[MIM 601 853]

(cerebellotrigeminal dermal dysplasia)

Very rare, sporadic. Classically characterised by the triad:

-         rhombencephalosynapsis: absence of cerebellar vermis  the hemispheres of which are fused in the midline; fusion of the superior cerebellar peduncles; ataxia, a ventriculomegaly and hydrocephalus can be observed

-          uni- or bilateral parietal or parieto-occipital focal alopecia

-         anesthesia in the territory of the trigeminal nrve (sometimes absent), especially at the level of the ophthalmic branch, resulting in corneal damage and opacity

May also be present:

-         a craniofacial dysmorphism: brachy-turricephalia without craniosynostosis

-         hypoplasia of the malar and maxillary bones (which more or less severe prognathism)

-         stereotyped movements: signs of head 'no' or 'yes' eye movements or movements of shoulder to shoulder making the sign ∞

-         hypertelorism with ptosis, strabismus

-         low-located and backslanting ears 

-         a short stature.

There is usually some cognitive delay but cases with normal intelligence are described. Sometimes epilepsy.

Anesthetic implications: 

management of a child with seizures; eye protection; intubation ?

References:

-         Sukhugyan B, Jaladyan V, Melikyan G, Schlump JU, Bolthauser E, Poretti A. 
Gomez-Lopez-Hernandez syndrome : reappraisal of the diagnostic criteria. 
Eur J Pediatr 2010 ; 169 : 1523-8.

-         Abdallah C. 
Anaesthesia for orphan disease: anaesthesia for Gomez-Lopez-Hernandez syndrome. 
Eur J Anaesthesiol 2015; 32:218-220

Updated: April 2019