When Knife Precedes the Diagnosis

Dear Editor, In the early years of a child’s life, every milestone missed or delayed can cause anxiety in the parents or caregivers. The search for answers often leads families seeking numerous opinions – from healthcare professionals, other family members and even spiritual leaders. This can start a chain reaction of mislabels, a constellation of investigations and well-meaning but misguided interventions. Can these interventions, often surgical, take away the precious time physiatrists had for early and targeted rehabilitation? In this letter, I wish to highlight two cases where such a misstep led to real and lasting consequences. Both children presented to our department during adolescence, both having been operated upon in early childhood, and both later diagnosed with Spinal Muscular Atrophy (SMA). Their stories represent not rare exceptions, but systemic lapses. CASE VIGNETTES Case 1 A 10-year-old girl presented with severe spinal deformity, inability to sit independently, walk and progressive breathing difficulty. The prenatal and antenatal history was unremarkable. She had delayed attainment of developmental milestones and did not attain ambulatory potential till the age of 6 years. She was taken to multiple medical practitioners over time. At age 7, on advice from a local centre, she underwent bilateral hamstring lengthening. There was no clinical improvement postoperatively. Over the years, her spinal deformity progressed, and she developed restrictive lung disease. A recent nerve conduction study and electromyography revealed findings consistent with a lower motor neuron disorder, with fibrillations, positive sharp waves and chronic denervation suggestive of SMA. Case 2 An 11-year-old boy presented with progressive difficulty in walking and an abnormal walking pattern. The patient was never fully evaluated by a medical professional. He was taken to an organisation and underwent Tendo-Achilles lengthening at age 6, again without any post-operative benefit. He was recently evaluated and found to have absent H-reflexes and decreased compound muscle action potential amplitudes on nerve conduction studies. Electrophysiological findings were consistent with Anterior Horn Cell disease, likely SMA. No genetic testing had been done until recently. These cases are a sober and powerful reminder of how easily cerebral palsy (CP) can become a go-to label for any case with developmental delay. In both children, early features such as hypotonia, areflexia, tongue fasciculations and progressive weakness were missed or not documented. What followed was surgery, before a definitive diagnosis could be made. Surgical interventions which were not indicated, fostered undue hope in parents and delayed significant neuromuscular rehabilitation strategies. Recent literature emphasises an overlap in early presenting signs and symptoms of CP and SMA. For instance, a diagnosis of hypotonic CP early in life, without proper evaluation, can mask SMA.[1] Many genetic neuromuscular conditions present with CP-like features in early childhood but are ultimately distinct entities – diagnosable with targeted genetic and electrophysiological evaluation.[2,3] Delays in diagnosing SMA often stem from families consulting multiple healthcare providers in an effort to exclude other conditions before arriving at the appropriate genetic testing. This prolonged ‘diagnostic odyssey’ spans from the onset of initial symptoms to the eventual confirmation of SMA. It places a significant yet avoidable physical and emotional burden on both patients and their caregivers.[4] In the realm of our branch that has empathy at its core – Physical Medicine and Rehabilitation, we pride ourselves for focusing on functional improvements. However, when the patients are operated on before a definitive diagnosis, function may be irreversibly compromised. Muscle lengthening procedures in undiagnosed SMA, a progressive motor disorder, not only fail to improve mobility but also can worsen biomechanical instability, delay appropriate rehabilitative interventions and cause unnecessary caregiver burden. Another point to ponder over is that these were not rare oversights; they were systemic failures. Families were not aware of the red flags. Clinicians possibly lacked access to neurodiagnostics or were too quick to assign the CP label, which hardly gets challenged. As a young physiatrist, I have met many such children who are labelled too soon and go under the knife, even sooner. It is our responsibility as rehabilitation physicians to look beyond the label, especially when the clinical picture tells a different story. A child with hypotonia, absent reflexes, tongue fasciculations and intact cognition should be re-evaluated. We must pause before stamping a diagnosis. Early electrodiagnostic studies and genetic testing, when in doubt, can save time, effort and undue mental exhaustion of the patients and their caregivers. Every child presenting with developmental delay does not have CP. When the knife precedes the diagnosis, we risk not just functional loss, but a loss of trust in the healthcare infrastructure, potential functional gains and dignity. These children come to us not just for rehabilitation, but for recognition, for someone to see them clearly and wholly. Let us not fail them. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.