Jennifer L. Rhodes

Pfeiffer syndrome: a treatment evaluation.

Background: Pfeiffer syndrome is rarely encountered, even at major craniofacial centers. Published reports indicate high mortality rates (25 to 85 percent) for severely affected subtypes. The authors reviewed their surgically treated patients to improve outcomes. Methods: The authors conducted a 17-year, single-center, retrospective outcome assessment of all children treated for Pfeiffer syndrome, with data summarized using descriptive statistics. Results: Of 802 patients treated for craniosynostosis, 28 were identified with Pfeiffer syndrome: 17 were classified as type I (61 percent), seven were classified as type II (25 percent), and four were classified as type III (14 percent). The mean age was 10 years (range, 12 months to 39 years), with an average of 9.3 operations per child (2.5 cranial vaults, 1.1 Le Fort III procedures). Fifty-nine percent had external auditory canal atresia (100 percent of type III patients), and 29 percent had some visual disturbance. Tracheostomies were recommended in 100 percent of type II and III patients, and two type II patients required tracheal stenosis repairs. Eighty-four percent had acquired Chiari malformations (100 percent of type II and III patients), and 61 percent required treatment for hydrocephalus. Fifty percent of shunted patients (mean age, 7 years) have required Chiari decompressions, but no patients undergoing endoscopic third ventriculostomies (mean age, <3 years) have required treatment. The mortality rate was 7 percent, with both deaths occurring at home without proximity to surgery. Conclusions: The authors’ mortality rates for type II and III Pfeiffer syndrome are lower than those previously published. The authors believe a preemptory tarsorrhaphy strategy can prevent visual loss and that further reductions in mortality rates are possible with aggressive airway management (early tracheostomies) and more frequent screening (e.g., magnetic resonance imaging, sleep studies) for Chiari malformations.

Minimizing transfusion requirements for children undergoing craniosynostosis repair: the CHoR protocol

OBJECT Children with craniosynostosis may require cranial vault remodeling to prevent or relieve elevated intracranial pressure and to correct the underlying craniofacial abnormalities. The procedure is typically associated with significant blood loss and high transfusion rates. The risks associated with transfusions are well documented and include transmission of infectious agents, bacterial contamination, acute hemolytic reactions, transfusion-related lung injury, and transfusion-related immune modulation. This study presents the Childrens Hospital of Richmond (CHoR) protocol, which was developed to reduce the rate of blood transfusion in infants undergoing primary craniosynostosis repair. METHODS A retrospective chart review of pediatric patients treated between January 2003 and Febuary 2012 was performed. The CHoR protocol was instituted in November 2008, with the following 3 components; 1) the use of preoperative erythropoietin and iron therapy, 2) the use of an intraoperative blood recycling device, and 3) acceptance of a lower level of hemoglobin as a trigger for transfusion (< 7 g/dl). Patients who underwent surgery prior to the protocol implementation served as controls. RESULTS A total of 60 children were included in the study, 32 of whom were treated with the CHoR protocol. The control (C) and protocol (P) groups were comparable with respect to patient age (7 vs 8.4 months, p = 0.145). Recombinant erythropoietin effectively raised the mean preoperative hemoglobin level in the P group (12 vs 9.7 g/dl, p < 0.001). Although adoption of more aggressive surgical vault remodeling in 2008 resulted in a higher estimated blood loss (212 vs 114.5 ml, p = 0.004) and length of surgery (4 vs 2.8 hours, p < 0.001), transfusion was performed in significantly fewer cases in the P group (56% vs 96%, p < 0.001). The mean length of stay in the hospital was shorter for the P group (2.6 vs 3.4 days, p < 0.001). CONCLUSIONS A protocol that includes preoperative administration of recombinant erythropoietin, intraoperative autologous blood recycling, and accepting a lower transfusion trigger significantly decreased transfusion utilization (p < 0.001). A decreased length of stay (p < 0.001) was seen, although the authors did not investigate whether composite transfusion complication reductions led to better outcomes.

Craniosynostosis of the lambdoid suture.

Craniosynostosis affecting the lambdoid suture is uncommon. The definition of lambdoid craniosynostosis solely applies to those cases demonstrating true suture obliteration, similar to other forms of craniosynostosis. In patients presenting with posterior plagiocephaly, true lambdoid craniosynostosis must be differentiated from the much more common positional molding. It can occur in a unilateral form, a bilateral form, or as part of a complex craniosynostosis. In children with craniofacial syndromes, synostosis of the lambdoid suture most often is seen within the context of a pansynostotic picture. Chiari malformations are commonly seen in multisutural and syndromic types of craniosynostosis that affect the lambdoid sutures. Posterior cranial vault remodeling is recommended to provide adequate intracranial volume to allow for brain growth and to normalize the skull shape. Although many techniques have been described for the correction of lambdoid synostosis, optimal outcomes may result from those techniques based on the concept of occipital advancement.

Intradiploic dermoid cyst of the lateral frontotemporal skull: case report and review of the literature.

Background: Intradiploic dermoid cysts represent 0.04-0.7% of cranial tumors. Fewer than 20 cases of dermoid cysts occurring in the lateral frontotemporal region with a sinus tract and bony involvement are described, only 7 with intracranial extension. We present the first report of such a lesion arising within the lateral coronal suture. As the literature on this topic grows, the matter of preoperative imaging for soft tissue and bony lesions of the lateral frontotemporal region is evolving, and this report offers a preliminary set of criteria for when imaging is a necessity. Case Report: A 2-year-old male presented with a bony lesion in the right frontotemporal region. Since birth the lesion had grown commensurately with the patient. Examination revealed an immobile hard mass overlying the right coronal suture with no discernable abnormality. Computed tomography demonstrated a cystic lesion without evidence of intracranial extension. Intraoperatively, the exophytic lesion was fully enclosed by bony matrix, interrupting the coronal suture as it approached the pterion. Following resection, pathology revealed an intradiploic dermoid cyst. Conclusion: Intradiploic dermoid cysts occurring within patent cranial sutures away from the midline are rarely described lesions. Complete surgical resection with careful follow-up is the treatment of choice.

Preoperative planning for the separation of omphalopagus conjoined twins-the role of a multicomponent medical model.

Abstract Abdominal wall reconstruction after the separation of omphalopagus conjoined twins poses a challenge for the reconstructive surgeon as separation often results in large defects involving both the skin and the abdominal wall. We describe the fabrication of a multicomponent medical model devised to simulate the various soft tissue elements and enhance presurgical planning capabilities. A life-size model was cast of omphalopagus conjoined twins including a circumferential rendition of the lower thorax and abdomen. The model consisted of a foam core simulating the density of the soft tissue with a silicone rubber skin. Tissue expanders at different stages of enlargement were sculpted onto the model to determine the amount of additional skin required. The reconstructive design elaborated on the model was used during the 20-hour operation that resulted in the twins’ successful separation. We believe the creation of a customized multicomponent medical model enhances presurgical planning capabilities for complex reconstructive endeavors.

Hypophosphatemic rickets and craniosynostosis: a multicenter case series

OBJECTIVE This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. Parameters examined included sex, age at diagnosis of head shape anomaly, affected sutures, etiology of rickets, presenting symptoms, number and type of surgical interventions, and associated diagnoses. A review of the literature was performed to optimize treatment recommendations. RESULTS Ten patients were identified (8 males, 2 females). Age at presentation ranged from 1 to 9 years. The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominant hypophosphatemic rickets, and X-linked hypophosphatemic (XLH) rickets. Nine patients had undergone at least 1 cranial vault remodeling (CVR) surgery. Three patients underwent subsequent surgeries in later years. Four patients underwent formal intracranial pressure (ICP) monitoring, 3 of which revealed elevated ICP. Three patients were diagnosed with a Chiari Type I malformation. CONCLUSIONS Secondary craniosynostosis develops postnatally due to metabolic or mechanical factors. The most common metabolic cause is hypophosphatemic rickets, which has a variety of etiologies. Head shape changes occur later and with a more heterogeneous presentation compared with that of primary craniosynostosis. CVR may be required to prevent or relieve elevated ICP and abnormalities of the cranial vault. Children with hypophosphatemic rickets who develop head shape abnormalities should be promptly referred to a craniofacial specialist.

Neonatal Soft Tissue Reconstruction Using a Bioengineered Skin Substitute

Abstract Total parenteral nutrition (TPN) can be a lifesaving intervention for premature neonates and it is often delivered through peripheral access in this unique population. However, extravasation and tissue damage can result. Current literature lacks strong evidence regarding the treatment and reconstruction of such injuries in this age group. The authors present a patient with a 30-week gestational age premature newborn whom suffered an extravasation injury with peripherally administered TPN leading to full thickness skin and soft tissue necrosis of the dorsum of the right hand. This was serially debrided and ultimately repaired using Apligraf (Graftskin, Living Skin Equivalent, LSE; Organogenesis Inc, Canton, MA), which rapidly facilitated secondary healing.

Giant cell reparative granuloma of the pediatric cranium: case report and review of the literature

PurposeGiant cell reparative granulomas are rare bone tumors. Although benign, these tumors are locally destructive and can be highly vascular. They seldom occur in the cranial vault. We describe a multidisciplinary approach to a case of giant cell reparative granuloma of the cranium in a 3-year-old patient.Case reportA 3-year-old girl female referred to the pediatric neurosurgery department for evaluation of a retro-auricular mass. She had a history of recurrent otitis media with two subsequent courses of antibiotics without resolution. CT imaging revealed an expansive lesion located in the right mastoid region. Open surgical biopsy revealed a hemorrhagic tumor consistent with a giant cell reparative granuloma. Angiography identified a hypervascular tumor blush that was supplied by the occipital artery. Preoperative transcatheter embolization was performed followed by a multidisciplinary surgical resection and reconstruction. Blood loss was minimal, and the patient recovered well after surgery.ConclusionPreoperative endovascular embolization and a multidisciplinary intraoperative approach with primary resection and cranial vault reconstruction is an effective approach to hypervascular giant cell reparative granulomas.

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The Use of a Multi-Component Medical Model in the Separation of Omphalopagus Conjoined Twins

IntroductIon: The reconstructive challenge with omphalopagus conjoined twins lies not only with the division of shared abdominal organs but also with the closure of what is often a significant skin and abdominal wall defect. The separation procedure requires meticulous planning to ensure an optimal reconstructive design. Preoperative planning of complex reconstructive endeavors has increasingly benefited from the use of commercially available medical models. Custom multicomponent medical sculpture can further enhance the effective and functionality of preoperative planning.