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Case Reports
Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome: A Case Report.
- Mariko Hakamata, Satoshi Hokari, Yasuyoshi Ohshima, Masayo Kagami, Sakae Saito, Ikuko N Motoike, Taiki Abe, Nobumasa Aoki, Masachika Hayashi, Satoshi Watanabe, Toshiyuki Koya, and Toshiaki Kikuchi.
- Department of Respiratory Medicine and Infectious Diseases, Niigata University Graduate School of Medical and Dental Sciences, Japan.
- Intern. Med. 2021 Jun 15; 60 (12): 1921-1926.
AbstractA 31-year-old woman who was clinically diagnosed with Silver-Russell syndrome (SRS) in childhood was admitted with complaints of dyspnea. She had hypercapnic respiratory failure accompanied by nocturnal hypoventilation. Computed tomography revealed systemic muscle atrophy and superior mesenteric artery syndrome; however, the bilateral lung fields were normal. She was treated with nocturnal noninvasive positive pressure ventilation and showed improvement of respiratory failure. In this case, loss of methylation on chromosome 11p15 and maternal uniparental disomy of chromosome 7, which are the common causes of SRS, were not detected. This is a rare case of adult SRS manifesting as chronic hypercapnic respiratory failure.
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