One of the few physicians in the United States with extensive training in both neurology and neuropathology, Souhel Najjar, M.D., diagnoses the most elusive neurological conditions.
It's all about looking at things from the patient's perspective, he says.
"By interviewing patients and listening to the people closest to them very carefully, I can usually pick up diagnostic clues that indicate the presence of diseases that may have been discounted by others early on," said Najjar, Northwell Health's senior vice president and executive director of neurology.
His solution of Susannah Cahalan's medical mystery inspired the young journalist to write "Brain on Fire: My Month of Madness." The New York Times best-seller has been made into a film to be released later this year starring Chloë Grace Moretz.
After earning his medical degree from the Damascus University Faculty of Medicine in Syria, Najjar relocated to the United States. He studied pathology and neuropathology at Albany Medical College in upstate New York and, at the urging of his mentor, pursued clinical neurology. He later completed advanced training in neuropathology and extensively studied epilepsy and neurophysiology at New York University.
Now chair of neurology at Lenox Hill Hospital and Staten Island University Hospital, Najjar focuses on helping patients with neurological illnesses that are undiagnosed or refractory to conventional treatments.
Cahalan was one such patient. In 2009, she came to see Najjar for mysterious symptoms that previous caregivers characterized as signs of bipolar disorder or schizophrenia. The 24-year-old had been exhibiting erratic behavior and experiencing extreme mood swings, hallucinations, paranoid delusions and generalized tonic-clonic seizures. She then became catatonic, and her personality was unrecognizable to friends and family.
Cahalan developed autonomic instability with extremely high blood pressure and a rapid heart rate. A few weeks earlier, she had complained of the sensation of bugs crawling on her left side. A lumbar puncture had shown an elevated white blood cell count in her cerebrospinal fluid.
Rather than mental illness, Najjar suspected a rare neurological disorder caused by a misguided immune attack on her brain, presenting with atypical psychosis.
"Misdiagnosis often occurs when we focus only on one stage of the disease as a snapshot," he said. "But I chose to evaluate the whole clinical picture. Susannah's illness did not begin on the day when she presented to the hospital with psychosis, but rather started a few weeks earlier when she developed an unusual numbness on her left side."
To test his hypothesis, Najjar asked Cahalan to draw a clock. She squeezed all of the numbers onto the right side of the clock face, ignoring the left side.
"That's referred to as left-sided visuo-spatial neglect and suggests a problem in the right parietal lobe, which controls the left side of the body's visual perception and sensation," Najjar said. "Suddenly, everything fit together."
Najjar determined that the left-sided visuo-spatial neglect, coupled with the elevated white cell count in her cerebrospinal fluid, indicated inflammation of Cahalan's right parietal lobe. A brain biopsy confirmed the brain inflammation, which he also considered as the cause for the erratic behavior, psychosis, seizures, catatonia and autonomic instability.
Furthermore, Najjar suspected that Cahalan was suffering from anti-N-methyl-daspartate receptor encephalitis (anti-NMDAR encephalitis), a rare autoimmune disease that is characterized by symptoms that mimic those of psychiatric conditions such as bipolar disorder and schizophrenia. So he tested Cahalan's blood and cerebrospinal fluid for NDMA receptor antibodies, and found they were indeed present.
Her anti-NMDAR encephalitis diagnosis confirmed, Cahalan successfully underwent immunotherapy treatment. Completely recovered, she went on to write her memoir.
"Susannah gave me the clues I needed to make her diagnosis," Najjar said. "It is a wonderful lesson for all of us: A 'million-dollar workup' that Susannah had at the beginning failed to diagnose the disease that threatened her life.
"We must listen carefully to our patients for the diagnostic clues that are hidden in their stories," he continued. "They know their symptoms better than anyone. Never give up on anyone. Indeed, allow your patients to be your best diagnostic tools."
