Alpha mannosidosis is an ultrarare pathology with variable phenotypic manifestations, characterized by the deficiency of lysosomal alpha mannosidase which causes accumulation of neutral oligosaccharides. Until recently, the hematopoietic stem cell transplantation was the only clinical feasible therapeutic option. Only in 2018, the European Medicines Agency's committee approved the recombinant enzyme velmanase alfa for long‐term treatment of non‐neurological manifestations in mild and moderate forms of alpha‐mannosidosis. In this study, the very early biochemical effects of enzyme replacement therapy in in a 7‐month‐old patient with alpha‐mannosidosis were described. Velmanase alpha was administered as supporting therapy awaiting for hematopoietic stem cell transplantation, the treatment chosen for the patient because of the early onset form. The results showed that the enzyme replacement therapy was able to reduce the content of three different mannosyl‐oligosaccharides monitored by tandem mass spectrometry after 2 months of treatment. In particular, the mean relative changes from baseline values were −67% in urine and −53% in serum at the latest observation. The study also showed that the enzymatic activity detected in serum 1 week after the first infusion was four times higher than the normal values and constant in the following points of observation. These findings led us to assume that velmanase alfa might be biologically active in this young patient.

Rothia mucilaginosa, previously known as Stomatococcus mucilaginosus, is a Gram-positive microrganism, which is a part of normal flora of the human oral cavity and upper respiratory tract [1]. R. mucilaginosa has been recognized as an emerging opportunistic pathogen, especially in immunocompromised or neutropenic patients [2].The identification of this bacterium may be difficult due to the similarity to other Gram-positive cocci. However, the role of R. mucilaginosa in a variety of opportunistic infections has been repeatedly reported over the last few years, as a consequence of better knowledge of such microbiologic aspects. We describe a case of R. mucilaginosa bacteraemia in a patient with Shwachman-Diamond syndrome (SDS).A 3-year-old boy with SDS diagnosed at the age of 5 months was referred to our unit for fever, vomiting and severe diarrhoea over the last 2 days. The child was on regular prophylactic treatment with oral amoxicillin/ clavulanate (40 mg/kg/day, for the first 3 days weekly) and intramuscular granulocyte colony stimulating factor (GCSF) (6 mcg/kg daily). At the admission, a moderatesevere dehydration was present. The routine laboratory tests were normal, with exception of a peripheral WBC count of 20,500/μl (91% neutrophils, 5% lymphocytes, 4% monocytes), platelet count of 99,000/μl, and mild increase of alanine aminotransferase 73 U/l. Intravenous hydration and broad spectrum antibiotic therapy (ampicillin/sulbactam 50 mg/kg t.i.d. and netilmicin 6 mg/kg daily) were started, and treatment with GCSF was continued. Blood culture was negative. The faecal culture was positive for Salmonella typhimurium which was sensitive to ampicilin/sulbactam. The patient gradually improved and was discharged home at hospital day 9 with regular bowel movements and normal laboratory tests. No treatment was prescribed at home.Four days later, the child was admitted again to our unit for recurrence of high fever and mild diarrhoea over the last 48 h. Physical examination was normal; the routine laboratory tests were normal except for hemoglobin concentration of 10.3 g/dl, peripheral WBC count of 9,100/μl (74% neutrophils, 20% lymphocytes, 6% monocytes), and C-reactive protein of 1.1 mg/dl. Intravenous ampicillin/ sulbactam and netilmicin therapy was empirically administered until the result of blood culture was known. Two blood cultures grew microrganisms which were identified as R. mucilaginosa on the basis of the following characteristics: Gram-positive cocci in clusters and tetrads, weakly catalase-positive colonies that adhered strongly to the agar surface, glucose fermentation, failure to grow on nutrient agar containing 5% NaCl, poor or no growth on Mueller-Hinton agar, presence of mucoid capsule, and ability to hydrolize gelatine and esculin [3]. In the API 32 Staph system (API system, bioMérieux, Marcy l'Etoile, France) typical profile was 063135200. The MICs were determined by the standard agar dilution method [4]. Mueller-Hinton agar supplemented with 5% sheep blood (Becton Dickinson Diagnostic Systems, S...

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