MUMBAI: A grandmother who would suddenly break out into dance-like movements, make flinging movements with her hands or hit her family members turned out to have one of the rarest brain disorders in the world.
Diagnosing the case, though, was not an easy task and the 63-year-old woman’s family had spent almost six to eight years visiting various doctors in Mumbai, where her daughter lives, and in and around their hometown in Uttar Pradesh.
Earlier this year, her daughter took her to BMC-run KEM Hospital in Parel and within a few weeks the elusive diagnosis was available: DRPLA or dentatorubral-pallidoluysian atrophy.
The woman was one of the two cases from KEM Hospital that were among the 20 cases presented as the ‘most difficult to diagnose’ cases in the world of neurology this year, said KEM Hospital dean Dr Sangeeta Ravat, who is also a neurologist.
Dr Pankaj Agarwal, an honorary neurologist at KEM Hospital who was a part of the team that diagnosed the case, said, “We found the woman had uncontrolled movements for the last eight years, and over the years her cognition declined and she had the beginnings of dementia when she was brought to us.” The woman seemed to have lost her inhibitions, especially about using restrooms, and her violent behaviour had got her four children worried.
Senior resident Dr Koustubh Bavdhankar, who presented the woman’s case to the world’s best known movement disorder specialists at the international Congress on Movement Disorders held in Copenhagen recently, said, “Only 295 cases of DRPLA are known in medical literature so far. In India, this is the third known case,’” he said.
It was a series of tests, including an MRI scan and a genetic test, that identified her condition. “The most telling finding was that the brain’s white matter had hyper intensified while other parts had atrophied,’” said Dr Bavdhankar. DRPLA is more prevalent among the Japanese and is known to be caused by a genetic mutation.
However, there is no known treatment for the condition and doctors have to provide symptomatic treatment for the patient’s problems. The KEM team focused on behaviour therapy as well so that her family could travel with her back to her hometown.
“The second case we presented was about a policeman from Uttar Pradesh who couldn’t walk or sleep on the bed. His neck would constantly droop,” said Dr Ravat.
The Sultanpur cop’s condition was misdiagnosed as Parkinson’s Disease or Amyotrophic Lateral Sclerosis (ALS). In October 2022, as his weight dropped from 97kg to 57kg over 18 months, Lucknow doctors sent him to Tata Memorial Hospital, Parel, where the doctors ruled out cancer and referred him to neighbouring KEM Hospital’s neurology department. Within days, he was diagnosed with a relatively new auto-immune condition called anti-IgLON5.
There are about 70 known cases of Anti-IgLON5 globally since 2014. Uphadyay was treated with steroids and monoclonal antibodies, and improved enough to walk out on his own in a few months.
Diagnosing the case, though, was not an easy task and the 63-year-old woman’s family had spent almost six to eight years visiting various doctors in Mumbai, where her daughter lives, and in and around their hometown in Uttar Pradesh.
Earlier this year, her daughter took her to BMC-run KEM Hospital in Parel and within a few weeks the elusive diagnosis was available: DRPLA or dentatorubral-pallidoluysian atrophy.
The woman was one of the two cases from KEM Hospital that were among the 20 cases presented as the ‘most difficult to diagnose’ cases in the world of neurology this year, said KEM Hospital dean Dr Sangeeta Ravat, who is also a neurologist.
Dr Pankaj Agarwal, an honorary neurologist at KEM Hospital who was a part of the team that diagnosed the case, said, “We found the woman had uncontrolled movements for the last eight years, and over the years her cognition declined and she had the beginnings of dementia when she was brought to us.” The woman seemed to have lost her inhibitions, especially about using restrooms, and her violent behaviour had got her four children worried.
Senior resident Dr Koustubh Bavdhankar, who presented the woman’s case to the world’s best known movement disorder specialists at the international Congress on Movement Disorders held in Copenhagen recently, said, “Only 295 cases of DRPLA are known in medical literature so far. In India, this is the third known case,’” he said.
It was a series of tests, including an MRI scan and a genetic test, that identified her condition. “The most telling finding was that the brain’s white matter had hyper intensified while other parts had atrophied,’” said Dr Bavdhankar. DRPLA is more prevalent among the Japanese and is known to be caused by a genetic mutation.
However, there is no known treatment for the condition and doctors have to provide symptomatic treatment for the patient’s problems. The KEM team focused on behaviour therapy as well so that her family could travel with her back to her hometown.
“The second case we presented was about a policeman from Uttar Pradesh who couldn’t walk or sleep on the bed. His neck would constantly droop,” said Dr Ravat.
The Sultanpur cop’s condition was misdiagnosed as Parkinson’s Disease or Amyotrophic Lateral Sclerosis (ALS). In October 2022, as his weight dropped from 97kg to 57kg over 18 months, Lucknow doctors sent him to Tata Memorial Hospital, Parel, where the doctors ruled out cancer and referred him to neighbouring KEM Hospital’s neurology department. Within days, he was diagnosed with a relatively new auto-immune condition called anti-IgLON5.
There are about 70 known cases of Anti-IgLON5 globally since 2014. Uphadyay was treated with steroids and monoclonal antibodies, and improved enough to walk out on his own in a few months.
