08 August 2019
: Case report
Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report
Unusual or unexpected effect of treatment, Rare disease
Gabrielle R. O’Dougherty1ABCDEF, Daniel H. Fulkerson2CD, Melissa Kern2B, Kasturi Haldar1ABCDEF, Barbara Calhoun1ABDEF*DOI: 10.12659/AJCR.914924
Am J Case Rep 2019; 20:1159-1169
Abstract
BACKGROUND: Shprintzen-Goldberg syndrome (SGS) is an extremely rare collagenopathy, most often caused by autosomal-dominant mutations in the SKI proto-oncogene, which is a component of the transforming growth factor beta (TGF-β) signaling pathway. Approximately 50–60 cases of SGS have been recorded in the literature worldwide since its discovery in 1982. This collagen disorder affects bone and vascular development throughout the body, resulting in craniosynostosis, scoliosis, chest deformities, and aortic root dilation. Patients may have problems in the central nervous system, including Chiari 1 malformation, hydrocephalus, and dilation of the lateral ventricles. Unfortunately, the symptoms of SGS closely parallel those of related collagenopathies involving mutations in the TGF-β signaling pathway, which makes accurate diagnosis difficult without genetic testing, especially in cases with complex presentation.
CASE REPORT: In this report we present the unique and complex disease manifestations in a 9-year-old girl with SGS. The patient had severe cervical spinal instability that resolved after surgical occipital-C4 fusion with an autograft from the rib. Midface distraction surgery was used to treat the patient’s craniosynostosis and related facial deformities. This surgery was complicated by loss of 750 mL of blood due to insufficient dura and prominent vasculature.
CONCLUSIONS: Connective tissue symptoms associated with SGS can involve dural and vascular problems, as seen in this case report. Thus, the risk of extreme blood loss should be anticipated any time midface distraction surgery is performed on an SGS patient. Continued research is needed to define how this case relates to the SGS patient population.
Keywords: Craniosynostoses, DiGeorge syndrome, Dura Mater, Osteogenesis, Distraction, Spinal Cord Compression, Arachnodactyly, Blood Loss, Surgical, Child, Marfan Syndrome, Osteotomy, Le Fort, Proto-Oncogene Mas
1032 11
Editorial
01 October 2023 : Editorial
DOI: 10.12659/AJCR.942670
Am J Case Rep 2023; 24:e942670
In Press
03 Oct 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941158
02 Oct 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941089
30 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.941621
29 Sep 2023 : Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.940892
Most Viewed Current Articles
06 Dec 2021 : Case report
DOI :10.12659/AJCR.934406
Am J Case Rep 2021; 22:e934406
07 Dec 2021 : Case report
DOI :10.12659/AJCR.934347
Am J Case Rep 2021; 22:e934347
13 Jul 2022 : Case report
DOI :10.12659/AJCR.936441
Am J Case Rep 2022; 23:e936441
23 Feb 2022 : Case report
DOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250