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.
Unprovoked venous thromboembolism (VTE) may be the earliest manifestation of cancer. According to recent studies, approximately 5% of patients with unprovoked VTE will be diagnosed with cancer within the first year of follow-up. Although screening extensively at the time of VTE diagnosis is attractive for clinicians, current clinical guidance documents suggest only a limited cancer screening strategy. The authors describe a rare case of Krukenberg tumor of the ovary arising from a primary gastric adenocarcinoma whose first sign was an unprovoked venous thrombosis of the upper extremity.
Fahr's syndrome is an uncommon neurodegenerative disorder, characterized by bilateral and extensive deposition of calcium in the basal ganglia. We present the case of a 66-year-old female presented to the Emergency Department with (a sudden and) intense holocranial headache accompanied by nausea. She also reported paresthesias of the hands and feet with several years of evolution, mnesic changes and periods of uninhibited behavior. Head CT revealed extensive and bilateral calcifications of the basal ganglia, cerebellum and frontal region and the analytical findings showed a severe hypocalcemia. She begun replacement with intravenous and oral calcium. An improvement of signs and symptoms were observed during the hospitalization. Although rare, Fahr's syndrome must be kept in mind and appropriate treatment should be aplied in order to stop it's progression and improve the clinic symptoms and signs.
Fahr's syndrome is an uncommon neurodegenerative disorder, characterized by bilateral and extensive deposition of calcium in the basal ganglia.We present the case of a 66-year-old female presented to the Emergency Department with (a sudden and) intense holocranial headache accompanied by nausea.She also reported paresthesias of the hands and feet with several years of evolution, mnesic changes and periods of uninhibited behavior.Head CT revealed extensive and bilateral calcifications of the basal ganglia, cerebellum and frontal region and the analytical findings showed a severe hypocalcemia.She begun replacement with intravenous and oral calcium.An improvement of signs and symptoms were observed during the hospitalization.Although rare, Fahr's syndrome must be kept in mind and appropriate treatment should be aplied in order to stop it's progression and improve the clinic symptoms and signs.
Kaposi sarcoma (KS), first described in 1872, is a angioproliferative neoplasm that often presents with red-purple macules in the skin. This report is of a case of classic/iatrogenic form of KS in a 79-year-old male, that had a prolonged hospitalization due to surgical complications. After discharge, he presented a red-purple macule. A biopsy was made and KS was confirmed. He was HIV negative. The patient did not required any other treatment asides of total removal of the lesion. Kaposi’s sarcoma is an uncommon disease, still very associated with HIV. This case demonstrates the importance of recognition of KS in non-HIV patients. There are four types of Kaposi’s sarcoma and the importance of its recognition in non-HIV patients.
Kaposi sarcoma (KS), first described in 1872, is an angioproliferative neoplasm that often presents with red-purple macules in the skin. This report is of a case of classic/iatrogenic form of KS in a 79-year-old male, that had a prolonged hospitalization due to surgical complications. After discharge, he presented a red-purple macule. A biopsy was made and KS was confirmed. He was HIV negative. The patient did not require any other treatment asides from the total removal of the lesion. Kaposi's sarcoma is an uncommon disease, still very associated with HIV. This case demonstrates the importance of recognition of KS in non-HIV patients. There are four types of Kaposi's sarcoma and the importance of its recognition in non-HIV patients.
El ultrasonido a la cabecera del paciente (UCP) es una herramienta esencial en la evaluación inicial del paciente crítico. Presentamos el caso de una mujer de 83 años que ingresó por un cuadro de alteración súbita del estado de consciencia. A su llegada estaba confusa, con hipoxemia, taquicardia y signos de mala perfusión periférica. El UCP mostró dilatación del ventrículo derecho compatible con la fuerte sospecha clínica de tromboembolismo pulmonar. Este caso demuestra la importancia de incluir el UCP en la evaluación de pacientes críticos, pues permite reducir el tiempo para el diagnóstico y tratamiento, mejorando su pronóstico.
BACKGROUND:Takotsubo cardiomyopathy is characterized by transient left systolic dysfunction that can mimic acute myocardial infarction. Atrioventricular (AV) block associated with Takotsubo is rare, but a few cases have been reported in recent years.METHODS:We present the case of a 77-year-old woman presenting with second-degree AV and Takotsubo syndrome.RESULTS:The diagnosis of Takotsubo syndrome was based on echocardiogram changes and the absence of coronary artery obstruction on coronary angiography.CONCLUSIONS:We describe a patient with a diagnosis of Takotsubo syndrome and AV conduction defect. These conditions rarely occur simultaneous, but when they do, a dilemma arises regarding pacemaker implantation.LEARNING POINTS:Takotsubo syndrome is a rare disorder that can mimic acute myocardial infarction.Takotsubo syndrome normally resolves by itself, but the associated arrhythmias may need treatment and pacemaker implantation.The timing of pacemaker implantation has to be evaluated on a case-by-case basis.