Challenges in the diagnosis of anti-NMDAR disease in a young male patient: a case report

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disorder that is increasingly recognized as an important cause of autoimmune encephalitis. It is especially important to consider, because its symptoms can be severe, yet potentially treatable. The best outcome depends on prompt immunotherapy and complete tumor removal if present. Its diverse presentations often cause delay in its diagnosis and treatment.

We describe here a 15-year-old male who developed anti-NMDA encephalitis that was a particular challenge to diagnose. The course of his disease was also complicated with sinus thrombosis. He received immunotherapy in the form of IV steroids, plasma exchange, IVIG and finally rituximab together with anticoagulation resulting in complete improvement in his condition.

Anti-NMDAR disease should be suspected in any young individual who develops encephalopathy associated with seizures, psychiatric symptoms and/or movement disorders. Identification of NMDAR antibodies confirms the diagnosis and should prompt early intervention with immunotherapy and neoplastic workup.