Transudative myelomatous pleurisy revealing pleural localization of primary plasma cell leukemia

Bouayadi, Ouardia; m’barek, Ahmed Id; Lyagoubi, Amina; Taghlaoui, Rachid; Aarab, Adnane; Kouismi, Hatim; Seddik, Rachid

doi:10.1684/abc.2019.1420

Cited by 1 publication

(1 citation statement)

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“…More interestingly, a study reported that GD is not rare in Morocco, and type 1 is the most common. This is due to the high frequency of consanguineous marriages [30].…”

Section: Discussionmentioning

confidence: 99%

Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease

Rossi,

Ferrante,

Valentinuzzi

et al. 2023

Biomedicines

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Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, belonging to the group of lysosomal storage diseases (LSDs). GD is caused by a defect in lysosomal glucocerebrosidase, responsible for glucosylceramide breakdown into glucose and ceramide. Because of this dysfunction, glucosylceramide progressively accumulates in the liver, spleen, bone marrow, bones, and in other tissues and organs, also causing anemia, hepatosplenomegaly, thrombocytopenia, and bone symptoms. Depending on neurological symptoms, GD is classified into three main types. Treatment options for LSDs, including enzyme replacement therapy, hematopoietic stem cell transplantation, small molecular weight pharmacologic chaperones, and, for some LSDs, gene therapy, are increasingly available. For this reason, many efforts are aimed at implementing newborn screening for LSDs since early detection accompanied by a prompt intervention has been demonstrated to be essential for reducing morbidity and mortality and for improved clinical outcomes. Herein, we report two siblings of preschool age, presenting with hepatosplenomegaly and thrombocytopenia. The initial suspicion of GD based on the clinical picture was further supported by biochemical confirmation, through newborn screening workflow, including first- and second-level testing on the same dried blood spot samples, and finally by molecular testing.

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“…More interestingly, a study reported that GD is not rare in Morocco, and type 1 is the most common. This is due to the high frequency of consanguineous marriages [30].…”

Section: Discussionmentioning

confidence: 99%