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Chiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature

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Abstract

Background

Chiari malformation type III (CM III), a rare hindbrain anomaly, often presents with various concurrent anomalies. This paper reports a unique case of CM III associated with Klippel-Feil syndrome (KFS), a condition previously unreported in Saudi Arabia and documented in only one other case globally in Turkey. This study aims to share insights into the unusual association between CM III and KFS, considering their close embryological development and involvement in the craniocervical junction.

Methodology

The study presents a case of a 2.5-year-old female diagnosed with CM III and KFS. Diagnostic tools such as ultrasound, CT scans, MRI, and physical examinations were used to confirm the patient’s condition. Surgical interventions, including decompression and encephalocele repair, were performed.

Results

Successful surgical interventions, including encephalocele repair and duraplasty, were carried out. Follow-up visits indicated a stable condition, marked improvement in lower limb strength, and the patient’s ability to walk with assistance. CT follow-up affirmed a satisfactory surgical outcome.

Conclusion

This case study illustrates the potential for an optimistic prognosis in CM III, even when accompanied by complex conditions such as KFS, through early diagnosis and intervention. It underscores the significance of antenatal screening for effective care planning and calls for further research and publications due to the rarity of this association. These findings contribute to our understanding of CM III and its related conditions, emphasizing the need for open-minded consideration of potential embryological associations.

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Author information

Authors and Affiliations

  1. Department of Neurosurgery, King Fahad General Hospital, Jeddah, Saudi Arabia

    Mshari H. Althomali

  2. Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

    Omar I. Aljohani

  3. Department of Surgery, Division of Neurosurgery, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

    Abdulrahman J. Sabbagh

  4. Research and Development Unit, Clinical Skill and Simulation Center, King Abdulaziz University, Jeddah, Saudi Arabia

    Abdulrahman J. Sabbagh

Authors
  1. Mshari H. Althomali
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  2. Omar I. Aljohani
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  3. Abdulrahman J. Sabbagh
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Contributions

Mshari Althomali: Contributed to the conceptualization and design of the study, collected data, analyzed results, and wrote the manuscript. Omar I. Aljohani: Assisted in data collection, contributed to the literature review, and participated in manuscript writing and approval. Abdulrahman J. Sabbagh: Served as the primary investigator, performed the surgical interventions, conceptualized the study, contributed to data interpretation, supervised the project, participated in manuscript writing, and approved the manuscript for publication.

Corresponding author

Correspondence to Abdulrahman J. Sabbagh.

Ethics declarations

Ethics approval and consent to participate

This study, involving a human participant, adhered to the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments. The research was approved by the appropriate institutional research ethics committee. Additionally, written informed consent, inclusive of photographs and all associated data, was fully obtained from the patients parents for the purposes of publication and education.

Conflict of interest

The authors declare no potential conflicts of interest, both financial and non-financial, in relation to this paper.

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Althomali, M.H., Aljohani, O.I. & Sabbagh, A.J. Chiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature. Childs Nerv Syst 40, 581–586 (2024). https://doi.org/10.1007/s00381-023-06198-3

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