Case report: Gaucher disease in trepanobiopsy of 16yo woman examined for suspected myelodysplastic syndrome.

Gaucher disease is an autosomal recessive disease belonging to the so-called storage diseases. More than 300 mutations of the GBA1 gene encoding the β-glucocerebrosidase enzyme are known. It is a very rare disease in the Czech Republic. Currently 35 patients are treated. In our case report, we present the case of a 16 year old female patient attending the Clinic of Pediatric Medicine at the University Hospital in Ostrava. Since 2007, the patient has suffered prolonged thrombocytopenia, at the time with progression, and splenomegaly, which has not been further investigated. Trepanobiopsy was sent to the Department of Pathology with suspicion of myelodysplastic syndrome in May of 2018. In the biopsy examination, the individual bloodline did not show dysplastic features and the number of blasts was not increased. The marrow interstitium was 70% permeated with gaucher cells with intraplasmatic fibrous material. Cells were in the appearance of „crumpled paper“ and expressed CD68 in immunohistochemical stain and in histochemical examination of PAS and iron (Fe) staining. Based on a morphological finding, Gauchers disease was suspected. Repeated bone marrow aspirates were subsequently captured by gaucher cells, and a next biochemical examination showed a β-glucocerebrosidase enzyme decrease of activity. Gaucher disease is a progressive disease that requires early diagnosis with the onset of therapy.

[Severe course of influenza B complicated by rhabdomyolysis and acute respiratory failure resulting in death].

Influenza is an acute viral disease that causes influenza A, B, C. Clinically, flu is typically characterized by fever and respiratory symptoms, sometimes with the need for mechanical ventilation, less frequently by gastrointestinal symptoms and muscle problems; severe are cases with central nervous system involvement. The most common complication of influenza is secondary bacterial infection, typically pneumonia, which is most frequently caused by pneumococci and staphylococci. Every year, thousands of patients die of influenza or its complications. In the Czech Republic, namely the Moravian-Silesian Region, influenza B virus dominated the 2017/2018 flu season. Presented is a case of a 51-year-old male with influenza B as an etiologic agent of rapidly progressing muscle weakness and laboratory tests showing rhabdomyolysis and significantly elevated muscle enzyme and aminotransferase, resulting in acute respiratory failure and death.