Aim To consider the broad differential diagnosis for a previously well child presenting with anaemia and stroke.
Method Case based discussion
Result A British Bangladeshi previously well three year old child presented to A/E with a one week history of fever, pallor, lethargy and weakness. There was no significant past medical or family history.
On examination she had a malar facial rash, cervical lymphadenopathy, tachycardia and pallor. Normal heart sounds, clear chest, hepatomegaly, no abdominal masses or musculoskeletal signs.
Her initial bloods on admission were Hb 3.8 g/dl, WC 11.9, neutrophils 5.5, lymphocytes 5.3, platelets 169, Hct 0.08, MCV 117.9, reticulocytes count 234 (25%). Blood film- polychromasia, no blasts, no clots, clotting screen normal, haemoglobinopathy screen negative, G6PD normal, ferritin 539, haematinics revealed no deficiency. LDH 1499, CRP <5, Bilirubin 58 but otherwise normal liver and renal function. It was difficult to ascertain the blood group due to a pan-reacting autoantibody panel. She was transfused with O negative blood.
Forty eight hours later she deteriorated had reduced power, increased reflexes and was confused and agitated. The CT head was normal but a subsequent Brain MRI/A revealed multiple small infarcts. She was referred to a tertiary centre for a rheumatology, haematology and neurology consult. At that point the differentials included systemic lupus erythematosis, vasculitis, Evans and interferonopathy.
A bone marrow aspirate was omitted as the blood flow cytometry was normal. The autoantibody panel was positive for ANA, dsDNA, lupus anticoagulant, and anti-cardiolipin, low complement and positive DAT. Hence, she was treated with high dose steroids, Rituximab, Cyclophosphamide and further blood transfusions.
Conclusion It is important to think about systemic lupus erythematosis (SLE) as a differential when seeing a child presenting with acute haematological abnormalities and neurological symptoms. Like tuberculosis and HIV, SLE is a condition that can present with perplexing symptomatology and must be on the differential for multisystem disease. Untreated SLE is associated with a high morbidity and mortality.
The American College of Rheumatology (ACR) have diagnostic criteria that are widely used in Paediatric Rheumatology.
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