An interesting clinical association of short neck with an unusual laryngeal anomaly.

An elongated high-rising epiglottis can represent a normal variation of the larynx in a majority of pediatric patients. However, there are virtually no reports available for visible or high-rising epiglottis on routine oral examination in adult patients without upper respiratory tract inflammation. We report an unusual case with prominently visible epiglottis on oral examination. We diagnosed him with a rare congenital disorder based on associated physical examination and imaging evidence of short neck, low hair line, Sprengel's anomaly, left digital hypoplasia, restricted neck movements, cervical vertebra fusion, and mirror movements (synkinesia).

INTRODUCTION

As part of a gradual process of descent, the larynx moves from the level of the second and third vertebrae (fetus) to the level of the fourth vertebrae (birth) to the fifth vertebrae at 6 years of age and to the level of the seventh vertebrae by puberty.[1] High positioned larynx is a normal variant of the pediatric larynx and high-rising tubular epiglottis may present with intermittent foreign body sensation in throat in such patients,[2] It is, however, rare to identify such visible or high-rising epiglottis on routine oral examination in adult patients without upper respiratory tract inflammation. The aim of this case report is to describe a rare and unusual clinical association of short neck and high-rising epiglottis in an adult male, who based on additional clinical and imaging evidence, was diagnosed with Klippel-Feil syndrome (KFS).

A 45-year-old male who is a rickshaw puller by occupation presented with complaints of weakness of lower limbs and difficulty walking since 2 years. Patient gave history suggestive of gradually progressive proximal and distal muscle weakness of lower limb and tightness of all four limbs. There was no history of fall or trauma. There was no history of radicular pain. There were no associated sensory and sphincter disturbances. Patient was not diabetic or hypertensive. Patient gave no history of prior systemic illnesses. Physical examination revealed high height-neck ratio (19:1, normal 9:1), webbing of neck, low hair line [Figure 1c], Sprengel's anomaly, left digital hypoplasia [Figure 1b], Restricted neck movements (rotation, flexion and extension), Prominent high-rising epiglottis [Figure 1a] and mirror movements (synkinesia). Patient scored adequately on mini-mental status examination (MMSE) Questionnaire, cranial nerve examination revealed diminished sensation on left half of face, conductive deafness in left ear, dysphonia and bilaterally diminished gag reflex. There were, however, no diplopia, nystagmus, and findings indicative of Horner's syndrome. Fundus examination was normal. Motor system examination revealed bilaterally symmetrical Spastic quadriparesis with increased tone, reduced power (4/5), exaggerated deep tendon reflexes and spastic gait. Plantar response was upgoing 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, however, no vertebral body tenderness. Other system examination revealed no significant findings. Patient was further investigated with plain computed tomography CT and plain magnetic resonance imaging (MRI) of spine and brain which revealed partial fusion of C3-C4 ([Figure 2], black arrow) and C6-C7 vertebra [Figure 3], sharp angulations of spinal cord at foramen-magnum ([Figure 2] white arrow), reduced saggital canal diameter at foramen magnum (15.2 mm, normal- 35 mm) and normal lumbo-sacral vertebrae. Ultrasonogram abdomen and pelvis revealed normal internal organs, 2D echocardiogram was normal and audiometry revealed left-sided mixed type deafness and right-sided mild sensory deafness. Patient was finally diagnosed with Type 2 KFS. Patient refused to give consent for further evaluation for possible neurosurgical management. Patient was conservatively treated with physiotherapy and was later lost to follow-up

Figure 1

(a) Prominent high-rising epiglottis (b) Hypoplasia of left thumb. (c) Webbed neck and low hair line

Figure 2

Plain magnetic resonance imaging T1-weighted saggital view of Brain and cervical spinal column showing narrow saggital diameter of foramen magnum, sharp angulation of spinal cord at cervicomedullary junction (white arrow) and fusion of partial fusion of C3 and C4 vertebrae (Black arrow)

Figure 3

Plain magnetic resonance imaging T2-weighted saggital view of cervical spinal column showing partial fusion of C6 and C7 vertebrae

DISCUSSION

Maurice Klippel and Andre Feil first described the syndrome in 1912, characterized by patients with Feil's Triad (low posterior hair line, short neck, limitation of head and neck movements or decreased range of motion in cervical spine).[3] This classic presentation present in less than 50% of patients with KFS. KFS is characterized by congenital vertebral fusion believed to result from failure of normal segmentation of the cervical vertebrae or somite between 3rd and 8th weeks of fetal development (rather than a secondary fusion).[4] KFS appears to be a heterogeneous disease often associated with craniofacial malformation. KFS has been associated with a broad spectrum of developmental anomalies ranging from mild cosmetic deformity to severe disability.

This syndrome may be associated with other organ system anomalies, skeleton system anomalies like scoliosis, torticollis, digital hypoplasia, Sprengel anomaly (30%), basilar impression, often associated with short neck, neck webbing, low posterior hairline; myelocele, myeloencephalococele, syrgohydromyelia, and Chiari malformation, genitourinary tract anomalies, Craniofacial anomalies like Cleft palate (10%), jaw duplication, micrognathia, otolaryngeal abnormalities including conductive deafness and microtia, bifid uvula, ocular abnormalities, and facial and thyroid asymmetry, cardiovascular anomalies and hindbrain or brain stem anomalies.[5]

Feil classified the syndrome into four classes based on pattern of vertebral fusion Feil's classification:

Type I – massive fusion of many cervical and upper thoracic vertebrae with synostosis

Type II – fusion of only 1 or 2 vertebrae

Type III – presence of lower thoracic and upper lumbar spine anomalies with I/II

Type IV – sacral agenesis

Samartzis DD et al. proposed a new prognostic classification system in 2006 and concluded that, axial neck symptoms were highly associated with Type I patients, whereas predominant radicular and myelopathic symptoms occurred in Type II and Type III patients.[6]

Mirror movements refer to involuntary movements, which occur in a muscle group or limb on one side of the body in response to an intentionally performed movement in the corresponding contralateral muscle group or limb.[7] Mirror movements may be physiological, congenital, or acquired. The exact pathophysiology of this disorder is unknown, but it is most commonly seen in KFS, and can be associated with Kallmann's syndrome, agenesis of the corpus callosum, basilar invagination of the skull, spina bifida occulta, Friedrich's ataxia, Usher's syndrome and hemiplegic cerebral palsy. 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.[8-10]

CONCLUSIONS

The present case report under discussion is remarkable for unusual clinical findings like High-rising epiglottis, multiple cranial nerve palsies and imaging evidence of foramen magnum stenosis, anomalies that are not reported previously in association with KFS.