Anti-GAD epileptic encephalopathy in a toddler with Parry-Romberg syndrome
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Anti-GAD epileptic encephalopathy in a toddler with Parry-Romberg syndrome Stefano Sotgiu 1
&
Alessandro Consolaro 2 & Susanna Casellato 1 & Francesc Graus 3 & Paolo Picco 2
Received: 18 September 2019 / Accepted: 29 November 2019 # Fondazione Società Italiana di Neurologia 2019
Abstract Parry-Romberg syndrome (PRS) is a progressive facial hemiatrophy often associated with severe epilepsy. Although an immunemediated vasculitic pathogenesis is widely assumed, no CNS-specific autoantibody has been described so far. A 2-year-old boy was admitted for a status epilepticus preceded by fever, restlessness, insomnia, and left facial rash. Cerebrospinal fluid was positive for glutamic acid decarboxylase (GAD)-antibodies. Brain MRI revealed FLAIR hyperintensities on left mediotemporal areas. He was successfully treated with intravenous methylprednisolone. One month later, seizures and facial rash reappeared and steroids were satisfactorily repeated. However, left hemifacial rash reappeared 5 months later, slowly followed by sclerotic skin lesions on frontal scalp and hemifacial sub-atrophy, leading to a diagnosis of PRS. Three years later, and despite chronic immunosuppression, new MRI lesions on left white matter are seen and left hemifacial atrophy has progressed. For the first time, we describe GAD autoantibodies in a PRS patient with epileptic encephalopathy. Epileptic syndromes with GAD autoantibodies are frequently described though with a questionable pathogenic significance. Given the clinical and MRI similarities of PRS with both Morphea and Rasmussen’s encephalitis, we suggest that, in our patient, the initial facial skin vasculitis spread into CNS vessels through perforating arteries, inducing neuronal MHC-class I presentation of GAD epitopes, ultimately causing CD8-mediated neuronal cytotoxicity and the epileptic encephalopathy. GAD autoantibodies might represent the missing pathophysiological link between PRS and neuropsychiatric manifestations. Keywords Anti-GAD antibody . Autoimmune epilepsy . Autoimmune encephalopathy . Parry-Romberg syndrome
Abbreviations HHV-6 Human herpesvirus-6 CD8 CD8+ cytotoxic T cell TCR T cell receptor MHC Major histocompatibility complex GABA Gamma−aminobutyric acid WM White matter
* Stefano Sotgiu [email protected] 1
Unit of Child Neuropsychiatry, University Hospital of Sassari, Viale San Pietro 42, 07100 Sassari, Italy
2
Department of Paediatrics, Institute Giannina Gaslini, Genoa, Italy
3
Neuroimmunology Program, Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain
Background Parry-Romberg syndrome (PRS) is a slowly progressive facial hemiatrophy with epileptic comorbidity in around 20% affected children [1]. PRS shares demographic, cutaneous, radiologic, and neurologic similarities with morphea en coup de sabre (ECDS) [2]. As they may coexist (40% patients) and convert one to each other, some authors suggest they belong to a localised scleroderma spectrum, though the hypothesis is strongly debated [1, 2]. Pathophysiology
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