Pune doctor cures patient with rare congenital defect

The surgery lasted for two hours, with minimal blood loss, and the results were miraculous. With no evidence of brain stem or spinal cord injury, the patient could walk without support on the third day. The patient felt immediate relief in her problems

Ruby-eng

For a 55-year-old woman, the last ten years of her life have marked a period of struggle and pain. She felt a tingling in her limbs, and weakness in both the hands. She has vertigo and had lost her sense of balance, and she couldn’t even walk in a straight line. Moreover, she had constant headaches.

She said, “For many years, I ran from pillar to post, hoping someone could help me fix this condition. There were times when it was impossible for me to do any tasks with my hands. I tried many conservative treatments right from physiotherapy to painkillers, but in vain. Recently, I consulted Dr Bhushan Khedkar at Ruby Hall Clinic, and it turned out to be a blessing for me.”

On the first visit, she was diagnosed with muscle weakness in both limbs, a short neck with a low hairline, and restricted hand movements. Dr Bhushan Khedkar, a Consultant Spine Surgeon, Ruby Hall Clinic, said, “The clinical signs were suggestive of spinal cord compression at the neck level, and deficit in blood flow to the brain stem.”

He added, “Further tests like MRI, X-ray, and CT angiogram of the neck and brain revealed a rare congenital anomaly of CV Junction, which means Atlanto-Occipital Fusion with Basilar Invagination Syndrome. In simpler terms, it happens when the skull and upper cervical spine fuse together.”

Cranio-Vertebral congenital (CV) anomalies are rare, with an incidence rate of 1.4 to 2.5 per 1000 children. Such patients often have lower hairline and short neck. They suffer from a dull, aching pain at the back of the neck with restricted movement. Congenital cases can become worse over the years, due to the progressive nature of the condition. Most symptoms appear only in the 40s or 50s.

 

“In her case, we planned an Occipital Cervical Fusion Surgery. The surgery was critical because of already compromised blood flow to the brain and spinal cord due to the hypoplastic right vertical artery. There was also a risk of brain or spinal cord injury intraoperatively and required continuous specialised intra-operative neuro-monitoring. As a surgeon, it was challenging for me to put three screws in the cervical spine due to the congenital deformity in the vertebral bone,” Dr Khedkar concluded.

According to studies, such abnormalities can often prove to be life-threatening, as nerves inside the spinal cord lead to the brain, and there is a chance of brain stem getting damaged during surgery.

The surgery lasted for two hours, with minimal blood loss, and the results were miraculous. With no evidence of brain stem or spinal cord injury, the patient could walk without support on the third day. The patient felt immediate relief in her problems of vertigo, constant headaches, and the tingling sensation in her limbs.