Chronic eyelid oedema and lacrimal gland swelling: Lets dig deeper!

Abstract

A 12-year-old girl born to non-consanguineous parents presented with a 12-month history of painless, persistent bilateral periorbital swelling (Fig. 1). Past medical history was significant for recurrent chronic sinusitis since 5 years of age. Physical examination revealed well child with axillary lymphadenopathy and moderate hepatosplenomegaly. Ophthalmologic examination revealed bilateral eyelid swelling and lacrimal gland enlargement. A possibility of underlying immune dysregulation syndrome was considered in view of long-standing chronic sinusitis, adenopathy and hepatosplenomegaly. Laboratory work up showed cytopaenias including coombs positive haemolytic anaemia (Hb 76 g/L (120–150)), mild neutropaenia of 1.05 × 10/L (normal 1.80–7.30) and lymphopaenia of 0.28 × 10/L (normal 1.30–8.00). Antinuclear antibody, anti-dsDNA and human immunodeficiency virus antibody was negative. The lacrimal gland biopsy showed atypical EBV positive T-cell lymphoid proliferation with features suggestive of chronic active Epstein–Barr virus (EBV) infection and serum EBV polymerase chain reaction was 825 000 copies/mL. Complement levels (C3, C4) were within normal range, as were her immunoglobulin levels (IgG, A, M, E but her IgG1 level was high). T-cell (CD3, CD4) and B-cell (CD19) counts were low while natural killer cell counts were normal. Whole exome sequencing was performed which identified a pathogenic Lipopolysaccharides-responsive beige-like anchor protein variant c.8473C>T p. (Arg2825Trp) that caused an amino acid change from Arg to Trp at position 2825. The child was homozygous while parents were carriers. What is the diagnosis for the child? (Answer on page 1284) Dr Gurinder Kumar 1 Dr Sara Belfaqeeh Dr Habibullah Eatamadi Dr Rajendran Nair Dr Gehad ElGhazali Departments of Pediatrics, Ophthalmology, Immunology-PALMS Sheikh Khalifa Medical City Abu Dhabi United Arab Emirates Fig. 1 Eyelid swelling and lacrimal gland swelling of the index child. doi:10.1111/jpc.14555