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Anaesthesia and orphan disease

anaesthesia for Gomez–Lopez-Hernandez syndrome

Abdallah, Claude

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European Journal of Anaesthesiology: March 2015 - Volume 32 - Issue 3 - p 218-220
doi: 10.1097/EJA.0000000000000157
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Editor,

Gomez–Lopez-Hernandez (GLH) syndrome is a rare form of cerebellotrigeminal dermal dysplasia, first documented by Gómez1 and reported by López-Hernández.2 It comprises mainly neurological and cutaneous symptoms. Considerations for anaesthesia care are important in order to assess risks and prevent complications.

We describe the case of a two-year-old full-term female child (weight 11.6 kg) referred for sedation for a brain MRI scan. Parenteral consent was obtained for the report of this case. She had a history of motor delay, dysmorphic features, hyperactivity, unusual stereotypic movements of the head and self-injurious behaviour, facial scarring and parieto-occipital alopecia. The indication for MRI scanning was to rule out an optic nerve abnormality secondary to impairment of vision. Examination prior to the MRI scan, including assessment of vital signs, was impossible to obtain due to patient's agitation, even with parents’ presence. Dysmorphic features included mediofacial hypoplasia, downslanting palpebral fissures and short stature. Anaesthetic management plan was to provide sedation with intravenous infusion of propofol and, if needed, general anaesthesia. A GlideScope and equipment for fibreoptic endotracheal intubation were available. The patient refused premedication with oral midazolam and anaesthesia was induced with inhalation of sevoflurane [end tidal 4% in O2/N2O (2/4 l) mixture] in order to obtain intravenous access. A laryngeal mask airway size 2 (LMA Unique; LMA North America, San Diego, California, USA) was placed to resolve upper airway obstruction that persisted despite insertion of an oral airway. Maintenance of spontaneous ventilation was achieved with an intravenous infusion of propofol at 7.2 mg kg−1 h−1, and the procedure was completed uneventfully. Radiology findings (Fig. 1) showed rhomboencephalosynapsis that later confirmed the diagnosis of GLH syndrome.

Fig. 1
Fig. 1:
MRI showing rhombencephalosynapsis with fusion of the cerebellar hemispheres.

Reported cases of GLH syndrome are sporadic and depicted at different ages, from the postnatal period until adulthood. The genetic basis of GLH is not clear. De-novo chromosomal arrangements or spontaneous dominant mutations may represent possible explanations.3 Identification of this syndrome occurs after birth, in retrospect of the findings of rhomboencephalosynapsis, alopecia and trigeminal anaesthesia. Rhombencephalosynapsis, 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. Rhombencephalosynapsis may occur in isolation or in conjunction with VACTER-L or as part of GLH syndrome.3 Anaesthetic considerations include dealing with 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.4 Parietal or parieto-occipital alopecia is often bilateral and may be hidden by surrounding scalp hair. These findings are best evaluated and documented prior to initiation of anaesthesia care. Muscular hypotonia may precipitate upper airway obstruction. Careful evaluation for difficult tracheal intubation secondary to dysmorphic features such as mediofacial hypoplasia/retrusion, brachycephaly and/or turricephaly is needed. Ventriculomegaly and hydrocephalus are common. Baseline mental and intellectual impairment should be assessed to rule out further deterioration after anaesthesia or intracranial hypertension. In summary, the anaesthesiologist caring for a child with GLH syndrome should give special attention to the associated abnormalities, (Table 1), including neurological impairment, probable behavioural problems, a potentially difficult airway and trigeminal anaesthesia.

Table 1
Table 1:
Anaesthesia risk and management of possible abnormalities in a patient with Gomez–Lopez-Hernandez syndrome

Acknowledgements relating to this article

Assistance with the report: none.

Financial support and sponsorship: none.

Conflicts of interest: none.

References

1. Gómez MR. Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. Brain Dev 1979; 1:253–256.
2. López-Hernández A. Craniosynostosis ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. Neuropediatrics 1982; 13:99–102.
3. Poretti A, Bartholdi D, Gobara S, et al. Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. Eur J Med Genet 2008; 51:197–208.
4. Sukhudyan B, Jaladyan V, Melikyan G, et al. Gomez-Lopez-Hernandez syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr 2010; 169:1523–1528.
© 2015 European Society of Anaesthesiology