Demineralization after balloon kyphoplasty with calcium phosphate cement: a histological evaluation in ten patients.

Purpose: Balloon kyphoplasty (BKP) with calcium phosphate cement (CPC) is increasingly being used for spinal surgery in younger patients. In routinely performed follow-up CT scans we observed considerable areas of demineralization in CPC processed vertebrae in several patients. To rule out infections or inflammations histological examinations were planned for these patients.

Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.

The autosomal dominantly inherited juvenile polyposis syndrome (JPS) leads to the development of multiple hamartomatous polyps in the gastrointestinal tract and is a precancerous condition. In a large family with a newly identified SMAD4 mutation (c.543delC), we describe the clinical manifestations of JPS.

Pneumatosis coli--an underrecognized lesion mimicking neoplastic disease.

Pneumatosis (cystoides) intestinalis is defined as the presence of gas in the bowel wall and can be found anywhere in the gastrointestinal tract. It may be harmless or life-threatening, depending on the etiology which includes infectious and drug-induced colitis, bowel ischemia and necrotizing enterocolitis. The lesion has additionally been described following endoscopy.

Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.

Pheochromocytomas are rare tumors of the adrenal gland occurring sporadically or as part of familial cancer syndromes. Here we report on the case of a pheochromocytoma due to the germline missense mutation c.491A>G (Q164R) in exon 3 of the von Hippel-Lindau gene in a girl as young as 2.

Neonatal congenital pancreatic cyst: diagnosis and management.

Congenital pancreatic cysts are extremely rare in newborns. The case of a neonatal congenital pancreatic cyst with pancreatitis is reported. The rapid increase in cyst size concomitantly with clinical symptoms prompted surgical management.

Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins.

After surgical repair of an aortic coarctation a term infant presented with severe pulmonary hypertension and cyanosis unresponsive to treatment including extracorporeal membrane oxygenation. The atypical clinical course became apparent once the accompanying diagnosis of congenital alveolar capillary dysplasia with misalignment of the pulmonary veins had been established at autopsy. In infants with congenital heart defects and with refractory pulmonary hypertension unexplainable on anatomic findings, a lung biopsy at the time of cardiac repair should be considered to avoid further therapies that would not alter the uniformly fatal course of this rare lung disorder.

Clinical, radiological, and pathological findings in four children with gastrointestinal stromal tumors of the stomach.

The incidence of gastrointestinal stromal tumors (GISTs) in children is exceptionally low. However, during the last decade these tumors attracted increasing attention, because they were found to express the cell surface transmembrane receptor kit (CD117) that has tyrosine kinase activity. This tyrosine kinase can be semi-selectively inhibited by signal transduction inhibitors such as imatinib mesylate (Glivec), which is a competitive inhibitor of c-kit, c-abl, platelet-derived growth factor receptor-alpha (PDGFR-alpha) and PDGFR-beta, and abl-related gene (arg).

[Erosive intervertebral joint lesions. A case of pigmented villonodular synovitis].

Pigmented villonodular synovitis (PVNS) is a rare proliferative lesion that can affect synovial membranes, tendon sheaths, and bursae. It is usually a monarticular disease of the lower extremities, and so far fewer than 30 cases of spinal involvement have been reported in the literature. We describe a patient with progressive lumbar pain and spinal claudication, in whom a CT scan of the lumbar spine revealed destruction fo facet joints L3 to L5.

Insulinoma of the pancreas with insular-ductular differentiation in its liver metastasis--indication of a common stem-cell origin of the exocrine and endocrine components.

We describe an insulinoma of the pancreas in a 56-year-old patient, which showed insular-ductular differentiation in its liver metastasis. Although the primary tumor was uniformly endocrine in nature with insulin production, the metastasis contained two distinct cell types in organoid arrangement. One cell type was insulin-positive and was arranged in islet-like structures; the other was insulin-negative but distinctly pan-cytokeratin and cytokeratin 7 positive and arranged in ducts.

[Acute appendicitis in non-contrast spiral CT: a diagnostic luxury or benefit?].

Purpose: To evaluate the diagnostic accuracy of thin collimated unenhanced spiral-CT in patients with clinically suspected acute appendicitis and to determine the impact on patient management and overall costs.

Method: Unenhanced focussed appendiceal spiral-CT was performed in 56 patients (23 women and 33 men) with clinically suspected acute appendicitis. Scans were obtained from the L4 level to the symphysis pubis using 5 mm collimation, 7.

Neuroblastoma screening in infants postponed after the sixth month of age: a trial to reduce "overdiagnosis" and to detect cases with "unfavorable" biologic features.

Background: Encouraged by Japanese reports of the benefits of screening 6 month-old infants for neuroblastoma, a neuroblastoma screening program was introduced in Austria in 1991. However, because of concerns related to "overdiagnosis" by screening at this age, the screening test was performed at a later age.

Methods: From March 1991 to February 1995 neuroblastoma screening was performed on filter paper urine specimens in 100,043 Austrian infants (median age 8.

Screening for neuroblastoma in late infancy by use of EIA (enzyme-linked immunoassay) method: 115000 screened infants in Austria.

The aim of this study was to investigate the feasibility of a neuroblastoma screening programme for children in late infancy, based on collaboration of general paediatricians and practitioners in Austria, using the technique of enzyme-linked immunoassay (EIA) for biochemical analyses. Analysis of catecholamine metabolites in spot urine samples by EIA with high performance liquid chromatography as a backup was undertaken. Austrian infants (median age 8.

[5 years neuroblastoma screening in Austria: rate of participation, results and a comparison with other screening areas].

In late 1990 a screening program for the early detection of neuroblastoma in infants was introduced in Austria. The program is performed on a voluntary basis in collaboration with general pediatricians and practitioners. Filter strips for urine collection are distributed to parents of infants aged seven to nine months on the occasion of a routine check up.

Angiotropic large cell lymphoma presenting as thrombotic microangiopathy (thrombotic thrombocytopenic purpura).

Background: Angiotropic large cell lymphoma is a rare lymphoproliferative disorder that affects vessels of almost all organs. Therefore, many different signs and symptoms can be observed and may delay a rapid diagnosis in these patients. However, no association between angiotropic large-cell lymphoma and thrombotic microangiopathy (TMA) has been reported so far.