Case reportAcute respiratory failure and sleep-disordered breathing in Arnold–Chiari malformation
Introduction
Arnold–Chiari type I malformation (ACM) is a congenital disease consisting of caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical canal often associated with syringomyelia. Sleep-disordered breathing, characterized by central and/or obstructive apneas, has occasionally been associated with this disease whereas acute respiratory failure (ARF) is considered a particularly rare first manifestation [1].
The present case illustrates the diagnostic challenge of unexplained ARF in a previously healthy young person, who was finally diagnosed with ACM type I. In addition, an electrophysiological investigation of the pathophysiological mechanisms underlying the patient's respiratory disorder is presented.
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Case report
The patient, a 32-year-old man, was referred for investigation of intractable hypercapnia after ICU hospitalization for acute hypercapnic respiratory failure. The patient was a heavy smoker and had an unremarkable medical history until 3 months earlier, when progressive fatigue and morning headaches developed. He was then prescribed the noradrenergic and specific serotonergic antidepressive agent mirtazapine.
All routine lab test results were within normal limits. Arterial blood gases analysis
Discussion
Respiratory disorders are well-recognized manifestations of ACM and accompany neurological findings, such as motor deficiency, sensory loss, lower cranial nerve palsies and a cerebellar syndrome. Acute respiratory failure may be brought on by: (1) aspiration; (2) respiratory infection; and (3) central causes, including medullary compression by ectopic cerebellar tonsils. Central causes, as discussed below, seem to be the case in our patient, in whom ARF was the first and predominant clinical
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