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Riya, a bright yet delayed young girl, faced developmental hurdles and unusual movements that left doctors searching for answers. Genetic testing uncovered a rare PDE2A mutation linked to intellectual disability and seizures. Following expert guidance, a caffeine trial dramatically reduced her episodes, offering renewed hope for a healthier future. The case underscores how precise genetic diagnostics can enable personalized treatment.
At 4-years of age, Riya (name changed) was just like any other child of her age, eyes full of mischief and dreams. But there was something worrying her parents - Riya had not started speaking.
She often experienced sudden episodes of involuntary movements during which she remained aware but was still unable to speak. Born to healthy parents from the same extended family, the child's missing early developmental milestones were an evident concern for the parents. They consulted their pediatrician and then went through early medical assessments which pointed toward seizures, but routine tests failed to fully account for what she was experiencing.
Finally, when the parents consulted Dr. Lokesh Lingappa, Clinical Director – Division of Pediatric Neurosciences, Yashoda Hospitals, Hyderabad, he advised a genetic test to understand the condition better. Through MedGenome’s Next-Generation Sequencing, an advanced genetic test, a rare inherited neurodevelopmental disorder was diagnosed.
The child had a genetic mutation of the PDE2A gene, a rare, damaging, and conserved variant that leads to intellectual developmental disorder with paroxysmal dyskinesia or seizures.
With this clarity on the diagnosis, Dr. Lingappa was able to design a treatment plan for the child.Various recent studies suggested that caffeine can be beneficial and well-tolerated in cases involving PDE2A-related mutations. With the child’s previously reported resistance to standard medications, a caffeine trial was started for the child. Within a few weeks, she experienced a remarkable decrease in both the frequency and severity of hyperkinetic episodes, leading to occasional symptom-free days. While her treatment continues, Riya is living a healthier life today.
The diagnosis and subsequent treatment enabled with genetic testing have given her family renewed hope for a future where Riya can lead a normal life, just like other children her age.(Dr Thenral S. Geetha, Principal Scientist – Inherited Disease Genomics, MedGenome Labs Ltd, and Dr. Lokesh Lingappa, Clinical Director – Division of Pediatric Neurosciences, Yashoda Hospitals, Hyderabad)
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