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.

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.