; rhombencephalosynapsis; trigeminal anesthesia
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35817

Gomez–Lopez‐Hernandez syndrome (GLHS) is a rare neurocutaneous disorder. We are aware of thirty previously reported cases. We present four additional patients with this condition. Previously reported patients have shown the hallmark triad of rhombocephalosynapsis, trigeminal anesthesia, and bilateral parietal or parieto‐occipital alopecia. Rhombencephalosynapsis consists of agenesis of the cerebellar vermis, fusion of the cerebellar hemispheres, and the dentate nuclei. The gene or genes responsible for GLHS remain unknown. Alopecia is seen in all previously reported cases of GLHS. Additional craniofacial findings such as low‐set and posteriorly rotated ears, midface retrusion, craniosynostosis, and brachyturricephaly are also very common in this syndrome. Trigeminal anesthesia, reported in the original three patients, is seen in just over half of reported patients. Most patients with GLHS have motor delays, intellectual disability, and hypotonia. Unusual stereotypic movements of the head are seen in many patients with GLHS. Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common. We propose that rhombencephalosynapsis and scalp alopecia are necessary, but by themselves not sufficient, for a diagnosis of GLHS. Additional findings of trigeminal anesthesia or one of two major craniofacial findings (brachycephaly and/or turricephaly or midface retrusion) are sufficient to make a diagnosis of GLHS. Additional categories of probable and possible GLHS are proposed for patients whose examination may be compatible with a diagnosis of GLHS, but CNS imaging has not yet been obtained. © 2013 Wiley Periodicals, Inc.