Splenic tuberculosis in a patient with newly diagnosed advanced HIV infection.

The extra-pulmonary tuberculosis (TB) constitutes to about 20% of all TB cases. Among extra-pulmonary form, splenic TB is very rare clinical condition especially as initial manifestation in a developed country. Diagnosis of splenic TB is challenging because it presents no specific symptoms or typical imaging findings and microbiological confirmation is not straight forward. We describe the case of a 55 year old Italian female with advanced HIV infection whose first AIDS clinical manifestation was a TB splenic abscess.On CT, the lesion was multilocular, hypovascular, 34 mm large, and presented contrast enhancement and a spoke wheel pattern; it was initially considered a cystic formation of parasitic nature. In this patient clinical manifestations were nonspecific (nightly fever, weight loss, and fatigue); as diagnostic imaging could not pinpoint the underlying etiology, microbiological and molecular examinations of spleen abscess drainage proved pivotal for the diagnosis. The patient improved clinically with antitubercular therapy. The rarityof splenic tuberculosis in an European patient coupled with the involvement of the spleen in isolation and outside the "miliary" setting prompted us to report this case.

Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

BACKGROUND AND PURPOSES: To determine the prevalence of SLC2A1 mutations in children with early-onset absence epilepsy (EOAE) and to investigate whether there were differences in demographic and electroclinical data between patients who became seizure-free with anti-epileptic drug (AED) monotherapy (group I) and those who needed add-on treatment of a second AED (group II). METHODS: We reviewed children with EOAE attending different Italian epilepsy centers. All participants had onset of absence seizures within the first 3 years of life but otherwise conformed to a strict definition of childhood absence epilepsy. Mutation analysis of SLC2A1 was performed in each patient. RESULTS: Eighty-four children (57 in group I, 27 in group II) fulfilled the inclusion criteria. No mutation in SLC2A1 was found. There were no statistical differences between the two groups with regard to F/M ratio, age at onset of EOAE, early history of febrile seizures, first-degree family history for genetic generalized epilepsy, duration of AED therapy at 3 years after enrollment, use of AEDs at 3 years, failed withdrawals at 3 years, terminal remission of EOAE at 3 years, and 6-month follow-up EEG data. Mean duration of seizures/active epilepsy was significantly shorter in group I than in group II (P = 0.008). CONCLUSIONS: We demonstrate that in a large series of children with rigorous diagnosis of EOAE, no mutations in SLC2A1 gene are detected. Except for duration of seizures/active epilepsy, no significant differences in demographic and electroclinical aspects are observed between children with EOAE who responded well to AED monotherapy and those who became seizure-free with add-on treatment of a second AED.