Introduction

The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS.

Methods

We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion.

Results

Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS.

Conclusion

Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management.

Background

Methamphetamine (MAP) users present to the emergency department (ED) for myriad reasons, including trauma, chest pain, and psychosis. The purpose of this study is to determine how their prevalence, demographics, and resource utilization have changed.

Methods

Retrospective review of MAP patients over 3 months in 2016. Demographics, mode of arrival, presenting complaints, disposition, and concomitant cocaine/ethanol use were compared to a 1996 study at the same ED.

Results

638 MAP-positive patients, 3,013 toxicology screens, and 20,203 ED visits represented an increase in prevalence compared to 1996: 461 MAP-positive patients, 3,102 screens, and 32,156 visits. MAP patients were older compared to the past. Mode of arrival was most frequently by ambulance but at a lower proportion than 1996, as was the proportion of MAP patients with positive cocaine toxicology screens and ethanol coingestion. Admission rate was lower compared to the past, as was discharge to jail. The proportion of MAP patients presenting with blunt trauma was lower compared to the past and higher for chest pain.

Conclusion

A significant increase in the prevalence of MAP-positive patients was found. Differences in presenting complaints and resource utilization may reflect the shifting demographics of MAP users, as highlighted by an older patient population relative to the past.