Markedly Elevated Intracranial Pressure Treated With Cranial Vault Expansion, Instead of CSF Shunting, in a Child With Hurler-Scheie Syndrome and Multiple Suture Craniosynostosis.

Despite a known association of mucopolysaccharidoses (MPS) and craniosynostosis, treatment of elevated intracranial pressure (ICP) in these patients is primarily cerebrospinal fluid (CSF) shunting. We present a unique case of Hurler-Scheie syndrome with multisuture craniosynostosis and elevated ICP, without ventriculomegaly, where elevated ICP was successfully treated with extensive cranial vault expansion and shunt placement was avoided. Patients with MPS should be evaluated for craniosynostosis, and calvarial vault expansion may be considered as a viable treatment alternative to CSF shunting for elevated ICP in select patients.

Clinical Outcomes Utilizing a "Modified Latham" Appliance for Presurgical Infant Orthopedics in Patients With Unilateral Complete Cleft Lip and Palate.

Presurgical infant orthopedic manipulation is utilized prior to cleft lip/nasal repair to facilitate a gingivoperiosteoplasty (GPP) and primary nasolabial repairs. The Latham dentomaxillary advancement appliance uses a screw that must be tightened daily to approximate the cleft segments in unilateral complete clefts. Our cleft center has been utilizing a "modified Latham" appliance since 1987, including an orthodontic elastic power chain to close the gap in a shorter amount of time. We performed a retrospective chart review of all patients undergoing treatment at Johns Hopkins All Children's Hospital (JHACH) with a unilateral complete cleft lip and palate between 1987 and 2017. Patients were identified by the International Classification of Diseases, Ninth Revision code (749.21). The majority of the patients represent the experience of the senior authors (E.R. and R.F.). Two hundred and eighty-one patients with unilateral complete cleft lip/palate were identified. Seventy-five patients were treated with a "modified Latham" appliance prior to their lip repair. The "modified Latham" appliance remained in place on average 20.6 days (range: 4-82), and average hospital stay after placement was 1.18 days. Nearly 96% of patients underwent a successful GPP at the time of nasolabial repair. Modification of the Latham appliance by utilizing an elastic power chain and eliminating the screw allows rapid closure of the alveolar cleft with limited need for adjustments and outpatient visits. Direct approximation of the palatal segments allows successful completion of a GPP in 95.9% of patients with limited dissection.

Early postnatal cranial vault reduction and fixation surgery for severe hydrocephalic macrocephaly.

OBJECTIVE Infants with severe hydrocephalus and extreme macrocephaly typically undergo CSF diversion early in life, which can result in significant cranial deformity due to CSF overdrainage. In this scenario, overlap of the cranial plates can precede the development of secondary synostosis and/or severe, permanent cranial deformity. As a result, extensive cranial vault remodeling is sometimes undertaken later in life, which is often challenging and has been associated with mortality and a high morbidity rate. The authors have previously described a technique for early postnatal cranial vault reduction and fixation (CVRF), in which the calvarial bones are stabilized using absorbable fixation plates in the neonatal period, in an attempt to facilitate patient positioning, simplify hydrocephalus management, and improve cosmesis. Here, the authors describe their institutional experience managing patients with extreme neonatal hydrocephalus with CSF diversion, with and without CVRF, over the past 12 years. METHODS The authors retrospectively reviewed the charts of infants with extreme hydrocephalus (head circumference > 49 cm) treated at their children's hospital with ventriculoperitoneal shunting, with or without CVRF, between 2005 and 2017. Data collected included age, sex, etiology of hydrocephalus, type of CVRF performed (anterior, posterior, or combined), follow-up duration, orbitofrontal circumference, craniometric measurements, intraoperative blood loss, operative duration, and postoperative complications. Developmental data were collected using the third edition of the Ages and Stages Questionnaire. Photographic imaging was used to demonstrate esthetic outcomes, and family questionnaires were used to evaluate satisfaction with the esthetic outcome. RESULTS Eleven patients with extreme neonatal hydrocephalus underwent CSF shunting; 5 underwent shunting alone and 6 patients underwent shunting and CVRF. For patients who underwent shunting and CVRF, the median age at CVRF was 6 days and the median interval between shunt placement and CVRF was 2.5 days. The mean extent of calvarial vault volume reduction was 44.5% (± 3.9%). The mean duration of the CVRF procedure was 108 minutes, and 5 of 6 patients required intraoperative transfusion. Of the 5 patients who underwent shunting alone, 3 developed severe cranial deformities. Of 6 patients who underwent shunting and CVRF, 1 had a poor cosmetic outcome. In the shunting-alone group, 2 patients died and 1 required extensive cranial vault correction at 10 years of age. One patient in the shunting and CVRF group also died. CONCLUSIONS CVRF in combination with CSF shunting in the neonatal period can simplify the treatment of the rare case of severe hydrocephalic macrocephaly and leads to cosmetic outcomes that are considered good by their families.

A Simple Mandibular Distraction Protocol to Avoid Tracheostomy in Patients With Pierre Robin Sequence.

OBJECTIVE: Recent treatment goals for Pierre Robin sequence (PRS) focus on avoiding tracheostomy through modalities such as mandibular distraction osteogenesis (MDO). We primarily evaluated the efficacy of our straightforward MDO treatment protocol for resolution of PRS-associated airway obstruction while secondarily analyzing patient characteristics associated with success or failure of MDO. DESIGN: A retrospective chart review before and after treatment. SETTING: Tertiary institutional center and private practice setting. PATIENTS: All patients were diagnosed with PRS and treated with MDO, according to the MDO treatment protocol, by a single surgeon with the same operative technique from 1999 to 2013. A sample size of n = 38 met the inclusion criteria. Data assessed included tracheostomy status (pre-MDO, post-MDO, or none), microlaryngoscopy and bronchoscopy (MLB) findings, multipositional airway study results, clinical resolution of airway obstruction following MDO, and patient characteristics. MAIN OUTCOME MEASURE: Resolution of airway obstruction with avoidance of a tracheostomy. RESULTS: Prior to referral for MDO, five patients required urgent tracheostomy. Of patients without a pre-MDO tracheostomy (n = 33), two patients required tracheostomy post-MDO, while 94% avoided tracheostomy with clinical resolution of airway obstruction (n = 31). On secondary analysis, anatomic abnormalities diagnosed by MLB were associated with a higher rate of tracheostomy (P = .037), confirming the utility of preoperative evaluation with MLB; otherwise, no patient characteristics demonstrated significance in patient selection. Follow-up ranged from 6 months to 10 years (mean = 6.45 years, median = 7.61 years). CONCLUSIONS: Our treatment protocol demonstrates MDO is highly effective for resolving severe airway obstruction related to PRS. Based on secondary analysis, our simplified protocol does not require amendment.

Perioperative Outcomes and Management in Pediatric Complex Cranial Vault Reconstruction: A Multicenter Study from the Pediatric Craniofacial Collaborative Group.

BACKGROUND: The Pediatric Craniofacial Collaborative Group established the Pediatric Craniofacial Surgery Perioperative Registry to elucidate practices and outcomes in children with craniosynostosis undergoing complex cranial vault reconstruction and inform quality improvement efforts. The aim of this study is to determine perioperative management, outcomes, and complications in children undergoing complex cranial vault reconstruction across North America and to delineate salient features of current practices. METHODS: Thirty-one institutions contributed data from June 2012 to September 2015. Data extracted included demographics, perioperative management, length of stay, laboratory results, and blood management techniques employed. Complications and outlier events were described. Outcomes analyzed included total blood donor exposures, intraoperative and perioperative transfusion volumes, and length of stay outcomes. RESULTS: One thousand two hundred twenty-three cases were analyzed: 935 children aged less than or equal to 24 months and 288 children aged more than 24 months. Ninety-five percent of children aged less than or equal to 24 months and 79% of children aged more than 24 months received at least one transfusion. There were no deaths. Notable complications included cardiac arrest, postoperative seizures, unplanned postoperative mechanical ventilation, large-volume transfusion, and unplanned second surgeries. Utilization of blood conservation techniques was highly variable. CONCLUSIONS: The authors present a comprehensive description of perioperative management, outcomes, and complications from a large group of North American children undergoing complex cranial vault reconstruction. Transfusion remains the rule for the vast majority of patients. The occurrence of numerous significant complications together with large variability in perioperative management and outcomes suggest targets for improvement.

Familial gigantiform cementoma with brittle bone disease, pathologic fractures, and osteosarcoma: a possible explanation of an ancient mystery.

We describe four individuals of an African-American family with a predominantly diaphyseal bone disease associated with familial gigantiform cementoma (FGC), a disorder typically seen in Caucasians. The mother and her children presented with deformities of the jaws, abnormalities of the long bones, and pre-pubertal pathologic fractures. The index patient carried the diagnosis of osteosarcoma (OS). In addition, we provide a possible explanation for the jaw abnormalities of King Tutankhamen's father in the 18th dynasty in Egypt around 1350 BC.