Uncovering a New Family Cluster of Gaucher Disease: A Case Report.

Gaucher disease (GD) is a recessive autosomal lysosomal storage disorder caused by a deficiency in glucocerebrosidase, leading to the accumulation of undigested glycolipids in the lysosomes of monocytes and macrophages. Patients with GD exhibit a spectrum of phenotypic heterogeneity and are broadly classified into three subtypes. Type 1 is the most common and is not associated with neurological damage, while types 2 and 3 are more severe, presenting with acute neuropathic and subacute neuropathic symptoms, respectively. A thorough accurate initial multisystemic assessment is crucial for evaluating the damage to all potentially affected organs and determining the disease burden. This case report highlights the intricacies of GD type 1 by providing a thorough exploration of the clinical presentation and showcasing valuable insights into the unique manifestations of the disease. The key feature was his individual and family medical history, which allowed the identification and treatment of another case within the community.

Diclofenac-Induced Immune Hemolytic Anemia: A Case Report and Review of Literature.

Non-steroidal anti-inflammatory drugs are widely used for pain management. Most frequently, adverse reactions affect the gastrointestinal tract and hematological side effects usually relate to the gastrointestinal manifestations. Drug-induced immune hemolytic anemia is a rare and frequently underdiagnosed complication that is associated with poor outcomes including organ failure and even death. A 76-year-old female patient was treated with intramuscular diclofenac, thiocolchicoside, and diazepam for low back pain. Five days following diclofenac exposure, the patient was admitted to the Emergency Department with complaints of asthenia, nausea, vomiting, and diarrhea. Hemolysis and a positive direct antiglobulin test were detected on laboratory testing. Further causes of hemolytic anemia were excluded and a diagnosis of diclofenac-induced immune hemolytic anemia was established. Glucocorticoid therapy initiated on admission and drug eviction led to complete recovery. Long-term follow-up showed no recurrence of anemia. Here, we present the unusual case of a successful recovery of a 76-year-old patient with diclofenac-induced immune hemolytic anemia, a rare but immediate life-threatening condition of a frequently used drug in clinical practice.

Scurvy, Starvation, and Flea Infestation - A Case Report From 21st Century Europe.

Scurvy is a disease caused by vitamin C deficiency, historically associated with long sea voyages, periods of famine and war. Currently, it is often misdiagnosed and underreported, as physicians tend to consider it a disease of the past. We present the case of a 79-year-old female who was admitted to the Emergency Department complaining of pruritus. The patient lived alone and in poor hygiene conditions. Diet was scarce. One week before admission she was in contact with flea-ridden stray dogs. Sometime later she noted several fleas and multiple pruritic small papules, crusts, and excoriations on her torso, limbs, palms, soles, and scalp. Physical examination showed the patient to be pale, emaciated, and poorly groomed. Laboratory analysis showed microcytic anemia. Flea bites were treated with oral antihistamines and prednisolone. Follow-up one month later showed weight gain and partial resolution of skin lesions. However, multiple small ecchymosis on both lower and upper limbs, and occasional perifollicular petechias on her lower extremities, were noted. Additional workup showed undetectable serum vitamin C levels. A diagnosis of scurvy was made. The patient was treated with 1000 mg per day of oral vitamin C for one month leading to complete recovery. We present this case to remind that early recognition of vitamin C deficiency and appropriate supplementation are essential in patients with scurvy. Physicians should be aware of classic signs, symptoms, and social factors associated with this forgotten disease.

Primary intimal sarcoma of the left atrium presenting with constitutional symptoms.

Intimal (spindle-cell) sarcomas are exceptionally rare and are highly aggressive cardiac tumors. The authors describe a case of a 43-year-old female, presenting with a 3-month history of constitutional symptoms with fever, night sweats, anorexia and weight loss, associated with productive cough and pleural effusion that was admitted with clinical suspicion of pulmonary tuberculosis. The patient developed sudden acute heart failure symptoms during hospitalization, leading to mechanical ventilation. Computed tomography scan with contrast showed a cardiac tumor filling the left atrium causing compression of pulmonary veins. Surgical resection was performed and histologic examination revealed an intimal sarcoma. Although commenced on adjuvant chemotherapy, local tumor recurrence occurred with pericardium invasion. The patient died within 4 months of initial diagnosis. This report aims to describe an unusual presentation of this rare disease entity, and to discuss its highly aggressive clinical course.