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Year : 2016  |  Volume : 2  |  Issue : 1  |  Page : 48-50

Generalized spastic dystonic cerebral palsy with regression of motor milestones due to congenital atlantoaxial dislocation: A diagnostic dilemma and rare association

Department of Neurosurgery, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India

Date of Web Publication10-Aug-2016

Correspondence Address:
Aniruddh Kumar Purohit
Department of Neurosurgery, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad - 500 018, Telangana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2395-4264.188163

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In spastic cerebral palsy cervical dystonia with congenital AAD is a rare association. The combination of these and regression of milestones produces clinical dilemma. We present a case of generalized spastic dystonic cerebral palsy with AAD. The child had regression of the milestones following a trivial fall due to compression at the cervicomedullary junction. One has to differentiate the regression of milestones caused by untreatable herditary or treatable mechanical etiologies. This might make significant difference in management, prognosis and may have financial implications.

Keywords: Atlantoaxial dislocation, regression of milestones, spastic dystonic cerebral palsy

How to cite this article:
Pelluru PK, Purohit AK. Generalized spastic dystonic cerebral palsy with regression of motor milestones due to congenital atlantoaxial dislocation: A diagnostic dilemma and rare association. Indian J Cereb Palsy 2016;2:48-50

How to cite this URL:
Pelluru PK, Purohit AK. Generalized spastic dystonic cerebral palsy with regression of motor milestones due to congenital atlantoaxial dislocation: A diagnostic dilemma and rare association. Indian J Cereb Palsy [serial online] 2016 [cited 2018 Jan 24];2:48-50. Available from: http://www.ijcpjournal.org/text.asp?2016/2/1/48/188163

  Introduction Top

In spastic cerebral palsy, cervical dystonia and congenital Atlanto - axial disclocation AAD is a rare association. The combination of these and the regression of milestones produce clinical dilemma. Lack of knowledge about such a clinical condition may unnecessarily delay the management and may financially burden the family with expensive genetic investigations.

  Case report Top

A 14 year old male, 4 th sibling, product of consanguineous parentage delivered by normal vaginal delivery, had delayed birth cry. The birth weight was normal. There was delay in developmental milestones. He attained walking with support at 18 months. Parents have noticed abnormal movements of neck, trunk and limbs along with tightness in the both the lower limbs. He used to walk with heel off the all the time with occasional tripping episodes. Seven months back he fell while getting down from a bus, following which he developed paraesthesias involving all the limbs associated with clumsiness of both the upper limbs. Parents had noticed worsening of abnormal movements of the neck and difficulty in walking since that time. There was gradual worsening of power in all the limbs. He was able to sit with support only. On examination he had uncontrolled sustained twisting movements of the neck and trunk with involuntary movements of the lips. He also had dysarthria, spasticity (MAS grade II in all the limbs), the power was 2/5 in the shoulder and 4/5 in the elbow and wrist, 4/5 in the lower limbs, sustained ankle clonus and terminal contractures of the ankle plantar flexors bilaterally with extensor plantars. There were decreased sensations for pin prick and light touch from C2 dermatome downwards.

On dynamic X - ray of the cranioverterbral junction (CVJ) there was increased atlanto dental interval. On MRI of CVJ there was compression at the cranioverterbral junction with obliteration of the CSF column. Hyper intensity was seen within the cord. There was thickened transverse ligament along with osodontoideum. On CT scan of the CVJ there was orthotopic type of osodontoideum with reducible rotatory atlantoaxial dislocation [Figure 1].

The child was initially asked to apply Philadelphia collar, later, 10 days prior to the surgery, 100 U of botulinum toxin was given in the two heads of sternocleidomastoid muscle in divided doses, following which the dystonic movements had decreased significantly.
Figure 1: (a) (a1 flexion, a2 extension) - lateral dynamic radiograph of craniovertebral junction showing reducible atlantoaxial dislocation (indicated by white arrow). (b) magnetic resonance imaging of craniovertebral junction showing compression with signal intensity change at cervicomedullary junction, (c) computed tomography scan of craniovertebral junction showing orthotopic type of os odontoideum with anterior displacement of the C1 arch. (d) Postoperative lateral craniovertebral junction radiograph showing C1/C2 fixation

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C1 lateral mass and C2 pedicle screw fixation was performed. The C1/C2 joint spaces were thoroughly curetted bilaterally, and the bone chips were filled in these spaces.

Postoperatively, spasticity reduced significantly, but cervical dystonia reappeared slightly, then, he was started on trihexyphenidyl. Power in both the upper and lower limbs improved as compared to the preoperative status at 1-month follow-up.

  Discussion Top

In cerebral palsy association of atlanto axial dislocation (AAD) with dystonia is rare. [1] Comparatively the dystonic involvement of neck is more frequently associated with early degenerative changes like premature cervical spondylosis and cervical myeloradiculopathy rather than AAD. [2],[3],[4] When an individual presents with a combination of dystonia and spasticity with regression of milestones this may suggest an underlying neurodegenerative or genetic cause. However, rarely congenital anomaly like AAD should also be considered in the differential diagnosis. [5]

In the present report, the child presented with regression of motor milestones in the form of weakness of all the limbs with a background history of perinatal insult, repeated falls in past and one more recently. The child had delayed motor milestones along with occasional uncontrolled sustained twisting movements of the neck and trunk suggestive of dystonic type of cerebral palsy. The absence of other features, such as cognitive decline, vision impairment and seizures along with the findings of compressive myelopathy (AAD) and a normal brain MRI excluded the diagnosis of some genetic and degenerative disorders. The challenge in the management of this case was the diagnosis of co existing dystonia and reducible AAD; both have to be treated simultaneously to prevent further neurological deterioration and to avoid dystonic muscular contractions (which usually worsened post operatively due to nociceptive stimuli of the surgical dissection. Otherwise the fixation may fail and the wound may give way following C1/C2 fixation.

To conclude, one should be able to differentiate the cause of regression of milestones due to hereditary causes. However, musculoskeletal disorders such as congenital AAD, precipitated by falls should also be excluded. A simple dynamic CVJ screening radiograph to exclude any instability before going for expensive genetic screening may suffice to establish the cause of regression. This will help in prompt diagnosis and would avoid financial burden on the family.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Al-Jishi A, Sreekantaswamy. Dystonia associated with atlantoaxial subluxation. Clin Neurol Neurosurg 2000;102:233-5.  Back to cited text no. 1
Polk JL, Maragos VA, Nicholas JJ. Cervical spondylotic myeloradiculopathy in dystonia. Arch Phys Med Rehabil 1992;73:389-92.  Back to cited text no. 2
Waterston JA, Swash M, Watkins ES. Idiopathic dystonia and cervical spondylotic myelopathy. J Neurol Neurosurg Psychiatry 1989;52:1424-6.  Back to cited text no. 3
Levine RA, Rosenbaum AE, Waltz JM, Scheinberg LC. Cervical spondylosis and dyskinesias. Neurology 1970;20:1194-9.  Back to cited text no. 4
Lyon G, Kolodny EH, Pastores GM. Neurology of Hereditary Metabolic Disorders. 3 rd ed. New York: McGraw-Hill; 2006. p. 243-392.  Back to cited text no. 5


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