Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.

We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.

Cryopyrin-associated periodic syndrome.

Cryopyrin-associated periodic syndromes (CAPS) are characterized by apparently unprovoked attacks of fever, rashes, and musculoskeletal and sensorineural inflammation accompanied by high acute-phase reactants. Excessive interleukin-1 (IL-1) signaling appears to be a constant feature in the pathomechanism of the disease, driven by a gain-of-function mutation in the NLRP3 gene. Herein, we present the case of a 9-month-old boy with recurrent nonpruritic rashes and episodes of fever.

Nephropathia epidemica (puumala virus infection) in Austrian children.

From 2000 to 2007, 19 Austrian children (aged 6-18 years) had serologically verified nephropathia epidemica. Common clinical features were abdominal/flank/back pain, fever, nausea, vomiting, headache, and transient visual disturbances. Acute renal failure was present in 18 (95%) patients.

Treatment for soft tissue sarcoma in childhood and adolescence. Austrian results within the CWS 96 study.

Objective: The aim of the CWS 96 Study was to achieve an optimal treatment in children and adolescents with soft tissue sarcoma (STS) implementing a further refinement of risk-adapted allocation to chemotherapy, surgery and radiotherapy.

Methods: Treatment stratification was based on tumour histology, TNM status, postsurgical stage, localisation and age. Local tumour control was ensured by surgery and risk-adapted radiotherapy.

[Scintigraphic findings in a patient with sickle-cell thalassemia and recurrent pain attacks].

The case of an eight years old African boy who suffers from sickle cell-thalassemia is presented. In the course of the disease frequent pain attacks occurred within the abdomen and extremities, recently also within the trunk. Local pain, at some occasions in combination with local swelling and always positive laboratory parameters for inflammation, hindered a solely clinical differentiation between bone infarcts and osteomyelitis.