Objective: This study is a cross-sectional retrospective cohort study to determine the incidence of co-morbidities in pediatric patients with a diagnosis of Chiari malformation (CM) and/or tethered cord at our institution. Background: Chiari malformations are structural defects of the hindbrain which cause displacement of the cerebellum distally through the foramen magnum. This malformation may be asymptomatic or present clinically in late childhood or during the early adolescent period with a constellation of neurological symptoms. In addition, tethered cord is associated with Chiari malformations. Mast cells are most commonly associated with allergic physiology; however, these multifunctional cells are an essential part of innate and adaptive immunity and are key mediators for tissue remodeling, wound healing and growth. Idiopathic mast cell activation syndrome (MCAS) is a recently identified pathologic mast cell syndrome characterized by the constitutively aberrant release of mast cell mediators which cause chronic multisystem symptoms, similar to systemic mastocytosis (SM). In addition to MCAS, mast cells are also now recognized as contributing to the clinical manifestations of fibromyalgia, IBS, hypermobility-type EDS, and dysautonomia. In our experience, we found that patients with a diagnosis of Chiari malformation (CM) and/or tethered cord had a high incidence of co-morbidities; specifically, idiopathic mast cell activation syndrome (MCAS), Ehlers-Danlos Syndrome (EDS), and Postural Orthostatic Tachycardia Syndrome (POTS). Methods: The hospital electronic medical record (EMR) was used to identify the pediatric patients in our institution with a diagnosis of Chiari malformation (CM) and/or tethered cord. We conducted a cross-sectional retrospective chart review and identified a cohort of (n = 18) with a diagnosis of Chiari malformation and/or tethered cord from 2016 to 2018. Clinical information abstracted from the EMR include the patient’s: age, sex, ethnicity, admission diagnosis, co-morbid medical conditions, allergies, medications, past medical history and surgical history. Results: In our patient population, individuals with a diagnosis of Chiari malformation and/or tethered cord have a higher incidence of idiopathic mast cell activation syndrome (MCAS), Ehlers-Danlos Syndrome (EDS), and Postural Orthostatic Tachycardia Syndrome (POTS). Chiari malformation was identified in 83.3% of patients and tethered cord was observed in 50% of patients. The cohort of 18 patients in our study had at least one co-morbid in association with Chiari malformation and/or tethered cord (EDS, n=15 or 83.3%), (MCAS, n =8 or 44.4%), and (POTS, n=8 or 44.4%). Conclusions: There is a significant clinical correlation between Chiari malformation and/or tethered cord and MCAS, EDS, and POTS in our patient population. Therefore, it is important for clinicians who manage Chiari malformations and tethered cord to consider the above stated co-morbidities and their subsequent complications.

Table 1

Chiari malformations and tethered cord patient summary with co-morbidities

Chiari malformation (CM), tethered cord (TC), idiopathic mast cell activation syndrome (MCAS), Ehlers-Danlos Syndrome (EDS), and Postural Orthostatic Tachycardia Syndrome (POTS).

Table 1

Chiari malformations and tethered cord patient summary with co-morbidities

Chiari malformation (CM), tethered cord (TC), idiopathic mast cell activation syndrome (MCAS), Ehlers-Danlos Syndrome (EDS), and Postural Orthostatic Tachycardia Syndrome (POTS).

Close modal