Pseudoachondroplasia associated with os odontoideum and retro-odontoid mass: case-based update.

Autor: Cuthbert HJ; Department of Neurosurgery, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK. hadleigh.cuthbert@nhs.net., Cuthbert RC; Department of Orthopaedic Surgery, Royal London Hospital, London, E1 1FR, UK., Elmaghraby M; Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Afshari FT; Department of Neurosurgery, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK., Solanki GA; Department of Neurosurgery, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK.
Jazyk: angličtina
Zdroj: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Nov 28; Vol. 41 (1), pp. 9. Date of Electronic Publication: 2024 Nov 28.
DOI: 10.1007/s00381-024-06679-z
Abstrakt: Purpose: Pseudoachondroplasia is a rare skeletal dysplasia caused by a mutation in the COMP gene. Infants with pseudoachondroplasia present with rhizomelic dwarfism. Pseudoachondroplasia can resemble achondroplasia, which also presents with a phenotype of rhizomelic dwarfism. The differentiation between these two conditions is important because while both can present with cervicomedullary compromise, the underlying pathophysiology and its management is entirely different.
Results: We present a case of a 13-year-old female patient with pseudoachondroplasia who presented with cervical myelopathy and imaging evidence of atlantoaxial instability with an os odontoideum and a retro-odontoid cystic soft tissue mass, causing C1-2 canal stenosis and cervical cord compression. She underwent C1 decompression and C1-2 posterior cervical fixation. Post-operative imaging demonstrated improved alignment of the os odontoideum, and complete resolution of the retro-odontoid soft tissue mass. We contend that retro-odontoid masses are a marker of local C1-2 joint instability and restoration of atlanto-axial alignment with posterior fixation and fusion alone is likely to be sufficient for regression of the mass and associated compression.
Conclusion: Pseudoachondroplasia can present with atlantoaxial instability and cervicomedullary compromise and with retro-odontoid masses. The differentiation from achondroplasia is crucially important for surgical decision-making and management should include surgical decompression and fixation.
Competing Interests: Declarations. Competing Interests: The authors declare no competing interests.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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