Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder disrupting the urea cycle in 1 per 56,000 births. Goldenhar syndrome (GS), characterized by craniofacial and vertebral anomalies, is seen in 1 per 3,000–5,000 births. Understanding the pathophysiology and manifestations of both is...
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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1501423/full |
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| author | Daniela Torres Salazar Daniela Torres Salazar Andres Felipe Beltran Andres Felipe Beltran Sergio Alzate-Ricaurte Sergio Alzate-Ricaurte |
| author_facet | Daniela Torres Salazar Daniela Torres Salazar Andres Felipe Beltran Andres Felipe Beltran Sergio Alzate-Ricaurte Sergio Alzate-Ricaurte |
| author_sort | Daniela Torres Salazar |
| collection | DOAJ |
| description | Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder disrupting the urea cycle in 1 per 56,000 births. Goldenhar syndrome (GS), characterized by craniofacial and vertebral anomalies, is seen in 1 per 3,000–5,000 births. Understanding the pathophysiology and manifestations of both is paramount for developing a perioperative plan. This case report presents a 21-month-old infant with both OTCD and GS undergoing hemifacial malformation correction surgery, the first such report in medical literature. The patient initially presented with lethargy, somnolence, headache, and seizures due to acute liver failure and metabolic acidosis. Diagnosis of OTCD was confirmed through elevated ammonia levels and urine organic acids analysis. The surgical plan involved mandible reconstruction using an autologous costochondral graft. Preoperative management included a low-protein diet and sodium benzoate administration to control ammonia levels. Anesthesia induction and maintenance were carefully managed, with close monitoring of metabolic parameters. The surgery lasted 4 h, during which the patient required transfusion therapy due to easy bleeding. Postoperatively, the patient was monitored in the Pediatric Intensive Care Unit for 48 h before transfer to the general ward. The importance of meticulous preoperative assessment, airway planning, and vigilant intraoperative management in OTCD and GS is underscored. This case highlights the challenges in managing rare comorbidities and emphasizes the need for a multidisciplinary approach. The collaborative effort between specialties led to successful management of this complex case, providing valuable insights for future similar scenarios. |
| format | Article |
| id | doaj-art-506f8d7b731e4c0485364a39dc6ceed0 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-506f8d7b731e4c0485364a39dc6ceed02025-08-20T03:49:41ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-05-011310.3389/fped.2025.15014231501423Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case reportDaniela Torres Salazar0Daniela Torres Salazar1Andres Felipe Beltran2Andres Felipe Beltran3Sergio Alzate-Ricaurte4Sergio Alzate-Ricaurte5Department of Anesthesiology, Fundación Valle del Lili, Cali, ColombiaSchool of Medicine, Universidad Icesi, Cali, ColombiaDepartment of Anesthesiology, Fundación Valle del Lili, Cali, ColombiaSchool of Medicine, Universidad Icesi, Cali, ColombiaDepartment of Anesthesiology, Fundación Valle del Lili, Cali, ColombiaCentro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, ColombiaOrnithine transcarbamylase deficiency (OTCD) is an X-linked disorder disrupting the urea cycle in 1 per 56,000 births. Goldenhar syndrome (GS), characterized by craniofacial and vertebral anomalies, is seen in 1 per 3,000–5,000 births. Understanding the pathophysiology and manifestations of both is paramount for developing a perioperative plan. This case report presents a 21-month-old infant with both OTCD and GS undergoing hemifacial malformation correction surgery, the first such report in medical literature. The patient initially presented with lethargy, somnolence, headache, and seizures due to acute liver failure and metabolic acidosis. Diagnosis of OTCD was confirmed through elevated ammonia levels and urine organic acids analysis. The surgical plan involved mandible reconstruction using an autologous costochondral graft. Preoperative management included a low-protein diet and sodium benzoate administration to control ammonia levels. Anesthesia induction and maintenance were carefully managed, with close monitoring of metabolic parameters. The surgery lasted 4 h, during which the patient required transfusion therapy due to easy bleeding. Postoperatively, the patient was monitored in the Pediatric Intensive Care Unit for 48 h before transfer to the general ward. The importance of meticulous preoperative assessment, airway planning, and vigilant intraoperative management in OTCD and GS is underscored. This case highlights the challenges in managing rare comorbidities and emphasizes the need for a multidisciplinary approach. The collaborative effort between specialties led to successful management of this complex case, providing valuable insights for future similar scenarios.https://www.frontiersin.org/articles/10.3389/fped.2025.1501423/fullperioperative caregoldenhar syndromeornithine transcarbamylase deficiency diseaseacid-base imbalancecraniofacial abnormalities |
| spellingShingle | Daniela Torres Salazar Daniela Torres Salazar Andres Felipe Beltran Andres Felipe Beltran Sergio Alzate-Ricaurte Sergio Alzate-Ricaurte Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report Frontiers in Pediatrics perioperative care goldenhar syndrome ornithine transcarbamylase deficiency disease acid-base imbalance craniofacial abnormalities |
| title | Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report |
| title_full | Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report |
| title_fullStr | Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report |
| title_full_unstemmed | Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report |
| title_short | Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report |
| title_sort | perioperative care in pediatric otc deficiency and goldenhar syndrome a case report |
| topic | perioperative care goldenhar syndrome ornithine transcarbamylase deficiency disease acid-base imbalance craniofacial abnormalities |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1501423/full |
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