Ventricular vascular coupling in mucopolysaccharidosis types IVA and VI: Data from the baseline assessment of a phase II clinical trial

Fabiano O. Poswar, Diane B. Pedrini,Angela B. Santos,Esteban A. Gonzalez, Luz Elene Durán Carabali,Carolina Fischinger Moura de Souza,Guilherme Baldo, Roberto Giugliani

Molecular Genetics and Metabolism(2023)

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Abstract
Medicopsis romeroi is a rare, dematiaceous fungus that is difficult to identify using conventional fungal tests. Although uncommon, immunocompromised patients are particularly susceptible to this opportunistic fungus. Here, we report the case of a renal transplant recipient who presented with painful disseminated subcutaneous and soft tissue lesions. Sequencing of the Internal transcribed spacer (ITS) region of the ribosomal DNA identified the fungus as Medicopsis romeroi. Additionally, tissue samples from a non-healing wound on the left forearm grew Rhizopus spp. on Sabouraud dextrose agar, indicating a Mucormycosis superinfection. The patient's condition improved with surgical intervention and antifungal therapy with Posaconazole and Terbinafine. This case demonstrates the need for a high index of suspicion in order to facilitate early diagnosis and treatment and thus reduce the risk of dissemination.
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mucopolysaccharidosis types iva,ventricular vascular coupling
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