Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.
Gómez-López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients. The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia. Our patients had rhombencephalosynapsis and alopecia, but none had trigeminal dysfunction. In this respect, the term cerebellotrigeminal dermal dysplasia is potentially misleading. In conclusion, only rhombencephalosynapsis and alopecia are consistently present in GLHS and are required diagnostic criteria, while trigeminal anesthesia, dysmorphic features, and ataxia are inconsistent findings. A high index of suspicion is required to diagnose GLHS, particularly as alopecia tends to be hidden by surrounding scalp hair.
Sukhudyan
Biayna
B
Department of Pediatric Neurology, Arabkir Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia.
Jaladyan
Varsine
V
Melikyan
Gayane
G
Schlump
Jan Ulrich
JU
Boltshauser
Eugen
E
Poretti
Andrea
A
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D000293:Adolescent; D000505:Alopecia / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D006130:Growth Disorders / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020752:Neurocutaneous Syndromes / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D012249:Rhombencephalon / Q000002:abnormalities / Q000473:pathology* / Q000503:physiopathology; D055815:Young Adult