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Neurofibromatosis type 2 is a genetic disorder that causes tumours to grow on nerves, primarily in the brain and spinal cord. Congenital pseudoarthrosis of the tibia is a rare condition where the tibia, the larger of the two lower leg bones, fails to heal properly, leading to a false joint (pseudoarthrosis) and often resulting in bowing and fragility.
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A nine-year-old girl, Rekha (name changed), from Delhi, has finally found a ray of hope after years of battling a rare and debilitating bone condition that left her unable to walk or stand independently. Born with severely bowed legs due to a rare combination of neurofibromatosis type 2 (NF2) and congenital pseudoarthrosis of the tibia (CPT), Rekha’s childhood was severely impacted by limited mobility and multiple failed attempts at treatment.
Understanding the rare condition
Neurofibromatosis type 2 is a genetic disorder characterised by the growth of non-cancerous tumours in the nervous system, often affecting the brain and spinal cord. Globally, NF2 affects an estimated 1 in 33,000 people.
When combined with congenital pseudoarthrosis of the tibia, a condition where the tibia bone fails to heal properly and becomes prone to fractures, it creates a complex medical challenge. CPT is a rare condition, with an estimated incidence of 1 in 250,000 live births globally. In India, bone deformities and rare skeletal disorders like CPT are underreported, but experts suggest that thousands of children may be affected annually due to the country’s large population.
Rekha’s case was particularly severe. Despite undergoing surgery at the age of six, her bones failed to fuse, leaving her with fragile, non-healing limbs.
“The primary challenge was the non-union of bone ends, meaning the bones did not heal together as expected. Additionally, her bone marrow was very thin, and the overall bone quality was poor, making healing difficult. Even if we managed to treat her, the risk of refracture was extremely high,” explained Dr. Vikram Khanna, Senior Consultant in Orthopaedics & Joint Replacement at Aakash Healthcare.
A multi-step surgical breakthrough
Faced with these challenges, the medical team at Aakash Healthcare devised a multi-step surgical approach to address Rekha’s condition comprehensively. The girl’s treatment involved a multi-step surgical approach. Doctors removed abnormal tissue growth (hamartomas) from her legs, performed a bone graft to promote healing, inserted a Titanium Elastic Nailing System (TENS) nail to stabilise the tibia, used K-wiring for the fibula, and applied an Ilizarov external fixator to maintain bone alignment. An Ilizarov external fixator was also applied to keep the bones in place and stimulate proper healing.
“The Ilizarov frame was kept on for six months until X-rays confirmed that bone union had been achieved. During this period, we encouraged her to walk with the help of a walker, which helped strengthen her healing bones,” said Dr. Aashish Chaudhry, Director & Head of the Department of Orthopaedics & Joint Replacement at Aakash Healthcare.
A long road to recovery
While the surgery was successful, Rekha’s journey to full recovery is far from over. The TENS nails will remain in her tibia until she completes her growth spurt to minimize the risk of refracture. Doctors said that she will need to wear a plaster cast or brace for the next five to six years to protect her bones.
“She will also need routine X-rays every six months to monitor her bone health,” added Dr. Chaudhry. Despite the challenges, doctors are optimistic about her future. With continued bracing, rehabilitation, and regular follow-ups, Rekha is expected to lead a functional and active life.
What are bone deformities?
Bone deformities like CPT are part of a broader spectrum of rare skeletal disorders that affect thousands of children worldwide. According to the World Health Organization (WHO), congenital anomalies including bone deformities, account for approximately 6% of neonatal deaths globally.
In India, bone deformities are a major health concern. A study conducted in Karnataka over two years identified 169 cases of skeletal dysplasias, with 88% occurring in the pediatric population. Also, according to reports, bone tuberculosis contributes to deformities, accounting for 5-10% of the 1.5 million tuberculosis cases reported annually in the country.