A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome.

A 12-year-old girl presented with a first prolonged syncope. She was successfully resuscitated by external defibrillation after recording torsade de pointes tachycardia. Repeated electrocardiograms and a 12-channel Holter monitoring showed an intermittent prolongation of the QT interval. Genetic analysis identified a heterozygous point mutation in the KCNH2 gene, which is thought to be associated with a rather mild clinical phenotype of the long QT syndrome.

Techniques for assessing cardiac output and fetal cardiac function.

Fetal echocardiography was initially used to diagnose structural heart disease, but recent interest has focused on functional assessment. Effects of extracardiac conditions on the cardiac function such as volume overload (in the recipient in twin-twin transfusion syndrome), a hyperdynamic circulation (arterio-venous malformation), cardiac compression (diaphragmatic hernia, lung tumours) and increased placental resistance (intrauterine growth restriction and placental insufficiency) can be studied by ultrasound and may guide decisions for intervention or delivery. A variety of functional tests can be used, but there is no single clinical standard. For some specific conditions, however, certain tests have shown diagnostic value.

Case report: severe gastrointestinal inflammation and persistent HHV-6B infection in a paediatric cancer patient.

Lymphotropic herpesviruses such as human herpesvirus type 6 (HHV-6) have enhanced pathogenicity in some immunocompromised hosts, such as transplant recipients and HIV-infected patients. The clinical relevance of HHV-6 infections in cancer patients undergoing conventional cytotoxic therapy is undetermined, however. Here we report on a 10-month-old boy with an anaplastic astrocytoma, who acquired an HHV-6 variant B infection during chemotherapy. HHV-6B infection caused or triggered severe gastrointestinal inflammation with intractable diarrhoea and failure to thrive over several months. The clinical symptoms were associated with pronounced (CD4) lymphopenia and a marked increase in serum immunoglobulin A levels. After unsuccessful therapy with ganciclovir and foscarnet, combined antiviral and anti-inflammatory treatment with cidofovir and prednisolone controlled the HHV-6 infection and enabled resolution of clinical symptoms.

Painful rash and swelling of the limbs after recurrent infections in a teenager: polyarteritis nodosa.

UNLABELLED: Polyarteritis nodosa is a rare disease in childhood and adolescence that is difficult to diagnose clinically. We report on a 17-y-old girl presenting with a history of recurrent infections of the upper respiratory tract and conjunctivitis followed by a painful rash on the upper and lower extremities resembling erythema nodosum. The diagnosis of polyarteritis nodosa was proven by skin biopsy. Therapy with intravenous immunoglobulins failed, but with systemic steroids she responded promptly. CONCLUSION: Polyarteritis nodosa is a differential diagnosis in adolescents presenting with fever and an erythema nodosum-like rash.

[Drug interactions of tacrolimus]. / Arzneimittelinteraktionen von Tacrolimus.

Allogeneic hematopoetic stem cell transplantations can be complicated by a graft-versus-host disease (GvHD), i.e., immunocompetent cells from the transplanted bone marrow act against solid organs of the recipient. A GvHD is treated with immunosuppressants. Consequently, further drugs are required, for example in order to prevent infections and result in in polymedication of those patients with a risk of drug interactions. In this case report, drug interactions between tacrolimus and concomitant therapy in a stem-cell-transplanted patient are discussed.

Recurrent atrial ectopic tachycardia following chemotherapy with ifosfamide.

In most pediatric tumors, particularly sarcomas, cyclophosphamide or ifosfamide represent essential first-line chemotherapeutic agents. Whereas cyclophosphamide is known to be associated with a well-defined cardiomyopathy, only a few cardiac complications following ifosfamide chemotherapy have been observed to date. Here we report a patient treated for Ewing sarcoma with multiple pulmonary and osseous metastases who repeatedly developed a supraventricular tachyarrhythmia following administration of ifosfamide as part of a polychemotherapy regimen.

Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA.

Pearson marrow-pancreas syndrome is a usually fatal disorder that involves the hematopoietic system, exocrine pancreas, liver, kidneys, and often presents clinically with failure to thrive. We report a 5-year-old patient who developed, in addition to the typical features of Pearson syndrome, worsening cardiac function, mainly affecting the left ventricle. The latter finding is particularly interesting because cardiac involvement has not yet been regarded as a major feature of Pearson syndrome. The diagnosis was proved by the finding of so far undescribed pleioplasmatic rearrangement of mitochondrial (mt)DNA (loss of 5,630 bp, 70% deleted and duplicated mtDNA) in blood cells. Our report demonstrates that patients with Pearson syndrome may also have impaired cardiac function. Thus, Pearson syndrome should be considered in the differential diagnosis of patients with left ventricular dysfunction of unknown origin and other clinical findings suggestive of a mitochondrial disease.