Navi Mumbai: A rare neurological disorder—IgLON5 syndrome—that was initially mistaken for a spinal condition requiring surgery, was accurately diagnosed and successfully treated at Wockhardt Hospitals, Mumbai Central, with the combined expertise of specialists from neurosurgery and neurology.
The patient, a 68-year-old, began experiencing occasional involuntary jerking of his upper body while falling asleep during a vacation in the United States. What began as a minor disturbance quickly escalated into severe sleep disruption, postural imbalance, neck dystonia, weight loss of over 10 kg in six months, and extreme slowness in movement.
68-Year-Old Man Diagnosed With Rare IgLON5 Syndrome After Misdiagnosis | file photo
Despite seeking multiple medical opinions across cities and even from family doctors, the patient was misdiagnosed with Parkinson’s disease and placed on ineffective medication. As his symptoms worsened and walking became difficult, he was eventually advised to undergo spine surgery.
Before proceeding with surgery, the patient consulted Dr. Mazda Turel, Consultant Neurosurgeon at Wockhardt Hospitals, who, after reviewing his clinical profile and imaging, ruled out any spinal pathology. Recognizing the complexity of symptoms, Dr. Turel referred him to Dr. Prashant Makhija, Consultant Neurologist, suspecting an underlying neurological disorder.
Dr. Makhija's thorough evaluation led to the suspicion of IgLON5 syndrome, a rare autoimmune neurodegenerative disorder first identified in 2014. Confirmatory tests revealed the presence of IgLON5 antibodies in both blood and cerebrospinal fluid, confirming the diagnosis.
“IgLON5 is an uncommon and often misdiagnosed condition,” explained Dr. Makhija. “Its symptoms overlap with Parkinson’s and spinal issues, but in his case, disturbed sleep and unusual sleep behavior pointed us toward this rare disorder. Timely diagnosis and immunotherapy can significantly improve outcomes.”
Following the diagnosis, the patient was treated with high-dose corticosteroids and intravenous immunoglobulin (IVIG). His response to the treatment was rapid and remarkable—jerking movements subsided, posture improved, sleep normalized, and his overall quality of life improved substantially.
“This case is a powerful reminder of the importance of interdisciplinary collaboration in neurology,” said Dr. Turel. “A missed diagnosis could have led to unnecessary surgery and potentially irreversible progression.” The patient is now undergoing ongoing immunotherapy and regular follow-ups at Wockhardt Hospitals.
