Perioperative Management of Type-3c Gaucher's Disease for Kyphoscoliosis Correction and Spinal Cord Detethering
Gaucher's disease (GD) is an inherited lysosomal storage disorder caused by mutations in the acid β-glucosidase (GBA) gene, leading to abnormal function of the enzyme glucocerebrosidase, which results in the accumulation of glucocerebrosides in various organs, causing multiorgan dysfunction. GD...
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| Series: | Journal of Neuroanaesthesiology and Critical Care |
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| author | Tasneem F. Ahmed Ramamani Mariappan Sreekumar M. Ramadas Wilson P. D'Souza Krishnaprabhu Raju |
| author_facet | Tasneem F. Ahmed Ramamani Mariappan Sreekumar M. Ramadas Wilson P. D'Souza Krishnaprabhu Raju |
| author_sort | Tasneem F. Ahmed |
| collection | DOAJ |
| description | Gaucher's disease (GD) is an inherited lysosomal storage disorder caused by mutations in the acid β-glucosidase (GBA) gene, leading to abnormal function of the enzyme glucocerebrosidase, which results in the accumulation of glucocerebrosides in various organs, causing multiorgan dysfunction. GD has three phenotypes, of which type-3 is the cardiovascular type with many anesthetic implications. A 20-year-old woman, genetically proven type-3 GD, was diagnosed with thoracolumbar kyphoscoliosis with fatty filum and planned for deformity correction and fatty filum excision. She had mitral and aortic stenoses, hydrocephalus, corneal opacity, a difficult airway, and chronic pain. Management of a difficult airway, hemodynamic management in double stenotic lesions, and perioperative pain management were considered as some of the challenges. The intraoperative course was complicated by massive blood loss and pneumothorax, which were managed appropriately. Perioperative pain was managed using a multimodal analgesic technique. Thorough preoperative evaluation, meticulous planning, and execution with adequate backup plans and appropriate pain management helped with faster recovery. |
| format | Article |
| id | doaj-art-197830edb1844121a3de4538eafab7d9 |
| institution | Kabale University |
| issn | 2348-0548 2348-926X |
| language | English |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Journal of Neuroanaesthesiology and Critical Care |
| spelling | doaj-art-197830edb1844121a3de4538eafab7d92025-08-22T22:52:25ZengThieme Medical and Scientific Publishers Pvt. Ltd.Journal of Neuroanaesthesiology and Critical Care2348-05482348-926X10.1055/s-0045-1811242Perioperative Management of Type-3c Gaucher's Disease for Kyphoscoliosis Correction and Spinal Cord DetetheringTasneem F. Ahmed0https://orcid.org/0000-0001-6397-285XRamamani Mariappan1https://orcid.org/0000-0003-0334-459XSreekumar M. Ramadas2https://orcid.org/0009-0004-3050-9454Wilson P. D'Souza3https://orcid.org/0000-0002-9936-4941Krishnaprabhu Raju4https://orcid.org/0000-0002-2644-7201Department of Neuroanesthesia, Christian Medical College, Vellore, Tamil Nadu, IndiaDepartment of Neuroanesthesia, Christian Medical College, Vellore, Tamil Nadu, IndiaDepartment of Neuroanesthesia, Christian Medical College, Vellore, Tamil Nadu, IndiaDepartment of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, IndiaDepartment of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, IndiaGaucher's disease (GD) is an inherited lysosomal storage disorder caused by mutations in the acid β-glucosidase (GBA) gene, leading to abnormal function of the enzyme glucocerebrosidase, which results in the accumulation of glucocerebrosides in various organs, causing multiorgan dysfunction. GD has three phenotypes, of which type-3 is the cardiovascular type with many anesthetic implications. A 20-year-old woman, genetically proven type-3 GD, was diagnosed with thoracolumbar kyphoscoliosis with fatty filum and planned for deformity correction and fatty filum excision. She had mitral and aortic stenoses, hydrocephalus, corneal opacity, a difficult airway, and chronic pain. Management of a difficult airway, hemodynamic management in double stenotic lesions, and perioperative pain management were considered as some of the challenges. The intraoperative course was complicated by massive blood loss and pneumothorax, which were managed appropriately. Perioperative pain was managed using a multimodal analgesic technique. Thorough preoperative evaluation, meticulous planning, and execution with adequate backup plans and appropriate pain management helped with faster recovery.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1811242aortic stenosistype-3c Gaucher's diseasekyphoscoliosis correctionmitral stenosismassive blood loss and transfusion |
| spellingShingle | Tasneem F. Ahmed Ramamani Mariappan Sreekumar M. Ramadas Wilson P. D'Souza Krishnaprabhu Raju Perioperative Management of Type-3c Gaucher's Disease for Kyphoscoliosis Correction and Spinal Cord Detethering Journal of Neuroanaesthesiology and Critical Care aortic stenosis type-3c Gaucher's disease kyphoscoliosis correction mitral stenosis massive blood loss and transfusion |
| title | Perioperative Management of Type-3c Gaucher's Disease for Kyphoscoliosis Correction and Spinal Cord Detethering |
| title_full | Perioperative Management of Type-3c Gaucher's Disease for Kyphoscoliosis Correction and Spinal Cord Detethering |
| title_fullStr | Perioperative Management of Type-3c Gaucher's Disease for Kyphoscoliosis Correction and Spinal Cord Detethering |
| title_full_unstemmed | Perioperative Management of Type-3c Gaucher's Disease for Kyphoscoliosis Correction and Spinal Cord Detethering |
| title_short | Perioperative Management of Type-3c Gaucher's Disease for Kyphoscoliosis Correction and Spinal Cord Detethering |
| title_sort | perioperative management of type 3c gaucher s disease for kyphoscoliosis correction and spinal cord detethering |
| topic | aortic stenosis type-3c Gaucher's disease kyphoscoliosis correction mitral stenosis massive blood loss and transfusion |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1811242 |
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