A 6-year-old boy presented to our institute with complaints of restricted neck movements, deviation of the neck towards the right side, restricted range of motion at right shoulder joint, and deformity of thoracolumbar spine since birth. The patient was one of the three children of a couple from non-consanguineous marriage. In antenatal history, the mother did not receive any antenatal care, and the child was born via normal vaginal delivery at home. There was no family history of spinal or neural anomalies (Figs. 1, 2, 3, 4, 5, 6, and 7).
Physical examination demonstrated short neck, low posterior hairline, torticollis with a head tilt towards the right side and contralateral chin lift, elevated right scapula, visible scoliotic deformity of the thoracolumbar spine with convexity towards the left side. There was also a soft tissue swelling in the occipital region of the scalp.
The patient was referred to our department for radiographs of chest and spine which revealed elevated right scapula (Rigault’s classification grade II) and right-sided hemivertebrae at D9 and L5 with resultant scoliotic deformity with convexity towards the left side. Further imaging evaluation with non-contrast computed tomography (NCCT) was advised for better characterization of vertebral anomalies and other associated skeletal deformities. Magnetic resonance imaging (MRI) of brain and whole spine was also performed for characterization of scalp swelling and to detect any associated central nervous system (CNS) anomalies. Abdominal ultrasonography and echocardiography were done to rule out renal and cardiac anomalies respectively which were normal.
NCCT of the spine revealed scoliotic deformity of the spine with convexity towards the left side in the dorso lumbar spine and convexity towards the right side in the cervico dorsal spine. Multiple skeletal anomalies which were not appreciable on plain radiographs were also detected. These included CVJ anomalies (hypoplastic right occipital condyle, type A defect of the posterior arch of atlas and anterior arch cleft, hypoplastic odontoid process with atlantoaxial instability, and spinal canal stenosis), multiple segmentation and formation anomalies of the spine (fused posterior elements of C4-C5 and C5-C6; non-fusion of posterior elements of C4, C5, C6, C7, and L5 (spina bifida occulta); right-sided hemivertebrae at D1, D9, and L5 with hypoplastic left-sided posterior elements of D9 and L5). Right scapula and right clavicle were elevated lying between C5 and D4 levels with a thick bony bar seen arising from the fused right-sided neural arch of C5-C6 and extending posterolaterally towards superomedial part of elevated scapula (omovertebral bone). Multiple rib anomalies were also observed which included right-sided cervical rib, bifid left-sided first rib, fused left-sided second and third ribs near vertebral attachment, absent left 9th rib, and bilateral 12th ribs.
MRI brain revealed isolated inferior vermian hypoplasia with a cerebrospinal fluid (CSF)-filled cystic structure communicating with the fourth ventricle in posterior fossa. The findings were consistent with Dandy-Walker spectrum. There was also the presence of an occipital scalp swelling with areas of CSF signal intensity, which is seen to communicate with enlarged posterior fossa cyst through a calvarial defect. There was also associated vertical orientation of straight sinus. These findings were consistent with atretic cephalocele. MRI spine revealed kinking of cervicomedullary junction, obliteration of both anterior, and posterior subarachnoid spaces; however, normal signal intensity is noted within the spinal cord. USG abdomen did not reveal any abnormalities. Echocardiography was also normal. The patient was being considered for genetic testing for genes associated with KFS; however, due to financial constraints of the patient, it could not be done.
The patient was operated for Sprengel deformity following which he had significant improvement in range of motion at the shoulder joint. The parents were explained about the prognosis of associated anomalies and are put on follow-up for further management of scoliosis and planned excision of atretic cephalocele.