|Year : 2008 | Volume
| Issue : 2 | Page : 163-165
Ehler Danlos syndrome with cervical dislocation: An unusual case
Neeraj Awasthy, Karam Chand
Departments of Pediatrics and Neurosurgery, Safdarjung Hospital, Maulana Azad Medical College, LNJP Hospital, Delhi-110 029, India
123, Anand Kunj, Vikas Puri, New Delhi-110 018
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Ehler-Danlos syndrome (EDS) is heritable connective tissue disorders with varied manifestations whose primary clinical features include soft, hyperextensible skin, dystrophic scarring, easy bruising, and joint hypermobility. Os odontoideum describes a condition in which the dens is separated from the axis body. The exact frequency is unknown. Known cases are either incidentally detected or are diagnosed when patients become symptomatic. Cervical dislocation has been described with type VI lesions but no association with Os odontoideum was found in the English literature. We describe a case of 5-year-old boy a case of Ehler Danlos syndrome presenting with features of cervical dislocation due to Os odontoideum.
Keywords: Cervical dislocation, Ehler-Danlos syndrome
|How to cite this article:|
Awasthy N, Chand K. Ehler Danlos syndrome with cervical dislocation: An unusual case. J Pediatr Neurosci 2008;3:163-5
| Introduction|| |
Ehler-Danlos syndrome (EDS) is a diverse group of heritable connective tissue disorders whose primary clinical features include soft, hyperextensible skin, dystrophic scarring, easy bruising, and joint hypermobility. It was first described by Van Meekeren in 1682, and clarified by Ehler in 1901 and Danlos in 1908.  Although cervical dislocation has been described with type VI lesions no association with Os Odontoideum was found in the English literature. We describe a case of 5-year-old boy, a case of EDS presenting with features of cervical dislocation due to Os odontoideum .
| Case Report|| |
A 5-year-old young boy presented with sudden onset quadriparesis after excessive neck flexion while playing. There was history of similar episodes in the past getting relived on there own over hours to days with no treatment taken for the same. Patient has history of easy brusibility since birth. There was no history of altered sensorium, fever, or contact with a tuberculous patient. Family history showed him to be the only male siblings amongst the four other children, with no family history of similar disorder. On examination, patient was conscious with stable vitals. Child had abnormal facies with lax skin over the body. There was the presence of bruise marks in different phases of healing over the body. There was no cranial nerve deficit. Neurologic examination was suggestive of upper motor neuron type of Quadriparesis grade 3/5. Tone was increased in all the limbs with exaggerated deep tendon reflexes and bilateral extensor plantars.
There was no sensory loss. Computed tomography (CT) scan of the patient revealed the presence of Os odontoideum in the position of the normal dens tip which was seen to be separate from the clivus suggestive of orthotropic variety. The lower part of the dens process of axis was displaced posteriorly leading to canal compression, there was associated anterior rachischisis of the Atlas More Details [Figure 1]. All the biochemical parameters of the patient were within normal limits.
Echocardiography and ocular examination of the child were normal. The patient underwent a C1-2 fusion. He made a remarkable recovery over next few days. At discharge, his both lower limbs power was 4+/5. A 2-weeks follow-up of the child showed no neurologic deficit, who was playful, active, and walking child with a healthy stitch line.
| Discussion|| |
EDS is a diverse group of heritable connective tissue disorders whose primary clinical features include soft, hyperextensible skin, dystrophic scarring, easy bruising, and joint hypermobility. Although cervical dislocation has been described with type VI lesions no association with Os odontoideum was found in the English literature. , Os odontoideum describes a condition in which the dens is separated from the axis body. The exact frequency is unknown. Known cases are either incidentally detected or are diagnosed when patients become symptomatic. No large-scale screening studies have been performed. Some studies have shown an increased frequency of Os odontoideum in patients with Morquio syndrome, multiple epiphyseal dysplasia, and/or Down syndrome. ,, The association of these lesions has not been reported with EDS. These lesions are clinically important because the mobile or insufficient dens render the transverse atlantal ligament (TAL) incompetent. Without a functional dens-TAL complex, translation of the atlas on the axis is not effectively restrained. With increased motion, upper cervical cord or vertebral artery impingement may occur. Based on the position of the dens tip, two types of Os odontoideum are described: In an orthotopic Os odontoideum, the dens is in anatomic position.  A dystopic Os odontoideum is present when the dens is in any other position. Most commonly, the fragment is located near the foramen magnum, where it may fuse with the clivus. Alternatively, the Os may be fixed to the anterior ring of the atlas. Subluxation and instability are described in both types of Os odontoideum. In some patients, the secondary ligamentous restraints become lax over time, resulting in instability. When the instability has been longstanding, it becomes multidirectional. , Thus, although uncommonly reported the possibility of their association with collagen diseases such as EDS remains high as in our case.
EDS type V represents a syndrome complex of the rare group of Ehler-Danlos disorders characterized by X-linked recessive mode of inheritance.
Os odontoideum often is incidentally detected after screening or after evaluating a patient following trauma. Os odontoideum may be clinically silent unlike our case and radiographic findings may only suggest the diagnosis. Some patients present with symptoms, including local mechanical neck pain neurologic symptoms, in some patients with mechanical neck pain, Os odontoideum may be detected on radiographs. However, in many cases, it is difficult to determine with certainty that the Os odontoideum is the true cause of these symptoms, which include neck pain, torticollis, and headache. In patients with cervical instability from Os odontoideum, neurologic symptoms may develop. , These neurologic symptoms often are limited to one transitory episode of diffuse paresis following trauma as was observed in our case. In other patients, a progressive myelopathy is noted. In these patients, weakness and ataxia usually predominate over sensory changes. Os odontoideum may lead to neurovascular symptoms if its associated instability causes vertebral artery compression. In turn, this compression causes cervical and brainstem ischemia with an often-bewildering array of signs and symptoms. Early symptoms include gait ataxia, syncope, vertigo, and visual disturbances. Later, cerebellar and brainstem infarcts, and seizures may occur. Sudden death is rare but can occur. The age of onset is variable, between the first and sixth decades of life. However, radiological evaluation of individuals with suspected Os odontoideum is mandatory. Initial evaluation includes open-mouth anterior-posterior and flexion-extension lateral radiographs. The two major goals of the radiological evaluation are to help the physician confirm the diagnosis and to help estimate the degree of instability. 
Os odontoideum appears as a round or oval ossicle with a smooth uniform cortex separated from the base of the axis by a wide gap. The ossicle border does not directly match up with the axis body. The wide gap separating the Os and the axis proper should lie above the level of the superior articular facetsh increased awareness of Os odontoideum, age at diagnosis is declining.
Treatment for Os odontoideum is variable, depending on the patient's symptoms and the clinician's perception of spinal instability. Indications for surgery include: Significant motion on plain radiography, Neurologic or neurovascular involvement, and Persistent and disabling pain despite appropriate nonoperative management.  Some authors report resolution of symptoms following transient paresis and recommend continued nonoperative management. ,, Others operatively stabilize any patient reporting neurologic symptoms. Surgery is contraindicated in patients who are not expected to benefit from stabilization. In a series of patients without spinal cord symptoms, no difference in outcome existed between those treated with surgical fusion and those treated medically. In patients with progressive neurologic deterioration, few reasonable alternatives to fusion exist. However, in smaller children, safer stabilization may require waiting until they are aged 6-7 years.
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