Case Report Atypical Presentation of Neuropsychiatric Lupus With Acanthosis Nigricans Juliette Miquel MD a , Smail Hadj-Rabia MD, PhD a , Nathalie Boddaert MD, PhD b , Karine Lascelles MD c , Nadia Bahi-Buisson MD, PhD d, * a Department of Dermatology, Necker-Enfants Malades Hospital, Assistance Publique-Hopitaux de Paris, Paris Descartes University, Paris, France b Department of Pediatric Radiology, Necker-Enfants Malades Hospital, Assistance Publique-Hopitaux de Paris, Paris Descartes University, Paris, France c Department of Paediatric Neurology, Evelina Children’s Hospital, London, United Kingdom d Division of Pediatric Neurology and Metabolic Disease, Department of Neurology, Necker-Enfants Malades Hospital, Assistance Publique-Hopitaux de Paris, Paris Descartes University, Paris, France article information Article history: Received 30 January 2012 Accepted 11 June 2012 abstract Cutaneous manifestations are commonly observed in pediatric patients with systemic lupus erythematosus. Acanthosis nigricans, however, is rarely reported, and even less often in association with neuropsychiatric manifestations of lupus erythematosus. We describe a 9-year-old boy with acute behavioral and cognitive deterioration, combined with cutaneous, diffuse hyperpigmented and hyperkeratotic plaques. Cerebral magnetic resonance imaging revealed cortical atrophy and white matter abnormalities involving the fornix, corpus callosum, and parieto-occipital periventricular regions. The presence of progressive cognitive and behavioral deterioration, combined with abnormal white matter signals on magnetic resonance imaging, led us to suspect X-linked adrenoleukodystrophy. The subsequent development of systemic signs, together with positive serologic tests, confirmed the diagnosis of neuropsychiatric lupus with acanthosis nigricans. We review the literature on acanthosis nigricans in systemic lupus erythematosus and the value of magnetic resonance imaging in evaluating patients with neuropsychiatric systemic lupus. Ó 2012 Elsevier Inc. All rights reserved. Introduction Neuropsychiatric features in systemic lupus eryth- ematosus are common and occur in approximately 25% of children with systemic lupus erythematosus [1]. According to the core definition of the American College of Rheuma- tology, a wide variety of abnormalities, ranging from global cerebral dysfunction to focal deficits, have been attributed to neuropsychiatric systemic lupus erythematosus. The clinical manifestations of pediatric neuropsychiatric systemic lupus erythematosus range from subtle cognitive dysfunction to severe central nervous system involvement. The most commonly observed manifestations include headaches, psychosis, cognitive dysfunction, stroke, seizures, and confusional states [2-4]. When neuropsychiatric systemic lupus erythematosus is suspected on the basis of clinical history and examination findings, diagnostic approaches include serologic tests for active lupus (e.g., C-reactive protein, complement, and anti-double-stranded DNA), the analysis of cerebrospinal fluid, and screening for neuropsychiatric systemic lupus erythematosus biomarkers such as antiphospholipid, anti- ribosomal P, and antineuronal antibodies [5]. Neuroimaging is an important tool in the diagnosis and assessment of neuropsychiatric systemic lupus eryth- ematosus. The most consistent imaging features comprise small focal lesions concentrated in the periventricular and subcortical white matter, with cortical and subcortical atrophy. Ventricular dilatation is also common [2]. We describe a 9-year-old boy with neuropsychiatric systemic lupus erythematosus who presented with a combination of neurologic deterioration and cutaneous abnormalities. Magnetic resonance imaging revealed white * Communications should be addressed to: Dr. Bahi-Buisson; Division of Pediatric Neurology and Metabolic Disease; Department of Neurology; Hôpital Necker Enfants Malades; 149 Rue de Sèvres; 75015 Paris, France. E-mail address: nadia.bahi-buisson@nck.ap-hop-paris.fr Contents lists available at ScienceDirect Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu 0887-8994/$ - see front matter Ó 2012 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2012.06.005 Pediatric Neurology 47 (2012) 291e294