G316(P) Autism and CSLE (childhood onset systemic lupus erythematosus) diagnostic dilemma: a case of rare combinations

• Published in: Archives of disease in childhood 2020-10, Vol.105 (Suppl 1), p.A115-A115
• Main Authors: Devanahalli Nagaraj, C, Harris, J, Arani, S
• Format: Article
• Language: English
• Subjects: Antihypertensives; Antinuclear antibodies; Ascites; Autism; Autoimmune diseases; Biopsy; Bone marrow; Childhood; Children; Complement component C3; Complement component C4; Computed tomography; Cyclophosphamide; Deoxyribonucleic acid; DNA; Encephalopathy; Hematuria; Hypertension; Intensive care; Intravenous administration; Intubation; Lupus; Lymph nodes; Lymphadenopathy; Lymphoma; Lysis; Magnetic resonance imaging; Medical diagnosis; Methylprednisolone; Mycophenolic acid; Nephritis; Neuroimaging; Oncology; Pediatrics; Pleural effusion; Prednisolone; Proteinuria; Systemic lupus erythematosus
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2020-rcpch.273

CaseWe present a case of a 7-year-old girl with severe autism presenting with facial swelling and bilateral cervical lymphadenopathy initially thought to be lymphoma but later diagnosed as systemic lupus with nephritis and neuro-lupus. Her initial course was stormy needing admission to intensive care unit and referral to oncology centre for work up of lymphoma.This child had no significant hospitalisations in the past. Her initial blood results and CT (Computerised tomography) chest suggestive of lymphoma with tumor lysis. She was transferred to a local paediatric oncology centre for lymph node and bone marrow testing which were both negative. She developed focal seizure secondary to hypertension and PRES (Posterior reversible encephalopathy), needing intubation and transferred to intensive care unit for 48 hours. Magnetic resonance (MRI) imaging brain showed signs consisted with cerebral lupus. Autoimmune screen strongly positive for antibodies ANA (Antinuclear), ds DNA (double stranded deoxyribonucleic acid), Anti-Ro, Anti-Smith, RNP (Ribonucleoprotein), RNP70, low C3 (complement) and C4 in keeping with SLE.CourseShe was treated with intravenous (IV) pulsed methylprednisolone for 3 days, followed by oral prednisolone, IV cyclophosphamide and later switched to Mycophenolate (MMF) therapy with which she made good recovery. Renal biopsy was not performed as the child remained hypertensive despite being on antihypertensive medications. Other complications included ascites, pleural effusion and pericardial effusion which was managed conservatively. She stayed in the hospital for 2 months with good neurological recovery back to her previous status.At 3 months - She remains on immunosuppressive medication i.e. Mycophenolate and tapering doses of oral prednisolone with good clinical response. MRI head shows significant improvement in comparison to her previous images, complete resolution of the pericardial effusion and urine examination no evidence of proteinuria or haematuria.ConclusioncSLE (Childhood Systemic Lupus Erythematosus) with multi-system involvement in an autistic child can be difficult to diagnose and manage. The case highlights that cSLE is a disease of thousand faces with varied clinical presentations and the need for high index of suspicion. This case also highlights the role of multidisciplinary teams in the management of such complex cases.