Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report

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-ß) 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-ß 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.

Figure 1.

(A, B) Radiological findings of craniocervical compression (A) A sagittal, T2-Stir-weighted magnetic resonance imaging (MRI) of cervical spine (A) shows severe stenosis at the craniocervical junction with evidence of spinal cord myelomalacia (arrow). (B) A sagittal computed tomography (CT) reconstruction demonstrates platybasia (PB) with a clival-cervical angle of 105°. Dynamic imaging revealed gross instability. High-resolution CT scanning showed a clival-cervical angle of 105 degrees with anterior and inferior displacement of the C1 ring. A clival-cervical angle of less than 125 degrees indicates severe platybasia and is a marker for craniocervical instability. The Pb-C2 line, a measurement of retroflexion of the odontoid as defined by Grabb and Oakes, measured 15 mm, well above the critical value of 9 mm. A value above 9 mm generally indicates severe compression of the spinal canal; her canal width measured 3 mm. The patient underwent a decompression of the foramen magnum and an occipital-cervical fusion. Postoperatively, strength markedly improved and the patient became ambulatory.

Figure 2.

(A–C) Radiological Visualization of Midface Distraction. (A) 3D CT reconstruction shows pronounced midface hypoplasia (arrow). (B). Lateral x-ray shows the immediate postoperative anatomy after a midface distraction procedure. (C) Lateral x-ray after distraction demonstrates advancement of midface and frontal calvarium.