Cpid 4: A Case of Recurrent Onychomycosis Without Autoimmunity

Abstract

We present a case of a 21-year-old male diagnosed with difficult to treat idiopathic thrombocytopenia and autoimmune haemolytic anaemia at the age of 14. He initially improved with high doses of oral prednisone however relapsed at the age of 16, requiring multiple immunosuppressive agents, intravenous immunoglobulins (IVIG), splenectomy and Eltrombopag to induce remission. He was noted to have hypogammaglobulinemia and low memory B cells, however ongoing IVIG therapy precluded vaccine studies and functional antibody deficit could not be demonstrated.Five years later he presented to hospital with bilateral sixth nerve palsies, raised intracranial pressure and new, widespread lymphadenopathy. An inguinal lymph node biopsy revealed non-caseating granulomas. Although there was an initial resolution of ocular symptoms with high doses of prednisone, our patient re-presented 3 weeks later with bilateral lower limb weakness and several falls. MRI spine imaging revealed symmetrical granulomatous inflammation in the nerve roots of the cauda equina. Reexamination of the inguinal lymph node with further immunochemistry analysis revealed intact lymphoid tissue architecture and presence of plasma cells.Sarcoidosis is an idiopathic, multi-system disorder that is characterised by non-caseating granulomas that are histologically indistinguishable from the lesions present in the granulomatous variant of common variable immunodeficiency. As the clinical features of the two disorders can also significantly overlap, the presence of plasma cells and normal architecture in the lymph node can be helpful in making the diagnosis. We discuss a rare case of neurosarcoidosis involving the peripheral nervous system and further outline diagnostic and management dilemmas. Background: Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder associated with immune deficiency and cancer susceptibility caused by a defect in the ataxia-telangiectasia mutated (ATM) gene resulting in impaired DNA repair. Lymphoma and leukaemia is the most commonly associated malignancy with childhood AT.