Acute transverse myelitis is a rare inflammatory demyelinating disorder characterized by relatively acute onset of motor, sensory, and autonomic dysfunction. Mycobacterium tuberculosis is a very rare cause of transverse myelitis. We present a patient with tuberculosis presenting with meningitis and transverse myelitis who had marked clinical improvement and neurologic recovery after treatment of tuberculosis and intravenous steroid pulses.
Fusarium keratomycosis is a destructive eye infection that is difficult to treat and produces a poor outcome, which can affect healthy patients. Keratomycoses are rare and can be underdiagnosed, thus, direct microscopic examination and culture are essential for an early specific diagnosis and must be taken into consideration to establish the most effective treatment and avoid severe complications. Herein, we present a case of a healthy patient, who was diagnosed with Fusarium solani keratitis. He developed a corneal infection without an obvious history of trauma, and any comorbidity but with a history of contact with juice of herbs during an indigenous healing practice, which was the most likely cause for the development of the fungal infection. He was treated with intrastromal voriconazole and systemic itraconazole, with a good clinical course, however with sequelae of decreased visual acuity.
Introduction: Lysosomal storage disorders are a rare group of diseases with genetic origin in which Gaucher Disease (GD) stands out as the most frequent. GD type 1 is the most common form of this condition, and patients with this pathology present with unexplained cytopenias, in addition to hepatosplenomegaly, bone involvement, and in other cases neurological disorders. A case of a patient is presented, whose results showed thrombocytopenia and leukopenia in addition to hepatosplenomegaly. In Ecuador, there are very few reported cases of this clinical entity, and information on this disease is very limited. Case: We present a case of a patient diagnosed with GD, who presented with thrombocytopenia and leukopenia in addition to hepatosplenomegaly, with the aim of emphasizing the importance of early recognition of this pathology, especially in patients with unexplained cytopenia’s or hepatosplenomegaly’s. In suspicion of GD, enzymatic quantification of β-glucocerebrosidase was performed, showing its deficit in addition to alteration in the GBA gene. Conclusion: We believe that a high index of suspicion together with enzymatic and genetic testing are essential for an early specific diagnosis, which will allow the administration of timely treatment and avoid irreversible complications in order to reduce morbidity and improve the clinical aspects of the patient.
Introduction: Lysosomal storage disorders are a rare group of diseases with genetic origin in which Gaucher Disease (GD) stands out as the most frequent. GD type 1 is the most common form of this condition, and patients with this pathology present with unexplained cytopenias, in addition to hepatosplenomegaly, bone involvement, and in other cases neurological disorders. A case of a patient is presented, whose results showed thrombocytopenia and leukopenia in addition to hepatosplenomegaly. In Latin America, there are very few reported cases of this clinical entity, and information on this disease is very limited. Case: We present a case of a patient diagnosed with GD, who presented with thrombocytopenia and leukopenia in addition to hepatosplenomegaly, with the aim of emphasizing the importance of early recognition of this pathology, especially in patients with unexplained cytopenia’s or hepatosplenomegaly’s. In suspicion of GD, enzymatic quantification of β-glucocerebrosidase was performed, showing its deficit in addition to alteration in the GBA gene. Unfortunately, enzymatic replacement could not be done because the Cerazyme (imiglucerase for injection) is not available in Ecuador. Nevertheless, the patient was treated with analgesic (1g of paracetamol generally three times a day) and vitamin supplements (Dayamineral). Currently the patient is waiting for transfer to a foreign institution; she continues with bicytopenia and hepatosplenomegaly, her conditions are expected to be remit once the enzymatic treatment has been administered. Conclusion: We believe that the timely recognition of this disease will allow the initiation of enzymatic replacement therapy in an effective manner, in order to reduce morbidity and improve the clinical aspects of the patient.
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