Doctors at the Neuro division at Geetanjali Hospital in Udaipur came across a rare case a neurological disorder, that was later classified as Stiff-Person Syndrome.
A 42 year old female, resident of Kanod, arrived at Geetanjali Hospital complaining of sudden onsets of severe painful jerky movements of both legs, accompanied by a stiff back. As per the history, doctors at a local hospital had already injected multiple injections, but there was no improvement in her condition. She was then referred to Geetanjali, where a team of doctors led by Dr Anis Jukkarwala at the neuro center began their asssessment of her condition. While she was admitted in Emergency, she had violent jerks in both legs, high Blood Pressure and Pulse. The agony of pain was tremendous. She was rushed to ICU where Dr. Anis Jukkarwala and his team, which included Dr. Mandar W, Dr. Shashidhar M & Dr. Pradeep S, attended her.
On examination, there was severe stiffness of back and legs, however, her arms and face were normal and she was fully conscious. There were severe fluctuations in BP, heart rate, respiration and the patient was sweating profusely. After taking care of her vitals, she was immediately started on injections like Lorazepam and Levetiracetam which controlled her jerks temporarily. On probing into past history, she had similar complains of jerky movements since almost 2 years, albeit never with such severe intensity. At first instance, it appeared like a case of epileptic fits, tetanus or spinal cord compression.
After conducting extensive evaluations viz. blood tests including muscle enzymes, MRI of brain & spine, EEG of brain, CSF study by Lumbar puncture and nerve conduction study, it was found that the reports were all normal. This suggested that it was non of the common diseases. It was indeed a challenging case!!
It is a famous dictum that says, “The eyes see only what the mind knows”. Based on experience, the medical team suspected that it was a case of “Stiff-Person Syndrome” and to diagnose it Anti-GAD 65 antibodies were sent in blood and CSF, which came out to be strongly positive. Thus, the diagnosis of Stiff-Person Syndrome was confirmed.
Stiff-Person Syndrome is a very rare neurological disease with estimated prevalence of only 1 in 1 million. It is an antibody mediated disease characterized by painful stiffness of back and limbs along with superimposed spasms, which resembles common diseases like tetanus. According to Dr. Jukkarwala, a high index of suspicion is required to diagnose such rare diseases and in this case too, absence of any previous injury along with long duration of symptoms led the team to think away from Tetanus. The patient was treated with a course of immunoglobulin injections and other anti-spasticity medications. After starting treatment, the patient has improved significantly and is out of her misery.