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| Year : 2012 | Volume
: 58
| Issue : 3 | Page : 212-213 |
A rare clinical association of high rising epiglottis and short neck
R Pinninti, E Thirulogachandar, KHN Ameen
Department of General Medicine, Government Stanley Hospital, Chennai, Tamil Nadu, India
| Date of Web Publication | 26-Sep-2012 |
Correspondence Address:
R Pinninti
Department of General Medicine, Government Stanley Hospital, Chennai, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0022-3859.101406
How to cite this article:
Pinninti R, Thirulogachandar E, Ameen K. A rare clinical association of high rising epiglottis and short neck. J Postgrad Med 2012;58:212-3 |
A45-year-old male presented with complaints of weakness of lower limbs and difficulty walking since two years. Patient gave history of gradually progressive proximal and distal muscle weakness of lower limb and tightness of all four limbs. Physical examination revealed high height-neck ratio (19:1, normal 9:1), webbing of neck, low hairline [Figure 1]c,Sprengel's anomaly, left digital hypoplasia [Figure 1]b, restricted neck movements, prominent high-rising epiglottis [Figure 1]a and mirror movements. Patient scored adequately on Mini-mental status examination Questionnaire, cranial nerve examination revealed diminished sensation on the left half of the face, conductive deafness in left ear, dysphonia, and bilaterally diminished gag reflex. Motor system examination revealed bilaterally symmetrical spastic quadriparesis. Plantar response was up-going bilaterally. Left-sided mild cerebellar dysfunction was present. Sensory system examination revealed normal pain, temperature and diminished joint position sense in all four limbs. Romberg's sign was positive. There was loss of vibratory sense in all four limbs and along the vertebrae. There was no vertebral body tenderness. Plain computed tomography (CT) and magnetic resonance imaging (MRI) of spine and brain revealed partial fusion of C3-C4 [[Figure 2], black arrow] and C6-C7 vertebra [Figure 3], sharp angulations of the spinal cord at the foramen-magnum [[Figure 2] white arrow], and reduced saggital diameter at the foramen magnum (16.2 mm, normal- 35 mm). Ultrasonogram abdomen and echocardiogram were normal. Audiometry revealed left side mixed type deafness and right side mild sensory deafness. Patient was diagnosed with Type 2 Klippel-Feil syndrome More Details (KFS). Patient refused to give consent for further evaluation and was later lost to follow-up. | Figure 1: a) Prominent high-rising epiglottis; b) Hypoplasia of left thumb; c) Short webbed neck and low hairline
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 | Figure 2: Plain MRI T1-weighted saggital view of brain and cervical spinal column showing narrow saggital diameter of the foramen magnum, sharp angulation of spinal cord at the cervico-medullary junction (white arrow) and partial fusion of C3 and C4 vertebrae (black arrow)
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 | Figure 3: Plain MRI T2-weighted saggital view of cervical spinal column showing partial fusion of C6 and C7 vertebrae
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Maurice Klippel and Andre Feil first described the syndrome in 1912, characterized by patients with Feil's Triad (low posterior hairline, short neck, limitation of head and neck movements or decreased range of motion in cervical spine). KFS is characterized by congenital vertebral fusion resulting from faulty segmentation of the somites from the segmental plates between the third and seventh week of development. Somites segment from the rostral end of each plate in an orderly rostrocaudal sequence. Therefore, complete fusion of vertebral bodies with a more rostral/cervical position has been considered indicative of an earlier segmental error of somitogenesis. The morphological deformation of vertebral and otolaryngeal structures could all be linked to faulty segmental development in axial structures of the embryo. Raymond et al., in their report of a KFS family noted that a paracentric inversion on 8q always segregates with vertebral fusions, indicating a location for a KFS gene (SGM1) at one of the breakpoints of the inverted segment. [1]
In addition to Feil's triad, KFS may be associated with anomalies like neck webbing, myelocele, myeloencephalococele, syrgohydromyelia, scoliosis, torticollis, digital hypoplasia, Sprengel's anomaly, basilar impression, and craniofacial, otolaryngeal, ocular, cardiovascular, and hindbrain anomalies. [1]
Some authorities believe that persons with the KFS usually have associated spinal canal stenosis, and, hence, an increased likelihood to develop spinal cord injury even after minor trauma. [2],[3]
KFS is considered as one of the congenital causes of difficult airway management. Short neck, varied otolaryngeal anomalies and possibility of cervical instability point to the risk of difficult intubation and neurological damages. [4] An elongated high-rising epiglottis can represent a normal variation of the larynx in a majority of pediatric patients. [5] However, in association with KFS, high-rising epiglottis could have important implications for anesthetic management.
| :: References | |  |
| 1. | Clarke RA, Singh S, Mc Kenzie H, Kearsley JH, Yip MY. Familial Klippel-Feil syndrome and paracentric inversion inv (8) (q22.2q23.3). Am J Hum Genet 1995;57:1364-70. 
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| 2. | Vaidyanathan S, Hughes PL, Soni BM, Singh G, Sett P. Klippel-Feil syndrome -the risk of cervical spinal cord injury: A case report. BMC Fam Pract 2002;3:6.
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| 3. | Matsumoto K, Wakahara K, Sumi H, Shimizu K. Central cord syndrome in patients with Klippel-Feil syndrome resulting from winter sports: Report of 3 cases. Am J Sports Med 2006;34:1685-9.
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| 4. | Goñi-Zaballa M, Pérez-Ferrer A, Charco-Mora P. Difficult airway in a pediatric patient with Klippel-Feil syndrome and an unexpected lingual tonsil. Minerva Anestesiol 2012;782:254-7.
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| 5. | Petkar N, Georgalas C, Bhattacharyya A. High-rising epiglottis in children: Should it cause concern? J Am Board Fam Med 2007;20:495-6.
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[Figure 1], [Figure 2], [Figure 3]
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