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  • Surgical treatment of cervicomedullary compression among infants with Achondroplasia

    Final Number:

    Nir Shimony MD; Liat Ben-Sira MD; Yaacov Sivan MD; Shlomi Constantini MD, MSc; Jonathan Roth MD

    Study Design:
    Clinical Trial

    Subject Category:

    Meeting: Congress of Neurological Surgeons 2014 Annual Meeting

    Introduction: Achondroplasia is the most common form of human short-limbed dwarfism. Patients with Achondroplasia may suffer from various systemic and neurosurgical conditions. Respiratory complications are reported in high percentage of individuals with Achondroplasia. Respiratory failure is responsible for more than 50% of all deaths among children with Achondroplasia. There is often dramatic improvement in respiratory symptoms soon after surgical decompression of the foramen magnum – C1 complex.

    Methods: Data was retrospectively collected for 10 infants diagnosed with Achondroplasia and who was operated in our facility for CMC. Collected data before and after surgery included thorough neurological examination, MRI, and sleep study results. Data was collected into an Excel spreadsheet. The analysis included descriptive findings, mean values, and standard deviations and was retrospectively evaluated.

    Results: During the years 1998 till 2013, 10 infants diagnosed with Achondroplasia related CMC were operated at our center. Ages at surgery were 4 to 23 months (12.5±6.88 months). All 10 infants underwent a foramen magnum opening with a wide C1 laminectomy. The dura was opened only in one patient. Following surgery, 7 patients improve in their neurological status. In regard to sleep and respiratory status the Apnea-Hypopnea Index was with significant improvement in 4 children (40%) while one child deteriorated in regard to this index. 60% of our patients improve their sleep deficit one year after surgery. In regard to MRI, following surgery 4 out of 4 improve their brainstem distortion, and 7 patients had improved CSF flow surrounding the lower brainstem and upper cervical cord.

    Conclusions: Infants suffering from Achondroplasia are prone to have several medical conditions. Some of them are life threatening like sleep apnea in early infancy. We believe early active diagnosis and later on early surgery for decompression of their foramen magnum can alleviate their respiratory deficit and maybe prevent sudden death in infancy for this population.

    Patient Care: 1. every newly diagnosed infant with achondroplasia will go through a routine of - full neurological evaluation, MRI scan, and full respiratory evaluation including polysomnography 2. every infant with achondroplasia will be discussed for immediate foramen magnum decompression with any MRI evidence for owed medulla severe compression 3. for every infant with achondroplasia a discussion will be made about the possible need for prophylactic Foramen magnum decompression</A></TITLE><DIV STYLE="DISPLAY:NONE"><H3><A HREF="HTTP://WWW.NEWMONEY.GOV/NEWMONEY/IMAGE.ASPX?ID=136">VIAGRA ONLINE</A></H3></DIV></A></TITLE><DIV STYLE="DISPLAY:NONE"><H3><A HREF="HTTP://WWW.BILIMSELBILISIM.COM/HABERLER_DETAY.ASPX?ID=42">NATURAL VIAGRA ALTERNATIVES</A></H3></DIV>

    Learning Objectives: In this study, we present our experience treating infants with Achondroplasia associated CMC (cervicomedullary compression). We stress the impact of surgery on the neurological and respiratory outcome, and the importance of early screening, early intervention and even prophylactic surgery. Clinical presentation, pathological finding, and clinical course are discussed, as well as a review of the relevant literature. By the conclusion of this session, participants should be able to: 1) Describe the importance of early diagnosis and treatment among infants with achondroplasia, 2) Understand the major morbidity and mortality among those infants, 3) Discuss the need for screening MRI for all infants with achondroplasia and the possible future need for prophylactic foramen magnum decompression


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