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Hypoventilation and sleep apnoea in spina bifida - an unrecognised problem?
Cerebrospinal Fluid Research volume 6, Article number: S39 (2009)
Background
Hypoventilation and sleep apnoea syndromes are associated with increased body mass index (BMI) and Chiari malformation, both of which are common in the spina bifida (SB) population. Despite a number of published case reports, recent literature on the management of SB does not specifically mention such conditions. We discuss the presenting symptoms, aetiology, investigation and outcomes of our affected patients.
Materials and methods
Chart review of patients considered for ventilatory support (n = 6,) identified from the database.
Results
Patients complained of a combination of problems, including respiratory symptoms, resistant lower limb oedema, and persistent erythrocytosis. Episodes of unresponsiveness and headache were also noted, and hydrocephalus/shunt malfunction was considered a differential in some cases. Five patients had shunts in place, and four patients had undergone scans confirming Chiari malformation.
Following appropriate investigation, including pulmonary function testing and sleep studies, three patients were commenced on nocturnal ventilatory support, with symptomatic improvement. The remainder are under regular review by the respiratory physicians with a view to future treatment.
Conclusion
A low threshold for further investigation and referral should be employed in SB patients with symptoms suggestive of respiratory dysfunction. Those felt appropriate for nocturnal ventilatory support can have significantly improved Quality of Life and symptom resolution with treatment. Both investigaton and treatment are non-invasive and widely available.
This is particularly important where symptoms could be attributed to Chiari malformation or decompensation of arrested hydrocephalus, as the patient may avoid the risks attendant to neurosurgical procedures.
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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution 2.0 International License (https://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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Hillan, J., McCann, J.P. Hypoventilation and sleep apnoea in spina bifida - an unrecognised problem?. Fluids Barriers CNS 6 (Suppl 2), S39 (2009). https://doi.org/10.1186/1743-8454-6-S2-S39
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DOI: https://doi.org/10.1186/1743-8454-6-S2-S39