Objective: We report a case of 5-year-old Indian boy with non-paraneoplastic anti NMDAR encephalitis associated with Coat’s like retinal telangiectasia.

Background: Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is a treatable neurological autoimmune disorder with primarily neurological manifestations. It results from autoantibodies directed against the N-terminal domain of the NMDA receptor’s NR1 subunit. It was initially reported in the setting of ovarian teratoma in young females, it is now commonly reported in adolescents & children of both sexes without any associated neoplasm.(1,2) Early recognition and institution of immunotherapy improve outcomes in these patients.

Method: This study includes a report of a 5-year old Indian boy who presented with neuropsychiatric manifestations and was diagnosed with anti NMDAR encephalitis. He underwent a detailed neurological and ophthalmological evaluation. Investigations included tests for autoimmune panel in serum, cerebrospinal fluid analysis and magnetic resonance imaging of brain.

Results: This previously healthy 5-year-old boy presented with subacute onset movement disorder in the form of generalized choreodystonic movements along with episodes of generalized tonic-clonic seizures and psychiatric symptoms. There was mild grade fever preceding the onset of symptoms. Ophthalmologic evaluation revealed Coat’s-like retinal telangiectasia in the left eye with normal visual acuity. Cerebrospinal fluid and Magnetic resonance imaging of brain were normal. Electroencephalogram showed characteristic delta brush appearance. Serum was strongly positive for NMDAR antibodies. Screening for primary malignancy was negative. He received pulse methyl prednisolone, intravenous immune globulin and rituximab (375 mg/m2body surface area weekly for four weeks) with favorable response to treatment. He achieved neurological stabilization following the second dose of rituximab.

Conclusion: Anti-NMDAR encephalitis can present with heterogeneous phenotypes and hence is often under-recognized. To the best of our knowledge, this is the first case showing association of Coat’s-like retinal telangiectasia with anti NMDAR encephalitis. Retinal neuron expresses NMDAR, which might be the target for antibodies. Though anterior or posterior visual pathway dysfunction has been reported in anti NMDAR encephalitis rarely;(3) retinal structural alteration is not reported so far.

References: 1. Dalmau J, Lancaster E, Martinez-Hernandez E, Rosenfeld MR, Balice-Gordon R. Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis. Lancet Neurol. 2011;10(1):63-74. 2. Peery HE, Day GS, Doja A, Xia C, Fritzler MJ. Anti-NMDA Receptor Encephalitis in Children : The Disorder , Its Diagnosis , and Treatment. Vol 112. 1st ed. Elsevier B.V.; 2013. 3. Brandt AU, Mikolajczak J, Zimmermann H, Prüss H, Paul F. Visual dysfunction , but not retinal thinning , following anti-NMDA receptor encephalitis. 2016;0:1-7.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/pediatric-anti-n-methyl-d-aspartate-receptor-encephalitis-associated-with-coats-like-retinal-telangiectasia/