A genetic defect in the formation of the spine in a foetus means severe impairment of motor and sensory functions. Neuroscience can fortunately, address neural tube defect to magical results
This picture has been used for representational purpose
The conception of the human embryo, the genesis of organs, and its eventual delivery in the form of a healthy baby is one of the most magical natural phenomena and yet, one of the most mundane. Magical because around twenty thousand processes need to synchronise to code an equal number of genes. Mundane because this is also the approximate number of babies that are born every hour across the globe; we share our birthday with about 20 million people.
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The crystallisation of the brain and spinal cord, probably owing to my inherent bias, is the most captivating. Simplistically, the central nervous system appears in the embryo at the beginning of the third week after conception as a slipper-shaped structure called the neural plate, which then gently and purposely elevates, folding its enigmatic edges into a tube. The cranial end of the tube closes around the 25th day and allows for the development of the brain, while the tail end seals a few days later promoting spinal cord development over which the rest of the musculoskeletal system and skin develops.
Varun was born with a small lemon-sized lump over his back. His parents were told to keep a close watch, as this was a cutaneous harbinger of a neural tube defect. The bottom end of the neural tube had not closed in the designated and sequential fashion, an aberration in one of the few thousand processing patterns. Luckily for him, the skin covering had formed coherently, not exposing the spinal defect to air, often seen in more severe failures.
In cases such as these, where severe defects are noted on a prenatal ultrasound, utilising the augmented progress of surgical sciences, the foetus is exposed via a caesarean section by an obstetrician, the defect repaired by a neurosurgeon, and the baby placed back in the uterus for normal gestation to continue. This is sheer wizardry.
At four years of age, after having attained the usual motor milestones, Varun's parents noticed the swelling increasing in size. He started having recurrent falls and losing control over his bladder. This happens as the spinal cord gets stretched, resulting in a dysfunction of the nerves responsible for bowel and bladder function and lower limb strength.
An X-ray showed that the arches had not fused at two lumbar vertebral levels. We call this spina bifida. It is through this defect that the spinal cord herniates, causing undue stretching and varying degrees of motor and sensory dysfunction. The MRI showed not only the little lump tugging on the spinal cord but also the spinal cord being split into two tubes four levels above, which we call a split cord malformation. For all that was going on inside of him, Varun displayed a stoic bravado, smilingly.
"Will he be able to get married?" was the first question the parents of this child asked after I had explained the details of his condition and the implications of surgery to untether the cord. While this appears to be the primary aim and life purpose of every Indian parent, theirs was a genuine concern arising from the preceding discussion: this entity or its treatment could be associated with sexual dysfunction later in life. Nonetheless, I have had this question asked to me by parents of kids with brain tumours, epilepsy, vascular anomalies, and even persistent backache. "We will cross that bridge when we get there," I placated them.
"Will I able to play football?" was Varun's more pressing concern-and rightly so. Children perceive the world more tangibly and calmly than adults. They are not mired by the chagrin of adulthood; their desires are simple and rudimentary, and joy is all they seek. I nodded an "of course, yes," with audacious optimism.
A few days later, we made a straight and smooth incision down Varun's back, neatly curving around the lump to incorporate it. We dissected through glistening pearls of fat leading us to the bony defect, and I was once again struck by how tissue in children is so pristine and clear, unalloyed from the wear and tear of adult life. The principle in any anomaly surgery is to expose the normal level above and below and only then proceed to fix the pathology. We proceeded to do this and untethered the cord. We ascended a few levels higher, converting the cord that had been split into a single tube by removing a wedge of fibro-cartilaginous tissue dividing it. We closed the defects in multiple layers, the more tedious part of the operation being to ensure spinal fluid doesn't leak out, an entity that can be pesky to deal with post-operatively.
The global incidence of neural tube defects varies from one in a 1000 to one in 100 depending on the population one examines. India oscillates somewhere in-between. Besides strong genetic factors, the risk is directly linked to inadequate consumption of folic acid prior to conception and pregnancy. Several NGOs and family welfare programmes are supplementing these nutritional deficiencies in rural India.
Varun made a steadfast recovery over the next few years. Damaged nerves, like many other things in life, take time to recoup. He had to be catheterised at regular intervals to drain urine and his stool had to be digitally evacuated for a few months. On the brighter side, the strength in his legs had recovered sooner than expected and he was no longer falling. Every year that he followed up, he was stronger, sharper, and more determined.
A decade later, as he transitioned into a handsome adolescent gaining both form and function, he captained his school football team to a national victory. The split in his cord could not crack his crux. A fissure had, in fact, fortified his foundation. For everything that divides, the human spirit unites. Varun reminded me of this once again.
The writer is practicing neurosurgeon at Wockhardt Hospitals and Honorary Assistant Professor of Neurosurgery at Grant Medical College and Sir JJ Group of Hospitals.
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