Progressive myeloneuropathy with symptomatic anaemia.

Hypocupremia is a rare and under-recognised cause of bone marrow dysplasia and myeloneuropathy. A 47-year-old Caucasian woman had progressive ascending peripheral neuropathy and gait ataxia over 3 months and fatigue, dyspnoea and unintentional weight loss over 8 months. She had profound macrocytic anaemia and neutropenia. Initial workup included normal serum vitamin B12 Bone marrow biopsy was suggestive of copper deficiency. Serum copper levels were later confirmed to be undetectable. The patient received oral copper repletion which resulted in complete normalisation of haematological abnormalities 16 weeks later. However, neurological deficits persisted. This case describes a delayed diagnosis of hypocupremia as initially suggested through invasive testing. Associating myeloneuropathy with cytopenia is imperative for accurate and prompt diagnosis of hypocupremia, which can be confirmed by serum analysis alone. Developing an accurate differential diagnosis can help prevent unnecessary procedures. Furthermore, initiating prompt copper repletion prevents further neurological impairment. Neurological deficits are often irreversible.

Gastric MALT lymphoma refractory to Helicobacter pylori antibiotic therapy.

Gastric mucosa-associated lymphoid tissue lymphoma is a rare clonal B-cell neoplasm that is usually associated with Helicobacter pylori infection. The presence of H. pylori should be confirmed via special stains and/or immunohistochemistry of gastric biopsies from multiple anatomic sites of the stomach. Mucosa-associated lymphoid tissue lymphoma is diagnosed with histopathologic examination and positive immunohistochemical staining for certain B-cell markers. Ancillary testing should be performed to determine any genetic abnormalities in H. pylori that increases its virulence. We report the case of a 49-year-old woman with recurrent epigastric pain and vomiting found to have chronic H. pylori gastritis despite appropriate rounds of treatment with first-line therapy. She was diagnosed with mucosa-associated lymphoid tissue lymphoma via histopathologic examination. She ultimately required oncological treatment due to H. pylori infection refractory to antibiotic treatment.

Antibody-Negative Relapse of Goodpasture Syndrome with Pulmonary Hemorrhage.

Goodpasture syndrome is a rare autoimmune disease comprising antiglomerular basement membrane (anti-GBM) crescentic glomerulonephritis and pulmonary capillaritis with circulating anti-GBM antibodies. Rarely, antibody-negative cases have been described. We report a young, African American adult woman admitted with flank pain and hematuria with laboratory testing and kidney biopsy demonstrating anti-GBM crescentic glomerulonephritis with elevated anti-GBM antibody levels. She received treatment but remained dialysis-dependent. She was seronegative and clinically stable until she presented 8 months later with dyspnea and hemoptysis requiring mechanical ventilation. Bronchoscopy revealed diffuse alveolar hemorrhage. She was treated for relapse of Goodpasture syndrome. However, anti-GBM antibodies were undetectable. This case emphasizes prompt diagnosis and treatment of Goodpasture syndrome to preserve renal function. Additionally, clinical manifestations of Goodpasture syndrome and its degree of activity do not necessarily correlate with the actual antibody titer on relapse. Clinicians should have enhanced awareness of this atypical presentation of a rare disease.

Pulmonary nodular lymphoid hyperplasia (pulmonary pseudolymphoma): the significance of increased numbers of IgG4-positive plasma cells.

On the basis of an initial case, we hypothesized that IgG4-positive plasma cells may be increased in pulmonary nodular lymphoid hyperplasia (PNLH) compared with other lymphoid proliferations of the lung. Six cases of PNLH, 9 cases of low-grade B-cell lymphoma of the bronchus-associated lymphoid tissue (BALT), 8 cases of intraparenchymal lymph nodes, 8 cases of either primary or secondary follicular bronchiolitis, and 4 cases of lymphocytic interstitial pneumonitis were stained by immunohistochemical analysis for IgG4 and IgG. The mean number of IgG4-positive and IgG-positive plasma cells and the IgG4/IgG ratio were determined from a manual count of images from 3 separate high-power fields (hpf) of areas showing the highest numbers of stained cells, respectively. The mean number of IgG4-positive plasma cells and the IgG4/IgG ratio were significantly increased in PNLH (IgG4=78/hpf, IgG4/IgG=0.35) compared to low-grade lymphoma of BALT (IgG4=4/hpf, P=0.02; IgG4/IgG=0.03, P=0.005), intraparenchymal lymph nodes (IgG4=7/hpf, P=0.03; IgG4/IgG=0.06, P=0.007), follicular bronchiolitis (IgG4=0/hpf, P=0.02; IgG4/IgG=0, P=0.004), and lymphocytic interstitial pneumonitis (IgG4=2/hpf, P=0.02; IgG4/IgG=0.06, P=0.007). These findings support our current understanding of PNLH as a distinct form of reactive lymphoid proliferation, potentially aid in its distinction from low-grade B-cell lymphoma of BALT, and raise the possibility that PNLH may belong within the family of IgG4-related sclerosing diseases.

Subcutaneous Panniculitis-like T-cell lymphoma in two pediatric patients: an HIV-positive adolescent and a 4-month-old infant.

Subcutaneous Panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of childhood non-Hodgkin lymphoma. Subcutaneous Panniculitis-like T-cell lymphoma has an aggressive variant associated with the hemophagocytic syndrome (HPS). Patients without HPS show resolution of the disease with prednisone or immunosuppressive therapy unlike other T-cell lymphomas. One HIV-positive adolescent and one infant with multiple subcutaneous masses are presented and the literature is reviewed. Lesional cells were consistent with SPTCL alpha-beta type. Our cases, without HPS, showed complete resolution of their lesions when treated with non-aggressive therapies. Patients with SPTCL alpha-beta should be treated conservatively.

Adult leukemic synovitis is associated with leukemia of monocytic differentiation.

BACKGROUND: Leukemic synovitis is a rare complication of adult myeloid leukemias characterized by joint pain and swelling. It is important to recognize this diagnostic challenge as it may be the initial manifestation of leukemia or of relapse. METHODS: A retrospective search of patient files from 2 teaching hospitals identified 4 adult patients who presented with large joint arthritis and concurrent or subsequent leukemic synovitis. All patients presented with inflammatory arthritis of large joints, and leukemic synovitis was identified by the presence of leukemic cells in the synovial fluid or infiltrating the synovial membrane seen at biopsy. RESULTS: A leukemia of monocytic origin-acute myelomonocytic leukemia or chronic myelomonocytic leukemia-was diagnosed in all 4 patients. In 2 cases, leukemic synovitis was the initial manifestation of leukemia. In the third case, it was the first sign of relapse, and in the remaining case, it developed shortly after diagnosis of leukemia. All patients had either osteoarthritis or rheumatoid arthritis. One patient was diagnosed simultaneously with osteoarthritis and leukemia. The remaining patients had a prior history of arthritis. CONCLUSIONS: Adult leukemic synovitis occurs in association with leukemias of monocytic differentiation. Data presented here, and review of isolated case reports, support this association. The finding of large joint arthritis as a comorbidity in these 4 cases raises questions about the role of antecedent arthritis as a predisposing factor in the pathophysiology of leukemic synovitis.