A 42-year-old woman died after an episode of anaphylaxis associated with a raised serum histamine level. A diagnosis of systemic mastocytosis was established, with lymphadenopathy and hepatosplenomegaly, not associated with the usually pre-existing skin lesions of urticaria pigmentosa.

Malignant histiocytosis (MH) is a rare hematologic malignancy, especially in the first decade of life. The disease is clinically characterized by fever, hepatosplenomegaly, lymphadenopathy, pancytopenia and jaundice, and histologically by systemic proliferation of malignant histiocytes and hemophagocytosis. The prognosis is poor and often the diagnosis is not made before death. Because of ...

Though a diverse array of teaching methods is now available, bedside teaching is arguably the most favoured. Students like it because it is patient-centred, and it includes a high proportion of relevant skills. It is on the decline, coinciding with declining clinical skills of junior doctors. Several factors might account for this: busier hospitals, broader roles of clinicians, competing teachi...

BACKGROUND Niemann-Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann-Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over v...

Introduction and Aim: Gaucher disease (GD) is an autosomal recessive ailment caused due to mutations in the GBA1 gene, encoding for lysosomal enzyme, glucocerebrosidase. The aim was evaluate clinical, biochemical, molecular parameters associated with this disease, as well identify symptoms covariables thought be most diagnostic of early GD presentation, allowing diagnosis management. Methodolog...

Background: Budd Chiari syndrome (BCS) is obstruction of venous outflow at any level from the small hepatic veins to right atrium. The etiologies BCS are multifactorial, prothrombotic conditions most common. Ultrasonography with doppler, CT and MR angiography diagnostic. Treatment modalities anticoagulants, angioplasty, transjugular intrahepatic portosystemic shunt (TIPS), thrombectomy liver tr...

Currently the majority of malaria cases in Europe are imported by international travellers and immigrants. Typical clinical signs recurrent fever, hepatosplenomegaly haemolytic anaemia. Abdominal pain is not a specific sign malaria. We present case three-day 17-year-old Indian citizen who was admitted to Ternopil Regional Children’s Hospital with fever severe abdominal pain. The peculiarity thi...