Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure
A 22-month-old male infant presented with cyanosis and stridor after a trivial fall and then developed acute respiratory distress. The respiratory status of the patient progressed rapidly to severe acute respiratory distress syndrome. Additional findings of hypersplenism prompted a comprehensive mul...
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Frontiers Media S.A.
2025-03-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1476541/full |
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| author | Sarah Householder Sarah Householder Ruchit Nagar Ruchit Nagar Nisarg Shah Jodi Forward Sean Bickerton Pramod Mistry E. Vincent S. Faustino |
| author_facet | Sarah Householder Sarah Householder Ruchit Nagar Ruchit Nagar Nisarg Shah Jodi Forward Sean Bickerton Pramod Mistry E. Vincent S. Faustino |
| author_sort | Sarah Householder |
| collection | DOAJ |
| description | A 22-month-old male infant presented with cyanosis and stridor after a trivial fall and then developed acute respiratory distress. The respiratory status of the patient progressed rapidly to severe acute respiratory distress syndrome. Additional findings of hypersplenism prompted a comprehensive multidisciplinary approach and consideration of an inborn error of metabolism. Rapid whole genome sequence showed a compound heterozygote mutation in the GBA1 gene involving a maternally inherited known pathogenic variant, p.L483P, and a paternally inherited novel likely pathogenic variant, p.P358l. The diagnosis of Gaucher disease was confirmed with low leukocyte acid β-glucosidase activity and the patient received recombinant macrophage-targeted enzyme replacement therapy. The patient eventually recovered, but subsequent work-up demonstrated severe bulbar dysfunction with evidence of aspiration. Two months after discharge, the patient arrived at the hospital in a condition of cardiac arrest after a suspected aspiration event associated with hemoptysis. This case illustrates a previously undescribed presentation of Gaucher disease and a new likely pathogenic genetic variant for Gaucher disease. It highlights the role of a multidisciplinary approach, including rapid whole-genome sequencing, to establish timely diagnosis and provide appropriate therapy for Gaucher disease. |
| format | Article |
| id | doaj-art-a92a4922eaac44ebb8e9b20cde6f5d9a |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-a92a4922eaac44ebb8e9b20cde6f5d9a2025-08-20T03:41:20ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-03-011310.3389/fped.2025.14765411476541Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failureSarah Householder0Sarah Householder1Ruchit Nagar2Ruchit Nagar3Nisarg Shah4Jodi Forward5Sean Bickerton6Pramod Mistry7E. Vincent S. Faustino8Department of Pediatrics, Yale-New Haven Hospital, New Haven, CT, United StatesDepartment of Internal Medicine, Yale-New Haven Hospital, New Haven, CT, United StatesDepartment of Pediatrics, Yale-New Haven Hospital, New Haven, CT, United StatesDepartment of Internal Medicine, Yale-New Haven Hospital, New Haven, CT, United StatesYale School of Medicine, New Haven, CT, United StatesSecion of Hematology/Oncology, Department of Pediatrics, Yale-New Haven Hospital, New Haven, CT, United StatesDepartment of Pediatrics, Yale-New Haven Hospital, New Haven, CT, United StatesSection of Digestive Diseases, Department of Internal Medicine, Yale School of Medicine, New Haven, CT, United StatesSection of Critical Care, Department of Pediatrics, Yale School of Medicine, New Haven, CT, United StatesA 22-month-old male infant presented with cyanosis and stridor after a trivial fall and then developed acute respiratory distress. The respiratory status of the patient progressed rapidly to severe acute respiratory distress syndrome. Additional findings of hypersplenism prompted a comprehensive multidisciplinary approach and consideration of an inborn error of metabolism. Rapid whole genome sequence showed a compound heterozygote mutation in the GBA1 gene involving a maternally inherited known pathogenic variant, p.L483P, and a paternally inherited novel likely pathogenic variant, p.P358l. The diagnosis of Gaucher disease was confirmed with low leukocyte acid β-glucosidase activity and the patient received recombinant macrophage-targeted enzyme replacement therapy. The patient eventually recovered, but subsequent work-up demonstrated severe bulbar dysfunction with evidence of aspiration. Two months after discharge, the patient arrived at the hospital in a condition of cardiac arrest after a suspected aspiration event associated with hemoptysis. This case illustrates a previously undescribed presentation of Gaucher disease and a new likely pathogenic genetic variant for Gaucher disease. It highlights the role of a multidisciplinary approach, including rapid whole-genome sequencing, to establish timely diagnosis and provide appropriate therapy for Gaucher disease.https://www.frontiersin.org/articles/10.3389/fped.2025.1476541/fullGaucher diseasestridorpediatric ARDSgene replacement therapycase report |
| spellingShingle | Sarah Householder Sarah Householder Ruchit Nagar Ruchit Nagar Nisarg Shah Jodi Forward Sean Bickerton Pramod Mistry E. Vincent S. Faustino Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure Frontiers in Pediatrics Gaucher disease stridor pediatric ARDS gene replacement therapy case report |
| title | Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure |
| title_full | Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure |
| title_fullStr | Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure |
| title_full_unstemmed | Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure |
| title_short | Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure |
| title_sort | case report diagnosis of gaucher disease in a toddler with acute respiratory failure |
| topic | Gaucher disease stridor pediatric ARDS gene replacement therapy case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1476541/full |
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