Leveraging its expertise in advanced genomic testing in neurology, Meenakshi Super Speciality Hospital in Madurai diagnosed a rare genetic disorder in a 13-year-old girl who had experienced multiple episodes of unexplained brain bleeding over two years and successfully halted the life-threatening condition using targeted biological therapy.
The girl was diagnosed with DADA2 (Deficiency of Adenosine Deaminase 2), a rare inherited genetic disorder that affects the immune system and small blood vessels, often leading to inflammation and serious complications such as blood vessel damage, strokes, or bleeding in the brain. In her case, doctors used Whole Exome Sequencing, a form of advanced genetic testing, to identify a mutation in a specific gene linked to the condition. The medical team began treatment with Adalimumab, a biological drug that reduces inflammation and stabilises blood vessels. Since starting the therapy, the patient has remained free from further bleeding episodes.
During her earlier episodes of brain bleeding, the girl underwent multiple rounds of diagnostic imaging, including MRI scans and cerebral angiography, to check for structural issues such as aneurysms or vascular malformations. However, all results came back normal, leaving the cause of the recurrent bleeding unexplained despite thorough clinical evaluation.
In his comments, Dr. S. Narendiran, Senior Consultant, Department of Neurology, who led the diagnosis, said, “DADA2 is an extremely rare genetic disorder, and because its symptoms can mimic other more common conditions, it often goes undiagnosed for years. In this case, the repeated brain bleeds in different regions without any structural abnormalities on MRI or angiography made us suspect an underlying genetic cause. That’s when we turned to Whole Exome Sequencing, which is essential for identifying rare mutations like those seen in DADA2. Early genetic diagnosis allowed us to start targeted treatment and prevent further complications.”
On the treatment given, he said, “The patient is currently being treated with Adalimumab, a biological injection that blocks inflammation-causing proteins in the body. This has helped stabilise her condition and prevent further bleeding episodes. While she is responding well to this treatment now, some patients with DADA2 may eventually require a bone marrow transplant, especially if complications like immune system dysfunction or blood cell abnormalities arise. We will continue to monitor her closely and adjust the treatment as needed.”
In his comments, Dr. Gowtham Kuncha, Consultant and Interventional Neurosurgeon, said, “The girl had experienced multiple seizures over the past two years, and during her first episode of brain bleeding, she was treated at another hospital. When she came to us following a second episode of bleeding last year, we conducted extensive imaging, including MRI and cerebral angiography, to rule out structural abnormalities such as aneurysms or vascular malformations. However, the scans showed no anatomical defects, and the bleeding had shifted from the left side of the brain in the first episode to the right side in the second. This unusual presentation made a strong case for an underlying genetic cause, and she was referred to the Department of Neurology for further evaluation.”
The patient has two siblings, both of whom are currently healthy. As a precautionary measure, they are scheduled to undergo genetic screening to check for the same DADA2 mutation, since the condition is inherited.
Dr. Selvamuthukumaran, Senior Consultant and HOD, Department of Neurosurgery, Dr. Vijay Anand, Senior Consultant and HOD, Department of Neurology, Dr. Senthilkumar, Senior Consultant, Department of Neurosurgery, Dr. Jaberlin Sneha, Associate Consultant, Department of Neurology, and Mr. Dileep Bernard from the hospital were also present during the press meet.
At Meenakshi Super Speciality Hospital, neurological care has seen significant advancements, with a comprehensive range of interventions now offered for complex brain and nervous system disorders. The hospital provides cutting-edge treatments for seizures and epilepsy, including epilepsy surgeries and vagus nerve stimulation. It also offers advanced stroke interventions such as mechanical thrombectomy and brain arterial stenting.