scholarly journals Orbital Swelling and Ptosis as an Initial Presentation of Childhood Acute Lymphoblastic Leukaemia: A Case Report and Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Ahmed Alsalem ◽  
Bayan Almasoudi ◽  
Ghaida Alzahrani ◽  
Lama Sindi ◽  
Joud Alwan

We are reporting the case of a 3-year-old-girl who initially presented with unilateral eyelid swelling and ptosis. A diagnosis of acute lymphoblastic leukaemia (ALL) was eventually made based on an orbital incisional biopsy and a bone marrow examination. Historically, orbital involvement had been linked to myeloid leukaemia; however, in lymphoid leukaemia, they are increasingly being implicated and had been reported as the sole presentation of the disease. These findings stress the importance of conducting ophthalmologic assessments in cases diagnosed with ALL in order to prevent delays in proper assessment and treatment. Management options in orbital disease are fortunately not significantly different than well-established treatment protocols.

2019 ◽  
Vol 20 (4) ◽  
pp. 313-330 ◽  
Author(s):  
Guillermo Gervasini ◽  
Sonia Mota-Zamorano

Background:In the past two decades, a great body of research has been published regarding the effects of genetic polymorphisms on methotrexate (MTX)-induced toxicity and efficacy. Of particular interest is the role of this compound in childhood acute lymphoblastic leukaemia (ALL), where it is a pivotal drug in the different treatment protocols, both at low and high doses. MTX acts on a variety of target enzymes in the folates cycle, as well as being transported out and into of the cell by several transmembrane proteins.Methods:We undertook a structured search of bibliographic databases for peer-reviewed research literature using a focused review question.Results:This review has intended to summarize the current knowledge concerning the clinical impact of polymorphisms in enzymes and transporters involved in MTX disposition and mechanism of action on paediatric patients with ALL.Conclusion:In this work, we describe why, in spite of the significant research efforts, pharmacogenetics findings in this setting have not yet found their way into routine clinical practice.


2011 ◽  
Vol 223 (03) ◽  
Author(s):  
M Morak ◽  
R Joas ◽  
S Fischer ◽  
A Attarbaschi ◽  
G Mann ◽  
...  

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