Acute psychosis secondary to steroid responsive encephalopathy associated with autoimmune Hashimoto's thyroiditis

Approach to Hashimoto thyroiditis encephalopathy.     

"Thyrotoxic psychosis" associated with subacute thyroiditis

Severe psychiatric derangements are a rare manifestation of Graves disease or toxic goiter. An 18-year-old male college student was hospitalized with depression and psychotic behavior. He was found to have thyrotoxicosis due to subacute thyroiditis, as evidenced by a reduced radioactive iodine uptake, elevated thyroglobulin level, and spontaneous remission into a hypothyroid phase. His behavioral abnormalities resolved with progressive normalization of thyroid function. To our knowledge, this is the first reported case of the self-limited condition of subacute thyroiditis causing 'thyrotoxic psychosis' and serves to remind clinicians of this association when treating patients in clinical practice.     

Atrial fibrillation associated with hypokalemia due to primary hyperaldosteronism (Conn's syndrome)

Aldosterone is a major regulator of the body potassium stores through its role in potassium excretion by the kidney. However, it is unclear whether aldosterone affects transcellular distribution of potassium in atrial myocytes, and whether hypokalemia associated with primary hyperaldosteronism increases susceptibility to atrial fibrillation (AF). We report a case of a 58-year-old male with Conn's syndrome in whom symptomatic AF was related to hypokalemia.     

Novel presentation of autoimmune polyglandular syndrome II in a child with simultaneous Addison's disease,type 1 diabetes,and Hashimoto's thyroiditis: A case report

Providers should remain vigilant of autoimmune polyglandular syndrome type II in the context of persistent low blood sugar in type I diabetes. Correction of adrenal insufficiency is key for regulation of blood sugar and thyroid function.     

Erroneous results with routine laboratory testing for immunoglobulins due to interference from circulating immune complexes in a case of hyperviscosity syndrome associated with autoimmune disease

A patient with the hyperviscosity syndrome exhibited very high concentrations of intermediate to small circulating immune complexes (CIC), involving 40-50% of the IgG present, with IgG rheumatoid factor activity. We demonstrate that precipitation of CIC by polyethylene glycol in the reaction mixture caused interference with nephelometric methods for measuring IgM and IgA, and that failure of immunoglobulins to migrate, owing to molecular interactions, caused interference with radial immunodiffusion methods. Semiquantitative values for immunoglobulins were difficult to interpret on immunoelectrophoresis. As a result, IgM and IgA could only be quantitatively estimated by an end-point nephelometric approach that included a serum blank. Immunoelectrophoresis indicated that a large proportion of the immunoglobulins behaved as aggregates. Immunofixation electrophoresis did not reveal the presence of aggregates. The polyethylene glycol-IgG test provided an accurate assessment of the CIC concentration; the Raji cell and C1q-binding assays did not. Evidently, special techniques may be necessary for accurate determination of immunoglobulin concentrations when CIC concentrations are very high.     

Sheehan's syndrome associated with pancytopenia due to marrow aplasia; full recovery with hormone replacement therapy

We describe a 52-year-old woman with pancytopenia associated with Sheehan's syndrome, whose presenting feature was severe malaise and syncope after a psychological stress. Hormonal replacement therapy alone (with L-thyroxine and prednisolone) produced clinical and full haematological recovery. This is a very rare case of Sheehan's syndrome because the diagnosis was delayed for 27 years after delivery, and it was associated with pancytopenia.     

Passenger lymphocyte syndrome with severe hemolytic anemia due to an anti-Jk(a) after allogeneic PBPC transplantation

BACKGROUND: After allogeneic peripheral blood progenitor cell (PBPC) transplantation, a patient developed a severe hemolytic transfusion reaction due to passenger lymphocyte syndrome. CASE REPORT: A 50-year-old woman with secondary acute myeloid leukemia transforming from a myelodysplastic syndrome received an ABO-compatible PBPC graft from her HLA-identical sister. For prophylaxis of GVHD, the patient was treated with cyclosporine and methotrexate. Eighteen days after the transplant, the patient experienced a severe hemolytic transfusion reaction due to an alloantibody (anti-Jk(a)) produced by donor lymphocytes. RESULTS: The patient was typed as group A, Jk(a+) before transplantation; the donor was typed as group A, Jk(a-). On Day 18 after transplantation, the immunohematologic screening revealed a positive DAT (C3d 3+) and an alloanti-Jk(a). Hemolysis in the patient at that time was indicated by a drop in the Hb and an increase in the LDH level (maximum, 592 IU/L on Day 23). CONCLUSION: The course of hemolysis and the time of appearance of an alloantibody in this patient meet the criteria for passenger lymphocyte syndrome. In most cases, this syndrome is triggered by ABO system antibodies. This is the first reported case of passenger lymphocyte syndrome after PBPC transplantation that was due to an alloantibody that did not belong to the ABO system.     

The antigenic binding site(s) of antibodies to factor XII associated with the antiphospholipid syndrome

Phospholipid binding proteins, including factor XII (FXII), are known to be targeted by antiphospholipid antibodies (aPA). Factor XII antibodies (FXIIab) have been described in some patients with the antiphospholipid syndrome (APS) and have been shown to lead to reduced levels of FXII. The antigenic binding site(s) and the pathophysiological effects of FXIIab are unknown. In an attempt to elucidate the binding site of these antibodies, immobilized plasma kallikrein was used to cleave FXII into its 52-kDa heavy-chain (HCFXII) and 28-kDa light-chain (LCFXII) components. Plasma samples from 12 female patients with definite APS and FXIIab were investigated for the presence of antibodies to FXII, HCFXII and LCFXII. All but one patient's plasma reacted to FXII, HCFXII and LCFXII in a similar manner. One patient gave markedly reduced positivity to HCFXII and LCFXII, suggesting that the FXIIab in this patient had a higher affinity for the intact FXII molecule. To further investigate the antigenic binding site(s) of FXII, 150 biotinylated peptides of the known FXII sequence were synthesized using a Multipin(TM) peptide synthesis procedure. The IgG and IgM fractions of the 12 patients' plasma were purified by affinity chromatography. The synthesized peptides were captured on streptavidin plates and individual patients' purified FXIIab assayed against the peptides in a modified enzyme-linked immunosorbent assay (ELISA). Two regions were identified as possible antigenic binding site(s) for FXIIab: one in the growth factor domain and the other in the catalytic domain.     

Use of an endoscopic suturing device (the "ESD") to treat patients with gastroesophageal reflux disease, after unsuccessful EndoCinch endoluminal gastroplication: another failure

BACKGROUND: Endoluminal gastroplication, using the EndoCinch procedure, has emerged as a potential endoscopic antireflux therapy. Although initial results have been promising, the long-term durability of the treatment is uncertain due to suture loss. A new endoscopic suturing device, the "ESD," has been developed that promises excellent visibility and endoscopic control. The aim of this study was to evaluate prospectively the feasibility and efficacy of the ESD method after EndoCinch failure. METHODS: The study involved 20 patients with gastroesophageal reflux disease (GERD), who had been initially treated with an EndoCinch procedure, but had relapsed after a median of 7.5 months, with lost or dysfunctional sutures and with reflux symptoms that required proton pump inhibitor (PPI) treatment. Using the ESD, at least three plications were created at the gastroesophageal junction. Patients underwent endoscopy, 24-hour pH monitoring and esophageal manometry before treatment and 6 months afterwards. In addition, reflux symptoms as well as quality-of-life scores were assessed (using the SF-6 and GERD-HRQL scales). RESULTS: The ESD procedure (median procedure time 45 min) was performed successfully in all patients without major complications. After 6 months only one patient (5 %) still had all sutures in situ, while no remaining sutures could be detected in 3/20 (15 %). No significant changes in reflux esophagitis; 24-hour pH monitoring results (median pH < 4/24 h9.9 % vs. 12.3 %; P = 0.60); manometry findings (median lower esophageal sphincter pressure 7.2 mm Hg vs. 9.9 mm Hg; P = 0.22); PPI use; or reflux esophagitis could be detected after 6 months. While reflux symptoms improved (heartburn severity score 30 vs. 48, P < 0,05), no changes in quality-of-life scores were detected. CONCLUSIONS: Endoluminal gastroplication using the ESD is an easy and safe, but unfortunately ineffective procedure for endoscopic GERD treatment. Endoluminal gastroplication techniques clearly need refinements before these therapies can evolve as a treatment option for GERD patients.     

Recurrent subarachnoid haemorrhage due to upper cervical A. V.-angioma associated with metameric naevus flammeus (author's transl)]

The case is presented of a recurrent subarachnoid haemorrhage caused by an angiographically-proven spinal A. V. angioma of glomus type II at the C 1--2 level supplied by both vertebral arteries. The angioma was accompanied by a median naevus flammeus over the occipito-cervical region. The clinical differentiation between subarachnoid haemorrhage of cerebral and spinal origin is discussed and emphasis is placed on the significance of complete cerebral angiography for the detection of the sources of recurrent subarachnoid haemorrhage of undetermined origin.     

The critical early proinflammatory events associated with idiopathic pneumonia syndrome in irradiated murine allogeneic recipients are due to donor T cell infusion and potentiated by cyclophosphamide.

We have hypothesized that lung damage occurring in the peri-bone marrow transplant (BMT) period is critical for the subsequent generation of idiopathic pneumonia syndrome (IPS), a major complication following human BMT. The proinflammatory events induced by a common pre-BMT conditioning regimen, cyclophosphamide (Cytoxan(R)) (Cy) and total body irradiation, were analyzed in a murine BMT model. Electron microscopy indicated that Cy exacerbated irradiation-induced epithelial cell injury as early as day 3 after BMT. Allogenicity was an important contributing factor to lung injury as measured by lung wet and dry weights and decreased specific lung compliance. The most significant pulmonary dysfunction was seen in mice receiving both allogeneic T cells and Cy conditioning. IPS was associated with an influx of T cells, macrophages, and neutrophils early post-BMT. Hydroxyproline levels were not increased, indicating that the injury was not fibrotic early post-BMT. As early as 2 h after chemoradiation, host macrophages increased in number in the lung parenchyma. Continued increases in macrophages occurred if splenic T cells were administered with the donor graft. The expression of costimulatory B7 molecules correlated with macrophage numbers. Frequencies of cells expressing mRNA for the inflammatory proteins TNF-alpha, IL-1beta, and TGFbeta were increased. Cy accelerated the upregulation of TGFbeta and increase in host macrophages. The exacerbation of macrophage activation and severity of IPS was dependent on allogeneic T cells, implicating immune-mediated mechanisms as critical to the outcome of IPS. This demonstration of early injury after BMT indicates the need for very early therapeutic intervention before lung damage becomes profound and irreversible.     

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

The annual urinary screening of Japanese children above 3 yr of age has identified a progressive proximal renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to three X-linked proximal renal tubular disorders that are due to mutations in the renal chloride channel gene, CLCN5. We have investigated four unrelated Japanese kindreds with this tubulopathy and have identified four different CLCN5 mutations (two nonsense, one missense, and one frameshift). These are predicted to lead to a loss of chloride channel function, and heterologous expression of the missense CLCN5 mutation in Xenopus oocytes demonstrated a 70% reduction in channel activity when compared with the wild-type. In addition, single-stranded conformation polymorphism (SSCP) analysis was found to be a sensitive and specific mutational screening method that detected > 75% of CLCN5 mutations. Thus, the results of our study expand the spectrum of clinical phenotypes associated with CLCN5 mutations to include this proximal renal tubular disorder of Japanese children. In addition, the mutational screening of CLCN5 by SSCP will help to supplement the clinical evaluation of the annual urinary screening program for this disorder.