Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature.
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.
Fernández-Jaén
Alberto
A
Department of Pediatric Neurology. La Zarzuela Hospital, Madrid, Spain. aferjaen@telefonica.net
Fernández-Mayoralas
Daniel Martín
DM
Calleja-Pérez
Beatriz
B
Muñoz-Jareño
Nuria
N
Moreno
Noelia
N
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D000505:Alopecia / Q000473:pathology; D001072:Apraxias / Q000473:pathology / Q000503:physiopathology*; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D020546:Fourth Ventricle / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D012249:Rhombencephalon / Q000473:pathology*; D013577:Syndrome