Mammillary Body and Fornix Injury in Congenital Central Hypoventilation Syndrome

• Published in: Pediatric research Vol. 66; no. 4; pp. 429 - 434
• Main Authors: Kumar, Rajesh, Lee, Kwanoo, Macey, Paul M, Woo, Mary A, Harper, Ronald M
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.10.2009; Lippincott Williams & Wilkins
• Subjects: Adolescent; Biological and medical sciences; Brain Mapping; Female; Fornix, Brain - pathology; General aspects; Humans; Image Processing, Computer-Assisted - methods; Learning Disabilities - pathology; Magnetic Resonance Imaging - methods; Male; Mammillary Bodies - pathology; Medical sciences; Medicine; Medicine & Public Health; Memory Disorders - pathology; Pediatric Surgery; Pediatrics; Sleep Apnea, Central - congenital; Sleep Apnea, Central - pathology; Syndrome; translational-investigation; Fornix; Pediatrics; Congenital; Injury; Central nervous system; Lesion; Body; Congenital disease; Trauma; Syndrome; Encephalon
• ISSN: 0031-3998; 1530-0447; 1530-0447
• DOI: 10.1203/PDR.0b013e3181b3b363

Congenital central hypoventilation syndrome (CCHS) is accompanied by reduced ventilatory sensitivity to CO 2 and O 2 , 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.