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A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome: A Case Report from Karachi, Pakistan | ||
| Archives of Razi Institute | ||
| مقالات آماده انتشار، پذیرفته شده، انتشار آنلاین از تاریخ 03 تیر 1402 | ||
| نوع مقاله: Case Study | ||
| شناسه دیجیتال (DOI): 10.22092/ari.2023.361858.2695 | ||
| نویسندگان | ||
| Fatima Siddiqui1؛ Muhammad Talal Ashraf2؛ Muhammad Khuzzaim Khan* 2؛ Bushra Admani2؛ Stafford Jude Sam2؛ Maham Imran3؛ Marya Hameed1 | ||
| 1Department of Radiology, National Institute of Child Health, Karachi, Pakistan. | ||
| 2Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan. | ||
| 3Department of Internal Medicine, Jinnah Postgraduate Medical Centre, Karachi, Pakistan. | ||
| چکیده | ||
| Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading to the fusion of two or more cervical vertebrae. The syndrome presents with diverse symptoms, including limited neck movement, chronic pain, and neurological manifestations such as limb numbness or weakness. The severity of KFS can vary significantly, and treatment primarily focuses on symptom management and preventing complications such as scoliosis or spinal cord compression. Surgical interventions are often necessary for patients with complex forms of the syndrome. Interestingly, Chiari 1 malformation, a cranial anomaly affecting the brainstem, can coincide anatomically with KFS. In this case report, we present the case of a 9-year-old patient who sought medical attention due to persistent, unchanging neck pain. The patient's medical history was notable for developmental delays and cervical restraint observed during the physical examination. Magnetic resonance imaging (MRI) findings revealed hydrocephalus and brainstem descent, indicating the presence of Chiari 1 malformation. Comprehensive MRI and CT scans were performed, and a management plan was formulated, primarily involving cranial surgery and physiotherapy. Implementation of the treatment approach resulted in significant improvement in the patient's symptoms. This case highlights the significance of considering Chiari 1 malformation as a potential comorbidity in patients diagnosed with Klippel-Feil Syndrome who present with persistent neck pain. Early detection and appropriate management of both conditions are crucial for achieving favorable outcomes and enhancing the quality of life for affected individuals. Understanding the complex interplay between KFS and Chiari 1 malformation is essential for providing comprehensive care and tailored treatment strategies. Further research is warranted to elucidate the underlying mechanisms linking these two conditions and to explore optimal management approaches for patients with dual pathology. By reporting this case, we contribute to the existing literature and increase awareness among healthcare professionals regarding the potential coexistence of KFS and Chiari 1 malformation. Continued efforts in identifying associated anomalies and optimizing therapeutic interventions will aid in improving patient outcomes and ensuring optimal care for individuals affected by these conditions. | ||
| کلیدواژه‌ها | ||
| Klippel-Feil Syndrome؛ brainstem descent؛ cervical spine abnormalities؛ Chiari 1 malformation | ||
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آمار تعداد مشاهده مقاله: 95 |
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