Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report

Abstract Background This report outlines a case of pseudocholinesterase deficiency in a pediatric patient, whose autosomal recessive condition is caused by two different pathologic variants of the butyrylcholinesterase gene, resulting in a rare case of functional homozygosity. Case presentation A he...

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Bibliographic Details
Main Authors: Julia Schulze-Berge, Lukas Pillong, Birgit Busse, Wolfram Henn, Nasenien Nourkami-Tutdibi, Dominik Schmitz, Tobias Hüppe
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Journal of Medical Case Reports
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Online Access:https://doi.org/10.1186/s13256-025-05183-5
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