Nodular pulmonary lesions in children after autologous stem cell transplantation: a source of misinterpretation.

In children with malignant disorders, autologous haematopoietic stem cell transplantation (HSCT) represents a therapeutic option, but several possible complications, such as life-threatening pulmonary disease, make appropriate diagnostic procedures essential. We describe two cases with bronchiolitis obliterans with organizing pneumonia after HSCT, with a brief review of important differential diagnoses.

Selective IgA deficiency in children with recurrent parotitis of childhood.

Recurrent parotitis of childhood is defined as the relapsing form of juvenile (idiopathic) parotitis and represents a rare inflammatory disorder of the parotid gland with potentially significant morbidity. We reviewed the charts of patients who were diagnosed with inflammatory parotid diseases in our institution between 1992 and 2002. There were 91 patients presenting with juvenile parotitis (1 of 6117 of all clinical visits). Of these 91 cases, 23 patients (28%) had the relapsing form of juvenile parotitis, and the median number of episodes was 5 (range, 2-20). Laboratory investigations revealed that 5 patients had selective IgA deficiency. The prevalence (22%) is different from the cumulative prevalence of IgA deficiency in a healthy population (0.3%; P < 0.001).

Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma.

We report an 11-year-old girl who presented with a painless unilateral enlargement of the nasal bridge. Because of multiple café-au-lait spots and a positive family history, neurofibromatosis 1was diagnosed. On a computed tomographic scan, a unilocular radiolucency measuring 1.2 x 2 cm was seen in the anterior wall of the maxillary sinus, which was surgically removed. Histology revealed a central giant cell granuloma. Hyperparathyroidism, which can present with an osseous tumor and similar histology, was excluded. Molecular analysis uncovered a novel splice mutation (A4268G) in this neurofibromatosis 1 family, affecting our patient as well as her mother and brother. This article focuses on the variability of the neurofibromatosis 1 phenotype in this family and the possible relationship between central giant cell granuloma and neurofibromatosis 1.

Severe anemia owing to occult pulmonary hemorrhage: a diagnostic pitfall.

The purpose of this paper is to increase the awareness about pulmonary hemorrhage as a possible cause of microcytic hypochromic anemia and to delineate diagnostic difficulties and possible pitfalls. An instructive case of anemia of unclear origin referred to our institution for a hematologic workup is presented. Microcytic hypochromic anemia owing to repeated occult alveolar hemorrhages was the only clinical sign of idiopathic pulmonary hemosiderosis in this case. The laboratory finding constellation in such cases may be misleading and may lead to misinterpretation. Awareness about this condition among pediatricians and hematologists can optimize and accelerate the diagnostic process.

Mediastinal mass in childhood T-cell acute lymphoblastic leukemia: significance and therapy response.

BACKGROUND: T-cell acute lymphoblastic leukemia (T-ALL) accounts for approximately 10-13% of childhood ALL cases. Patients with T-ALL frequently present with unfavorable features at diagnosis and thus are considered to have a higher risk to relapse. Within the last 10 years, the previously dismal prognosis of this ALL subtype has been improved by intensified chemotherapy. However, 30-40% of patients still relapse, so that additional prognostic factors such as the local response of the mediastinal mass to therapy might allow defining the patients at risk in a better manner. PROCEDURE: A retrospective analysis of 116 Austrian patients with T-ALL was performed to assess whether an initial mediastinal mass (70/116) and its response to chemotherapy as measured by thoracic X-rays (32/70) might predict outcome. RESULTS: Neither patients with a mediastinal tumor at the time of diagnosis nor patients with an incomplete response on day 35 or 70 of therapy had a worse prognosis, as compared with the group of patients with no initial tumor and complete regression on day 35 and 70. CONCLUSIONS: We failed to show that in children with T-ALL residual mediastinal tumors are of prognostic relevance. This might suggest that incomplete local response is not necessarily an indication for treatment intensification such as local irradiation, second-look operation, or high-dose chemotherapy with bone marrow rescue. However, due to the relatively small number of patients analyzed, our results have to be validated prospectively on a larger cohort of patients in future clinical trials.