Gaucher's disease

The article presents a rare clinical case of Gaucher's disease, a hereditary disease that belongs to lysosomal accumulation diseases. A 36-year-old patient was admitted to the clinic with complaints of pain in the left half of the abdomen, pain in the chest, cough with yellow sputum, difficulty breathing due to pain, general weakness. The mental underdevelopment, hepatosplenomegaly, anemia, thrombocytopenia, and the threat of rupture of the spleen were revealed in the process of collecting anamnesis and examination. The patient was transferred to the surgical department, and a splenectomy was performed. Histological examination of the spleen and genetic examination confirmed the diagnosis of Gaucher's disease.

Unique case of atraumatic splenic rupture in a patient with chronic lymphocytic leukaemia with Richter’s transformation

Though rare, atraumatic rupture of the spleen can be a complication in certain leukaemias and lymphomas. We present a unique case of atraumatic rupture of the spleen in a patient with chronic lymphocytic leukaemia. The patient presented to the emergency department with abdominal pain; he had been on ibrutinib therapy but stopped taking the medication abruptly 6 days prior. On evaluation, he was found to have a ruptured spleen with a haemoperitoneum. Pathology of the excised spleen showed infiltration of the spleen with hyperproliferated CD5+ intermediate-to-large cells, consistent with B-cell lymphoma and favouring Richter’s transformation. There are only a few available reports of patients with similar presentations identified in our literature review.

Atraumatic Splenic Rupture in a SARS-CoV-2 Patient: Case Report and Review of Literature

Splenic rupture in the absence of trauma or previously diagnosed disease is rare. Due to the delay of diagnosis and treatment, this is a potentially life-threatening condition. We report a case of atraumatic splenic rupture in a SARS-CoV-2 patient. This report is of particular interest as it first identifies SARS-CoV-2 infection as a possible cause of spontaneous rupture of the spleen. A 46-year-old Caucasian woman presented at the emergency department pale and sweaty, complaining of syncopal episodes, tachycardia, hypotension, diarrhea, intense abdominal pain, diffuse arthromyalgia, and fever from the day before. RT-PCR was positive for SARS-CoV-2 infection. CT scan demonstrated extensive hemoperitoneum due to rupture of the splenic capsule. The patient required an emergency open splenectomy because of an unresponsive hemorrhagic shock. At the end of the surgery, the patient was relocated to a COVID-19 dedicated facility. COVID-19 is a new disease of which all manifestations are not yet known. Inpatients affected by SARS-CoV-2 infection with abdominal pain and spontaneous splenic rupture should be considered to avoid a delayed diagnosis.

It’s never too late- spontaneous rupture of spleen and life-threatening hypovolemic shock in a patient recuperating from legionnaire’s disease

Spontaneous non-traumatic rupture of the spleen in the setting of Legionnaires’ disease is very uncommon but a life-threatening condition. The splenic rupture can present within a few days after symptom onset with significant hypotension with drop in haemoglobin along with left side upper quadrant pain. Most of the cases described in the previous literature have presented within 0-11 (mean 4) days of the pneumonia but this case we are reporting presented after 3 weeks after being treated with Legionella pneumonia. The case also highlights an atypical presentation and emphasises the need to maintain a low threshold for diagnosis especially in resource constrained setting so that patient can be transferred at the earliest to a centre where appropriate corrective measures including surgery can be safely undertaken. Keywords: splenic rupture, pneumonia, hypovolemic shock

Splenic abscess leading to spontaneous splenic rupture

Spontaneous, atraumatic rupture of the spleen is an uncommon but potentially fatal cause of acute abdominal pain. Splenic abscesses are equally rare and can be a risk factor for spontaneous splenic rupture. We present a 45-year-old man with no past medical or surgical history who presented with acute worsening of left upper abdominal pain that had been present for months, who was discovered to have a ruptured spleen. Splenic abscess was discovered intra-operatively and was thought to have developed after dental work. Recognizing presenting features of spontaneous splenic rupture and understanding its potential causes, such as splenic abscesses, may prevent delayed or missed diagnosis and guide treatment, which typically includes emergent splenectomy.

Spontaneous perforation of the stomach and duodenum in children with Ehlers‑Danlos syndrome

Ehlers-Danlos syndrome is based on hereditary systemic dysfunction of the connective tissue caused by impaired collagen synthesis. Depending on the individual mutation, the clinical manifestations of the syndrome can range from mild to life-threatening. The result of a violation of collagen synthesis is the proliferation of elastic fibers, loss of compactness and disorientation of collagen fibers, fragility of the vessel wall and expansion of their lumen. And, given that connective tissue fibers are present in almost every organ, the manifestations of Ehlers-Danlos syndrome are polymorphic and generalized, which often complicates the verification of this disease. The most clinically important is the Ehlers-Danlos Syndrome IV (vascular) type, which occurs as a result of mutations in the COL3A1 and COL1A1 genes and manifests itself in a tendency to spontaneous rupture of large arteries and hollow organs (intestinal perforation, strokes, rupture of the spleen, etc.), poor wound healing, fragility soft tissues, impaired hemostasis. The article describes our own experience of treating 4 patients with spontaneous ruptures of internal organs, including those of a recurrent nature.

Neonatal Rupture of the Spleen: Successful Treatment with Splenic Artery Embolization

Neonatal intra-abdominal hemorrhage has been rarely reported in the literature. We report a case of splenic injury in a neonate, highlighting the importance of a high-index suspicion in early recognition of this rare and potentially fatal injury. We report the first case of a neonate who had a splenic rupture and underwent successful endovascular treatment.