Summer Vacations not Only a Memory for Life, but Also a Rare Infection

Introduction: Rhinoscleroma is a rare, chronic, granulomatous disease that most frequently affects the upper respiratory tract, especially the nasal cavity and sometimes extends through the lower respiratory tract. Is associated with Klebsiella rhinoscleromatis, which is endemic in certain geographic regions namely Central America. The pathogenesis and risk factors remain unclear. Clinical case: We report a five years Old Portuguese boy, previously healthy, brought to the Emergency Department with epistaxis, without other accompanying signs or symptoms. The Otorhinolaryngologist (ORL) performed rhinoscopy and identified an intranasal bleeding mass. The MRI revealed an intranasal mass with extension to the ethmoid bone sinus, and performed biopsy. The histopathology was vital, making the diagnosis of Rhinoscleroma. The child had traveled abroad for the first time on vacations a year before to Dominican Republic. The bacteriologic exam identified a Klebsiella spp. sensible to the association of amoxicillin and clavulanic acid. Blood test performed excluded association of immunodeficiency. Since it’s a rare disease genetic study are under course. Monthly evaluation by ORL and pediatrician was performed which documented progressive reduction until total disappearing of the macro and microscopic lesion, and negative bacteriologic exam. Six months of antibiotic therapy were completed without any known secondary effects. The child remained asymptomatic up to the last visit, 3 months following treatment and has shown no evidence of recurrence. Conclusion: Globalization and free transit of people to areas far from origin countries here some rare diseases are endemic brings a new challenge to modern medicine. Sometimes vacations bring more than memories.

Analysis of Synaptic Proteins in the Cerebrospinal Fluid as a New Tool in the Study of Inborn Errors of Neurotransmission

Abstract In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiological and diagnostic purposes in investigation of inherited disorders of neurotransmission. Dopamine receptor type 2 (D2R), dopamine transporter (DAT) and vesicular monoamine transporter type 2 (VMAT2) were analysed in CSF samplesfrom 30 healthy controls (11 days to 17 years) by western blot analysis. Because VMAT2 was the only protein with intracellular localisation, and in order to compare results, GABA vesicular transporter, which is another intracellular protein, was also studied. Spearman’s correlation and Student’s t tests were applied to compare optical density signals between different proteins. All these synaptic proteins could be easily detected and quantified in the CSF. DAT, D2R and GABA VT expression decrease with age, particularly in the first months of life, reflecting the expected intense synaptic activity and neuronal circuitry formation. A statistically significant relationship was found between D2R and DAT expression, reinforcing the previous evidence of DAT regulation by D2R. To our knowledge, there are no previous studies on human CSF reporting a reliable analysis of these proteins. These kinds of studies could help elucidate new causes of disturbed dopaminergic and gabaergic transmission as well as understanding different responses to L-dopa in inherited disorders affecting dopamine metabolism. Moreover, this approach to synaptic activity in vivo can be extended to different groups of proteins and diseases.