C-MAVEM · Chiari malformations and vertebral and spinal cord malformations, and syringomyelia

The Neurosurgery is certified as a Centre of Expertise for the management of Chiari malformations, rare vertebral and spinal cord malformations and syringomyelia for the greater western region.

The Rare Disease Competence Center aims to provide care and follow-up for patients as close as possible to their homes. Indeed, the CCMR participates in diagnosis and implements treatment when available, and organizes patient care in conjunction with the Rare Disease Reference Center (C-MAVEM) and all identified stakeholders involved in local care. The competence center follows the existing recommendations and protocols of its reference center.

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Pathologies

Chiari malformation

The term " Chiari malformations " encompasses a heterogeneous group of malformations of the occipito-cervical junction characterized by a descent of the cerebellar tonsils through the foramen magnum.

Among these malformations, Chiari malformation type I (CMI) is characterized by a descent of the tonsils greater than or equal to 5 mm, most often related to a decrease in the volume of the posterior fossa (Speer et al., 2003). These malformations are the main cause of syringomyelia, that is, the progressive development of an intramedullary fluid-filled cavity.

Chiari II malformations are characterized by a descent of the cerebellar vermis, the fourth ventricle, and the medulla oblongata, and are most often associated with myelomeningocele and hydrocephalus; they are discovered prenatally or at birth. Other types of Chiari malformations (types III, IV, and O) have been described but remain rare (Speer et al., 2003).

Syringomyelia

Syringomyelia characterized by the presence of cavities (syrinx) containing cerebrospinal fluid (CSF) within the spinal cord. The onset of syringomyelia may be related to a known cause (secondary syringomyelia) or, more rarely, occur without any identifiable cause (primary syringomyelia) . The prevalence is estimated at 8.4 per 100,000. Cases of familial syringomyelia with autosomal recessive inheritance have been described, with an estimated incidence of 2% of all syringomyelia cases. Therefore, the vast majority of syringomyelia cases are not genetic.

Spinal cord malformations (Dysraphisms, Spina Bifida)

The term "Spina Bifida" formerly used is gradually being replaced by "dysraphism," which encompasses all forms of this pathology, from the most minimal to the most extensive.

Dysraphism is linked to incomplete development of the vertebral column leading to a dorsal (posterior) of the vertebrae, which is associated with a more or less pronounced involvement of the spinal cord.

Open dysraphisms, or "spina bifida aperta", without skin coverage (e.g., myelomeningocele, myelocele) , are distinguished from closed dysraphisms, or "spina bifida occulta", in which the malformation is covered (e.g., lipoma of the conus medullaris, dermal sinus, etc.).

Dysraphisms are most often located in the lumbar or sacral part of the spine, over 2 to 3 vertebrae, but can also sometimes affect the thoracic or cervical part.

Spina Bifida · Dysraphisms