It is possible that some diabetic patients with aceruloplasminaemia are mistakenly diagnosed as having Type 1 diabetes mellitus, as they have reduced insulin secretion and develop diabetes at a younger age, before neurological abnormalities associated with aceruloplasminaemia are apparent. Therefore, aceruloplasminaemia should be considered in patients with insulin-dependent diabetes mellitus who develop progressive neurological abnormalities of unknown aetiology along with a microcytic hypochromic anaemia and retinal degeneration.
A 33-year-old manwas referred to our hospital because of intractable cellulitis in his left lower leg. He was diagnosed with agammaglobulinemia at the age of 6 years and had been receiving y-globulin supplementation since then. Laboratory examination revealed a markedly reduced number of B cells, decreased protein amount of Bruton's tyrosine kinase (BTK) in monocytes, and a single base substitution of C994^T(missense mutation of in BTKgene, confirming the diagnosis of X-linked agammaglobulinemia (XLA). The patient also had characteristic features of von Recklinghausen disease, such as numerous subcutaneous nodules, cafe-au-lait spots, Lisch nodules in the iris and spinal scoliosis. Biopsy of a subcutaneous nodule confirmed a neurofibroma. Although the influence of XLAon the development of von Recklinghausen disease is unknownfor the moment, this is, to our knowledge, the first report of a patient with XLAwho also developed von Recklinghausen disease.
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