Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2009 Oct;66(4):429-34.
doi: 10.1203/PDR.0b013e3181b3b363.

Mammillary body and fornix injury in congenital central hypoventilation syndrome

Rajesh Kumar  1 , Kwanoo Lee, Paul M Macey, Mary A Woo, Ronald M Harper
Affiliations

Mammillary body and fornix injury in congenital central hypoventilation syndrome

Rajesh Kumar et al. Pediatr Res. 2009 Oct.

Abstract

Congenital central hypoventilation syndrome (CCHS) is accompanied by reduced ventilatory sensitivity to CO2 and O2, respiratory drive failure during sleep, impaired autonomic, fluid, and food absorption regulation, and affective and cognitive deficits, including memory deficiencies. The deficits likely derive from neural injury, reflected as structural damage and impaired functional brain responses to ventilatory and autonomic challenges. Brain structures playing essential memory roles, including the hippocampus and anterior thalamus, are damaged in CCHS. Other memory formation circuitry, the fornix and mammillary bodies, have not been evaluated. We collected two high-resolution T1-weighted image series from 14 CCHS and 31 control subjects, using a 3.0-Tesla magnetic resonance imaging scanner. Image series were averaged and reoriented to a standard template; areas containing the mammillary bodies and fornices were over sampled, and body volumes and fornix cross-sectional areas were calculated and compared between groups. Both left and right mammillary body volumes and fornix cross-sectional areas were significantly reduced in CCHS over control subjects, controlling for age, gender, and intracranial volume. Damage to these structures may contribute to memory deficiencies found in CCHS. Hypoxic processes, together with diminished neuroprotection from micronutrient deficiencies secondary to fluid and dietary absorption issues, may contribute to the injury.

PubMed Disclaimer

Figures

Figure 1
Figure 1
High-resolution T1-weighted images show mammillary bodies in a control (A; L = Left, R = Right) and CCHS (B) subject (white rectangles). Brain images (C) and (D) show magnified areas (2.5 times) within the rectangles of the control (A) and CCHS (B). The right mammillary body in CCHS subject is smaller, and the left body is much smaller, compared to the control subject (C vs D, white circles). The scale refers to the top panel images.
Figure 2
Figure 2
Oversampled high-resolution T1-weighted images show fornix cross-sectional areas in a control (A) and CCHS (B) subject (white rectangles). Images (C) and (D) show magnified areas (3.0 times) within the rectangles of the control (A) and CCHS subject (B). Both left and right fornix cross-sectional areas are smaller in the CCHS compared to the control subject (C vs D, white circles). Figure conventions are the same as in Figure. 1.
Figure 3
Figure 3
Individual mammillary body volumes (A), and fornix cross-sectional areas (B), from control (×) and CCHS (○) subjects. Both mammillary body volumes and fornix cross-sectional areas are significantly reduced in CCHS over control subjects, controlling for age, gender, and total intracranial volume.
See this image and copyright information in PMC

References

    1. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society. Am J Respir Crit Care Med. 1999;160:368–373. - PubMed
    1. Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MA, Epstein RA, Mellins RB. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine (Baltimore) 1978;57:517–526. - PubMed
    1. Paton JY, Swaminathan S, Sargent CW, Keens TG. Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome. Am Rev Respir Dis. 1989;140:368–372. - PubMed
    1. Vanderlaan M, Holbrook CR, Wang M, Tuell A, Gozal D. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004;37:217–229. - PubMed
    1. Ruof H, Hammer J, Tillmann B, Ghelfi D, Weber P. Neuropsychological, behavioral, and adaptive functioning of Swiss children with congenital central hypoventilation syndrome. J Child Neurol. 2008;23:1254–1259. - PubMed

Publication types