LETTER TO THE EDITOR

Extremely Large Amount of Fused Segments in a Rare Case of Klippel-Feil Syndrome

Sir, Klippel-Feil Syndrome (KFS) is a complex, congenital condition, originally described by Maurice Klippel and Andre Feil in 1912.1 It is characterized by congenital fusion of two or more cervical vertebrae. Because of the abnormal fusion process and altered spinal biomechanics with undue motion at the non-fused cervical segment, adjacent to fused segments, such individuals are predisposed to abnormal cervical spine degeneration that could lead to canal stenosis at the level of a non-fused cervical segment, resulting later in undesirable instability and potential injury to neural elements.2,3 We present a rare case of multiple vertebrae fusions of cervical segment, thoracic segment and lumbar segment with multiple level vertebral canal stenosis in a patient with KFS. A 28-year male presented with bilateral hypoesthesia of the areas below the neck, gait disturbance, and Figure 1: (A,B) Dynamic X-ray of the spine demonstrating scoliosis and lordosis of the spine. weakness in bilateral lower extremities developed (C) CT image of the cervical spine. A, Sagittal image demonstrating multiple gradually over a two-month period. The patient was born congenital fusions of C3-T1,T2-T5, T6-T7, T9-T10, loss of cervical lordosis and thoracic kyphosis. with thoracic deformity that remained untreated due to (D) Sagittal T2-weighted MRI demonstrating multiple fusions and loss of the lack of obvious symptoms in daily life activities. normal disc height of C3-T1, T2-T5, T6-T7, T9-T10, T11-L1 and L2-L3 levels, canal stenosis at C2-C3 and T1-T2 levels, high signal intensities adjacent to There was no history of trauma preceding development C2-C3 and T1-T2 levels. of these symptoms. The patient showed typical triad of a very short neck, a low occipital hairline and reduced bilateral lower extremities muscle strength were neck movement. His physical examination showed unchanged. The patient was followed-up for 36 months. bilateral hypoesthesia of the areas below the neck, Visual Analogue Scale Score was 0 point and Japanese bilateral lower extremities muscle strength decreased, Orthopaedic Association Scores for assessment of and were regarded as IV grade by manual muscle test. cervical myelopathy was 15 points at the 9th post- He had an unsteady gait. Visual Analogue Scale Score operative month. Three-dimensional reconstruction CT was 3 point and Japanese Orthopaedic Association demonstrated a large number of bone which had notable Scores for assessment of cervical myelopathy was grown in the bone graft area at that time. 8 points. This case is very rare and interesting because it demonstrated a large amount of fusion of C3-T1, T2-T5, Dynamic X-ray of the spine demonstrated lordosis of the T6-T7, T9-T10, T11-L1 and L2-L3 levels and a great spine (Figure 1A and 1B). Computed tomography (CT) range of fused segments including cervical segments, demonstrated multiple level fusions of C3-T1, T2-T5, thoracic segments, and lumbar segments. The amount T6-T7, T9-T10, loss of cervical lordosis and thoracic of fused segments was extremely large, which was kyphosis (Figure 1C). Magnetic resonance imaging never seen in KFS patients reported earlier. In a case of (MRI) showed multiple fusions and loss of normal disc this complexity, educational value increased still further height of C3-T1, T2-T5, T6-T7, T9-T10, T11-L1 and because the fused segments were far apart from each L2-L3 levels, canal stenosis at C2-C3 and T1-T2 levels other and in such a great number. Multiple studies (Figure 1D). demonstrated that KFS patients possess altered spinal Surgical canal decompression and intervertebral biomechanics and motion. When multiple segments autologous bone graft at the level of C2-C3 and T1-T2 were fused, the adjacent normal levels might become was successful. The patient reported a complete hypermobile and were exposed to significantly disappearance of hypoesthesia of both sides while increased stresses. The resultant degenerative changes

724 Journal of the College of Physicians and Surgeons Pakistan 2016, Vol. 26 (8): 724-725 Letter to the editor led to potential neurologic compromise.4,5 This case 4. Kruse RA, Cambron JA. Large C4/5 spondylotic disc bulge represented several typical adjacent non-fused levels resulting in spinal stenosis and myelomalacia in a Klippel-Feil disease including canal stenosis at C2-C3 and T1-T2 patient. J Altern Complement Med 2012, 18:96-9. levels due to altered spinal biomechanics as the fusions 5. Helgeson MD, Bevevino AJ, Hilibrand AS. Update on the of C3-T1 and T2-T5 resulted in increase stress at evidence for adjacent segment degeneration and disease. adjacent levels. Spine J 2013; 3:342-51.

REFERENCES Rong Xing1,2 and Qingquan Kong1 1. Klippel M, Feil A. Un cas d'absence des vertebres cervicales. 1 Department of Orthopaedic Surgery, West China Hospital, Avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale). Nouv Iconog Salpetriere 1912; West China Medical School, Sichuan University, Chengdu, 25:223-50. China. 2 Department of Orthopaedic Surgery, Zhongshan Hospital, 2. Serdiuk AA, Bosek V. An adult patient with Klippel-Feil Fudan University, 136 Yixueyuan Road, Shanghai, China. syndrome presenting for repeat operation: A cautionary tale of the Glide scope. J Clin Anesth 2012, 24:238-41. Correspondence: Dr. Qingquan Kong, Department of Orthopaedic Surgery, West China Hospital, West China Medical School, 3. Guille J, Miller A, Bowen R, Forlin, E, Caro PA. The natural history of Klippel-Feil syndrome: Clinical roentgenographic, Sichuan University, Chengdu, China. and magnetic resonance imaging findings at adulthood. E-mail: [email protected] J Pediatr Orthop 1995; 15:617-26. Received: January 27, 2015; Accepted: April 15, 2016.

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