Drug-induced hypersensivity syndrome associated with Epstein-Barr virus infection: a pediatric case report.

Drug hypersensitivity syndrome is an acute, severe, multi-organ systemic reaction, usually developing with aromatic antiepileptic drugs. Interaction between drug-induced hypersensivity syndrome and viral infections is debated. We report the first case of severe carbamazepine-induced hypersensivity syndrome associated with Epstein-Barr virus infection in a child.

Bilateral epididymitis associated with Mycoplasma pneumoniae infection.

We describe a 7-year-old boy with bilateral epididymitis associated with Mycoplasma pneumoniae infection. The involvement of male genitalia presenting as the only manifestation of M. pneumoniae infection is rare.

Headache in an Italian pediatric emergency department.

The objective of this study was to assess epidemiology, diagnostic work-up, treatment and follow-up of children presenting to emergency department (ED) with headache. Records of visits for non-traumatic headache to the ED of a pediatric hospital over a period of 12 months were retrospectively reviewed. Headache center charts were analyzed one year after.

Benign paroxysmal torticollis of infancy. A case report.

Benign paroxysmal torticollis of infancy is a benign, rare, probably under-recognised disorder, characterized by recurrent episodes of head tilting. The diagnosis is primarily one of pattern recognition and exclusion of alternatives conditions; other symptoms, such as vomiting, pallor and eyes' rotation, may be associated with or rapidly follow the attack, leading to misdiagnosis of this disease. The exact pathogenesis of benign paroxysmal torticollis is not clear, but a close relationship with childhood periodic syndromes is supposed.

Kikuchi-Fujimoto disease is a rare cause of lymphadenopathy and fever of unknown origin in children: report of two cases and review of the literature.

Kikuchi-Fujimoto disease, a benign and unusual self-limiting histiocytic necrotizing lymphadenitis of unknown origin, should be included in the differential diagnosis of lymphadenopathy and fever of unknown origin. This disease mostly affects young Asian women and has rarely been reported in children, thus remaining a poorly recognized entity that is frequently confused with malignant lymphoma. The authors describe two children with Kikuchi-Fujimoto disease, with particular attention to diagnostic approach and clinical and histologic features of the disease.

Hb Trento: an elongated C-terminal beta chain due to a new frameshift mutation [beta144 (-A)].

An elongated C-terminal hemoglobin variant, due to the deletion of nucleotide A in codon 144 (nucleotide 63600 GenBank entry UO1317) was found in a 31-year-old woman from Trento (northeastern Italy). This deletion led to the replacement of lysine at beta144 by a serine residue, the disappearance of the stop codon at position 147, and the presence of 12 additional residues, identical to those observed in Hbs Saveme, Tak and Cranston, which result from a similar mechanism. Hb Trento, amounting to 29% of the total hemoglobin, was unstable and had, as the other variants of this group, an increased oxygen affinity.

Use of recombinant granulocyte colony-stimulating factor in Fanconi's anemia.

Background And Objective: Granulocyte colony-stimulating factor (G-CSF) has been shown to improve the neutropenic status of patients with bone marrow failure. The side effects in prolonged treatment still need to be determined.

Design And Methods: We have studied the efficacy and the long-term side effects of G-CSF in four patients with Fanconi's anemia and severe neutropenia.

Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation.

Fas (CD95) is a transmembrane molecule that induces programmed cell death (PCD) of lymphocytes. We examined its function in children with chronic thrombocytopenia, serum autoantibodies, and lymphadenopathy and/or splenomegaly. We found that T-cell lines from six of seven patients with this autoimmune/lymphoproliferative disease (ALD) were relatively resistant to PCD induced by monoclonal antibodies to Fas.