Central sleep apnoea in Arnold-Chiari malformation: evidence of pathophysiological heterogeneity

Abstract

We report on the case of two young patients with type I Arnold-Chiari malformation (ACM), as revealed by a central sleep apnoea (CSA) syndrome without any other neurological defect. Case 1 was a 14-yr-old male patient, who developed severe alveolar hypoventilation and needed long-term mechanical ventilation via a tracheostomy. Case 2 was a 39-yr-old male patient, who developed features suggestive of sleep apnoea and responded to nasal continuous positive airway pressure ventilation despite the central type of apnoeas. These two cases illustrate the different pathophysiological mechanisms involved in CSA, namely a blunted chemical drive (in hypercapnic patients) and an increased chemical drive, which destabilizes the breathing pattern during sleep (in normo/hypocapnic patients). Central sleep apnoea can be the initial manifestation of Arnold-Chiari malformation and can lead to a life-threatening condition.

Antley-Bixler Syndrome, Description of Two New Cases and Review of the Literature

“…However, several attacks of apnea occurred after intubation. The probable causes of these symptoms were central nervous lesion due to the Arnold-Chiari malformation, arterial pulmonary hypertension and pneumonia [21, 22, 23]. The relationship between apnea and Arnold-Chiari malformation was not clear in this patient.…”

Chiari malformation and sleep related breathing disorders

“…The effect of surgery however differs among patients, and respiratory failure is a frequent complication of the treatment 1 6 8 9 28 – 32. Nocturnal respiratory depression was noted in 14% of operated patients in the study of Paul and colleagues,1 usually within the first 5 days after surgery, and was thought to be ascribed to oedema formation.…”

Severe sleep-disordered breathing in a patient with Brown–Vialetto–Van Laere syndrome: Polysomnographic findings

“…In addition, in patients with BVVL syndrome the motor components of the lower cranial nerves or their nuclei are involved, which are responsible for the laryngeal and pharyngeal muscle activity and coordination of inhalation and exhalation. It has been recognized that upper airway dysfunction is mainly associated with OSA [21]. The mild OSA in our patient may have been associated with a weakness of the laryngeal and pharyngeal muscles, which in turn may have obstructed airflow input and impeded thoracic expansion.…”