Moebius, syndrome
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Sporadic; some familial cases. Syndrome of oromandibular and limb hypoplasia, the minimum diagnostic element of which is the presence of unilateral facial nerve (VII) paralysis. It is likely a sequela of an in utero ischemic accident at the level of the brainstem (picture of brainstem hypoplasia in severe cases).
Clinical presentation:
- paralysis of the cranial nerves (VI, total or partial VII and also sometimes of V,IX,X and XII): immobile facies, lagophthalmos, disorders of swallowing with ineffective cough, convergent squint, small oropharyngeal cavity, cleft palate, small tongue
- normal intelligence or intellectual deficit of variable severity (laborious speech)
. sometimes: micrognathia, deafness, clubfeet, syndactyly, rudimentary fingers, pyramidal signs.
- occasionally associated with a congenital heart disease.
Some cases called "atypical Moebius" or "complete ophthalmoplegia, "facial weakness" and malignant hyperthermia " [MIM 255 320] present with total ophthalmoplegia and weakness of the facial muscles, and very discrete signs of myopathy (non-specific biopsy, sometimes multiminicores): they are due to a mutation of the RYR1 gene and are therefore at risk of malignant hyperthermia.
Anesthetic implications:
significant risk of perioperative inhalation: pre- and postoperative physiotherapy. Frequent inhalation pneumonia: hyperreactivity of the airways. Echocardiography. Ventilation abnormalities: apnea or episodes of tachypnea. Difficult intubation (often predictable on clinical examination). A case of probable malignant hyperthermia has been described after administration of sevoflurane and succinylcholine (no biopsy nor genetic tests): incidental association ?
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Updated: December 2022