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OrphanAnesthesia
C. Abdallah

Gomez-Lopez-Hernandez syndrome

Gomez-Lopez-Hernandez syndrome

Schlüsselwörter Gomez-Lopez-Hernandez syndrome (OMIM 601853); ICD 10: Q07.8; Cerebello-trigeminal dermal dysplasia
Keywords Gomez-Lopez-Hernandez syndrome (OMIM 601853); ICD 10: Q07.8; Cerebello-trigeminal dermal dysplasia
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Summary

Gomez-Lopez-Hernandez (GLH) syndrome is a rare form of cerebello-trigeminal dermal dysplasia, first documented by Gómez and reported by López-Hernández. It comprises mainly neurological, dysmorphic and cutaneous symptoms. The genetic basis of this sporadic disorder GLH is not yet clear. De novo chromosomal arrangements or spontaneous dominant mutations may represent possible explanations. Identification of this syndrome is possible after birth, in view of rhombencephalosynapsis, alopecia and trigeminal anaesthesia. Rhombencephalosynapsis (RES), a rare hindbrain malformation, manifesting as a fusion of the cerebellar hemispheres, the dentate nuclei and the superior cerebellar peduncles, is associated with agenesis/hypogenesis of the vermis. RES may occur in isolation or in conjunction with VACTER-L or as part of Gomez-Lopez-Hernandez syndrome. Anaesthesia considerations include dealing with intellectual, psychiatric and behavioural problems such as hyperactivity, depression, self-injurious behaviour and bipolar disorder. Different degrees of trigeminal anaesthesia leading to recurrent corneal and facial scarring have been described. Parietal or parieto-occipital alopecia is usually bilateral, may be hidden by surrounding scalp hair. These findings are best evaluated and documented prior to initiation of anaesthesia care.

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