Case Presentation: A previously healthy 3-year-old female presented to our emergency department with a three week history of wheezing. The patient had been evaluated at an urgent care center at the onset of symptoms and prescribed an albuterol inhaler. Parents reported no improvement despite regular use of albuterol. The patient was reevaluated after one week; at that time she was started on azithromycin and prednisone for continued wheezing. Again parents noted no improvement. The patient was evaluated a third time after completing the course of steroids and azithromycin, and at that time the patient was started on amoxicillin.
The patient presented to our center with continued wheezing despite the previous treatments. In addition, three days prior to presentation the patient developed jerky movements of the face, hands, and upper extremities. Examination was notable for diffuse wheezing. The patient was observed to have intermittent twitching movements of both eyes and both sides of the mouth, which would last 15-30 seconds and resolve spontaneously. Lab work up revealed a total calcium of 3.4 mg/dL and an ionized calcium of 2.8 mg/dL. Electrocardiogram was notable for a prolonged QT interval. The patient was started on a calcium gluconate infusion with resolution of respiratory symptoms and twitching within 12 hours.
Additional lab work up revealed low parathyroid hormone and random cortisol, and elevated thyroid stimulating hormone, thyroid peroxidase antibody, thyroglobulin antibody, and antiadrenal antibody. A diagnosis of autoimmune polyendocrine syndrome type 1 (APS-1) was made on the basis of these laboratory findings.
Discussion: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder that presents in early childhood. The disease is characterized by dysfunction of multiple endocrine organs, including the parathyroid, thyroid, adrenal cortex, and/or ovaries. APS-1 is caused by a mutation in the autoimmune regulator gene (AIRE). The mutation results in formation of tissue specific autoantibodies with subsequent organ dysfunction. Clinically, APS-1 is defined as the presence of at least two of the following: hypoparathyroidism, adrenal insufficiency, or mucocutaneous candidiasis.
Hypoparathryoidism is considered a hallmark of APS-1 and is present in over 80% of cases. Patients with hypoparathyroidism due to APS-1 may presents signs and symptoms of hypocalcemia. As evidenced by our patient, these symptoms can include tetany, circumoral numbness, bronchospasm, and prolonged QT interval on electrocardiogram. Additional symptoms of hypocalcemia include altered mental status, seizure, or depressed cardiac function.
Conclusions: Wheezing is a common reason for medical evaluation, both in inpatient and outpatient settings. While hypocalcemia is an uncommon cause of bronchospasm, our case highlights the importance of considering alternative diagnoses when bronchospasm fails to respond to standard treatments.
To cite this abstract:Steed M. Not All Wheezes Are Created Equal: An Unusual Cause of Bronchospasm. Abstract published at Hospital Medicine 2016, March 6-9, San Diego, Calif. Abstract 913. Journal of Hospital Medicine. 2016; 11 (suppl 1). https://www.shmabstracts.com/abstract/not-all-wheezes-are-created-equal-an-unusual-cause-of-bronchospasm/. Accessed July 23, 2019.