Dysfonction de la commande centrale dans le syndrome de Wolfram : à propos d’un cas de sevrage ventilatoire difficile

Abstract

Wolfram syndrome is a rare autosomal recessivegenetic disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. A neurodegenerative syndrome is usually associated, including cerebellar ataxia. A few cases of central apnea have been reported in the literature. Here, we report a case of Wolframsyndrome with respiratory symptoms that led to the discovery of central apneas as well as complicated and delayed weaning in an intensive care unit (ICU). The patient is a 39-year-old woman diagnosed with Wolframsyndrome who was admitted to an ICU for septic shock. She experienced difficult weaning before central apneas were observed while spontaneous ventilation was being attempted. After two extubation failures, cerebral MRI was performed and revealed parenchymatous atrophy of the posterior brain fossa involving the cerebral trunk, cerebellar peduncles, as well as both cerebellum hemispheres and the cerebellar vermis. Even after the patient was tracheotomized, central apneas persisted when the patient breathed spontaneously with her tracheotomy, necessitating nocturnal ventilation. While central apneas Wolfram syndrome remain rare, they should be systematically investigated due to their association with severe morbimortality.