Treatment Story: Rare Spinal Deformity Congenital Atlanto-Axial Malformation

1 in 10,000 in general population suffers from this spinal abnormality, headache, neck pain, and unsteady gait are the typical symptoms

  • Congenital Atlanto-Axial Malformation leads to deformed joints, and restricted neck and head moment
  • The causes of this uncommon condition are defective bone formation; can also occur because of tumour, infection and fracture
  • Early diagnosis and treatment can prevent further deterioration and paralysis

Mumbai: A team led by Dr Abhay Nene, Spine Surgeon at Wockhardt Hospital, Mumbai Central, helped a teacher by successfully performing occipito-cervical fusion (OCF), a surgery for correcting the instability of joints due to Congenital Atlanto Axial Malformation, and dislocation of first cervical Vertebra over 2nd cervical vertebra.

Mrs Amrit Kaur, a school teacher from Kolkata Calcutta Emmanuel School complained of frequent headaches, neck pain, right arm pain, gait imbalance since a year. Her life became miserable and she was jolted out of her normal life. Teaching, bending, and doing other household chores became a distant dream. Even after consulting various medical professionals, her condition didn’t improve. However, Wockhardt Hospital came to the patient’s rescue, and gave her a new lease of life.

Dr Abhay Nene, Spine Surgeon at Wockhardt Hospital, Mumbai Central, underscored, “This patient suffered from a rare spinal deformation called as Congenital Atlanto Axial Malformation due to defective formation of bone and dislocation of the cervical vertebra 1 and 2. Here, the skull rocks against the neck, and there is a huge strain at the base of the brain and spinal cord. This restricts the head and neck moment and can cause headaches, neck pain, nausea, numbness and breathlessness which can be life-threatening. 1 in 40 patients, who visit me every day, suffer from this spinal abnormality which goes undiagnosed. When it comes to the general population, 1 in 10,000 may get this spinal deformity.”

He added, “A dynamic CT scan is done to detect this rare condition which shows that the first bone in the neck which is at the base of the skull is slipping against the second bone causing spinal cord compression leading to headache and neck pain. For around 4 months, the patient was asked to do exercises to strengthen the muscles that run between the skull to compensate the joint instability along with cervical collar also known as a neck brace.”

Later, an occipito-cervical fusion was done which is an effective surgical method to correct the joint instability. “By placing the patient in the prone position, screws were placed in occipital condyle and C2-C3 small bones at the base of the skull. The surgery was performed in June 2019. The surgery lasted for 3 hours, and she was discharged on 5th day. Now, the patient is living the life she always wanted to. One must remember that early diagnosis is the key, and can prevent surgery.”

Patient Mrs Amrit Kaur said, “I would constantly suffer from neck pain and headache, but kept ignoring it. But, a year ago, things went out of control, as my pain & numbness worsened & I started having imbalance while walking.  Even after consulting doctors, the pain didn’t subside, and my condition remained undiagnosed. Fortunately, Wockhardt Hospital was able to identify it and saved my life. After surgery, I have been able to carry out my real-world activities with ease and resumed teaching. I am happy now and want to urge people to opt for timely intervention in case they notice symptoms like headaches and neck pain.”

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