Patient: Female, 9 Final Diagnosis: Mandibular hypoplasia secondary to Shprintzen-Goldberg Syndrome Symptoms: Difficulty swallowing Medication: — Clinical Procedure: Bilateral mandibular osteotomy and distraction for mandibular hypolasia Specialty: Neurosurgery Objective: Rare disease 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.

Fifty-six eyes which had a triple procedure (penetrating keratoplasty, extracapsular cataract extraction, and posterior chamber intraocular lens implantation) were evaluated for the incidence, results, and complications of neodymium:YAG laser posterior capsulotomy. Ten of the 56 eyes (17.8%) required YAG laser posterior capsulotomy. Overall, nine of the ten eyes (90.0%) improved their visual acuity one Snellen line or more. Lens pitting (one case) and bleeding (one case) were complications of the laser treatment. The addition of the corneal transplant does not appear to alter the results of the YAG laser posterior capsulotomy, nor does it jeopardize the success of the corneal transplant.

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