Abstract:-Wereport a rare case of congenital cervical anomaly in a 32 yr old female, whowas referred in our department for the complaints of chronic cervical andshoulder pain with a hard cervical mass.
Antero-posterior and lateral radiographs of the cervical spine wereperformed, which show a rib like bony projection, in the left side of neck andon the lateral radiograph, it was corresponding to a hypertrophied C6 spinousprocess. CT study was done for better delineation of this congenital anomaly,which showed hypertrophied left lamina of C6 and spinous process, crossingmidline and towards the left side, extending inferiorly up to the level ofthoracic inlet. There was associatedfusion of C2 and C3 vertebrae, resulting in block vertebra (Klippel- Feilsyndrome Type1) and unfused spinous process of C6 vertebra.This case report is the first case,where hypertrophied lamina and spinous process of C6 with unfused spinousprocesses and block vertebra, congenital cervical anomalies were seen in thesame patient. KEYWORDS: Cervical Spine; congenitalabnormalities; Computed Tomography; Vertebral schisisIntroduction:- Congenital abnormalities ofcervical spine are not so rare. Some of the relatively common developmentaldisorders which specifically affect the cervical spine include platyspondyly,vertebral body fusion, persisting apophysis of the transverse process,hypoplasia etc2.
Avariety of pathologies like Morquio’s syndrome, Spondyloepiphyseal dysplasia,Diastrophic dwarfism, Osteogenesis imperfecta, Klippel feil syndrome areassociated with abnormalities of the cervical spine 4. These congenitalabnormalities are often seen incidentally on radiologic studies and are rarelyassociated with clinical symptoms. We present a very rare congenital spinalanomaly- Severe hyperplasia of unilaterallamina and spinous process of C6 vertebrae associated with schisis defect and blockvertebra at the level of C2-C3 level. This is an extremely rare congenitalanomaly which has not been described often in the literature.
Since the case isvery rare and has not ever been reported in the Indian region prompted us to presentthe case. Casereport:A 32 yr old female was referred for evaluationof a hard cervical mass and chronic cervical pain. On examination , a hard, nonmobile mass was localized to the posterior neck without any overlying rednessor tenderness. The neck movements were normal without any restriction.Radiographs of the cervical spine wasdone, in AP and lateral projections, which revealed an elongated bony protrusion arising from theC6vertebra. Partial fusion of the body of the C3 and C4 vertebrae was seen.
CT scan of the patient was performed tofurther evaluate the patient which revealed unilateral hypertrophy of the leftspinous process of C6 vertebra with unfused posterior process at the samelevel. Partial fusion of the C3-C4 vertebral bodies was also seen.MRI was performed to rule out any other intraspinalanomalies, Chiari malformation, diastematomyelia, or other spinal cordmalformations, however no such anomalies were detected on MRI. Mildhyperintense signal was seen within the soft tissue surrounding the boneyoutgrowth.
Mild degenerative changes were also seen within the cervical spine.Whole body imaging was performed uponthe patient to look for other anomalies , however no other associated anomalycould be visualized in the patient.Surgical resection of the bony outgrowthwas performed and the resected segement of bone was sent for histopathoogicalevaluation which revealed normal bone tissue.
DISCUSSION:Congenitalabnormalities of the cervical spine can cause multiple symptoms such aslimitation of cervical movement, pain, neurological deficit and aesthetic anomalies6.Diagnostic evaluation of the vertebral anomalies is primarily performed byradiological investigations. Although conventional radiographs depict theanomalies in most of the cases, however differentiation between congenitalanomalies and traumatic causes can pose a difficulty at times, hence, in casesof uncertainty, CT scan is indicated. MRI is also indicated in patients with spinalanomalies because of the high incidence of intraspinal pathologies even in absence of clinical signs7,8.Unilateral hyperplasia of lamina andspinous process of C6 vertebra is not a common entity, only a very few cases havebeen reported in literature so far. In none of the cases reported so far,existence of vertebral fusion abnormality with elongated spinous processand schisis, has been seen in a singlepatient. In utero, the development ofthe vertebral arch begins in the 3rd to 6th gestational week and is completedby the second decade when fusion of the secondary ossification centers occurs 2.The exact etiology of unilateral hyperplasia of lamina and spinous process isunknown however, abnormal chondrification andossification of one vertebral arch with normal development of the other archbest explains the anomaly and the finding isusually detected incidentally.
The schisis defect observed is most probably due to the non union of thesecondary ossification centers of the spine (which usually completes in thesecond decade).Schisis is the simplest neural tube defect which is caused due to the failure of the fetus’s spine to close properlyduring the first 3-4 weeks of gestation, which usually completes in the seconddecade. Schisis in the lower cervicalspine is a common finding which is usually associated with congenital absenceof a cervical spine pedicle 9 and cervical spondylolysis 10. Giuseppe et al described a similar case of marked unilateralhyperplasia of a left posterior cervical arch with associated schisis at thesame level 4.
There is also a case report showing hyperplasia ofthe C7 spinous process in a 24 year old women published in the year 20073.Variousdevelopmental disorders of the cervical spine are described in literature, whichinclude Klippel- Feil Syndrome, occipitalisation of atlas, basilarinvagination, congenital absence or hypoplasia of pedicle, hemivertebra orbutterfly vertebra, but unilateral hypertrophy of spinous process is extremelyrare. Klippel- Feil Syndrome (KFS) is a syndrome that is characterized by classical triaddecreased cervical motion, short neck andlow-set posterior hairline 2.In our patient due to chronic cervical pain and hard mass, the patient underwent surgery and spinousprocess was excised. Conclusion: we describe the first case of unilateral gianthyperplasia of posterior cervical arch with schisis at the same level andcervical block vertebrae. Thisfinding may should be taken into accountby radiologists, neurologists andorthopaedic surgeons, while dealing withabnormalities of the cervical spine, the possibility of such anomalies shouldbe considered and the treatment planned accordingly.
since Congenitalhyperplasia of a spinous process does not cause any limitationof cervical spinal movement or neurological deficit, it is therefore imperativeto differentiate it from other cervical abnormalities, which need surgicalmanagement.