Functional Brain Deficits in Congenital Central Hypoventilation Syndrome: Commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500.

Gaultier, Claude

doi:10.1203/01.PDR.0000158667.41282.F1

Commentary
Published: 01 April 2005

Functional Brain Deficits in Congenital Central Hypoventilation Syndrome: Commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500.

Claude Gaultier^1,1

Pediatric Research volume 57, pages 471–472 (2005)Cite this article

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The present issue of Pediatric Research provides two reports of functional brain deficits detected by functional magnetic resonance imaging (fMRI) in patients with congenital central hypoventilation syndrome (CCHS) compared with age-matched controls (1,2). Woo et al. (1) used cold pressure challenge and Macey et al. (2) hyperoxia to induce these deficits. The results constitute the first evidence of functional brain abnormalities in specific locations, thereby providing information on the brain sites that generate some of the clinical characteristics of CCHS (3,4).

CCHS is a very rare disorder of autonomic nervous system control (5). Sleep-dependent hypoventilation, especially during nonrapid-eye-movement sleep, is the hallmark of CCHS (3,4,6). There is considerable within-and between-patient variability in the severity of hypoventilation (3,4,6). Hypoventilation is present during wakefulness in the most severe cases (3,4). A functional characteristic of CCHS patients is absence or marked blunting of the ventilatory response to sustained hypercapnia and to sustained hypoxia (7). Peripheral chemoreceptors are functional in the milder cases (8). In addition to respiratory abnormalities, CCHS patients have functional disorders of the autonomic control of heart rate and blood pressure, with a reduced influence of breathing on cardiac rate variation (9,10), diminished blood pressure dipping at night (11), and reduced short-term variability of heart rate and blood pressure (12). Deficiencies also include loss of dyspnea (13) and reduced anxiety (14). This complex phenotype of CCHS suggests widespread functional brain deficits, although these had not been investigated until the present studies by Woo et al. (1) and Macey et al. (2).

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Inserm U676, Service de Physiologie, Hôpital Robert Debré, 48 Brd Serurier, Paris, 75019, France
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Gaultier, C. Functional Brain Deficits in Congenital Central Hypoventilation Syndrome: Commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500.. Pediatr Res 57, 471–472 (2005). https://doi.org/10.1203/01.PDR.0000158667.41282.F1

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Received: 04 January 2005
Accepted: 19 January 2005
Issue date: 01 April 2005
DOI: https://doi.org/10.1203/01.PDR.0000158667.41282.F1

Functional Brain Deficits in Congenital Central Hypoventilation Syndrome: Commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500.

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