Chronic hypercapnic respiratory failure in an adult patient with silver-russell syndrome

Mariko Hakamata; Satoshi Hokari; Yasuyoshi Ohshima; Masayo Kagami; Sakae Saito; Ikuko N. Motoike; Taiki Abe; Nobumasa Aoki; Masachika Hayashi; Satoshi Watanabe; Toshiyuki Koya; Toshiaki Kikuchi

doi:10.2169/internalmedicine.5479-20

Chronic hypercapnic respiratory failure in an adult patient with silver-russell syndrome

Mariko Hakamata, Satoshi Hokari, Yasuyoshi Ohshima, Masayo Kagami, Sakae Saito, Ikuko N. Motoike, Taiki Abe, Nobumasa Aoki, Masachika Hayashi, Satoshi Watanabe, Toshiyuki Koya, Toshiaki Kikuchi

Research output: Contribution to journal › Article › peer-review

Abstract

A 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.

Original language	English
Pages (from-to)	1921-1926
Number of pages	6
Journal	Internal Medicine
Volume	60
Issue number	12
DOIs	https://doi.org/10.2169/internalmedicine.5479-20
Publication status	Published - 2021

Keywords

Hypercapnic respiratory failure
Nocturnal hypoventilation
Noninvasive positive pressure ventilation
Silver-Russell syndrome
Superior mesenteric artery syndrome

Access to Document

10.2169/internalmedicine.5479-20

Cite this

@article{7771edba19d147b6826de97e1399bdb4,

title = "Chronic hypercapnic respiratory failure in an adult patient with silver-russell syndrome",

abstract = "A 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.",

keywords = "Hypercapnic respiratory failure, Nocturnal hypoventilation, Noninvasive positive pressure ventilation, Silver-Russell syndrome, Superior mesenteric artery syndrome",

author = "Mariko Hakamata and Satoshi Hokari and Yasuyoshi Ohshima and Masayo Kagami and Sakae Saito and Motoike, {Ikuko N.} and Taiki Abe and Nobumasa Aoki and Masachika Hayashi and Satoshi Watanabe and Toshiyuki Koya and Toshiaki Kikuchi",

note = "Funding Information: This work was supported by a KAKENHI Grant-in-Aid for Young Scientists [17K15824] from the Japan Society for the Promotion of Science (JSPS; to YO). Publisher Copyright: {\textcopyright} 2021 The Japanese Society of Internal Medicine.",

year = "2021",

doi = "10.2169/internalmedicine.5479-20",

language = "English",

volume = "60",

pages = "1921--1926",

journal = "Internal Medicine",

issn = "0918-2918",

publisher = "Japanese Society of Internal Medicine",

number = "12",

}

TY - JOUR

T1 - Chronic hypercapnic respiratory failure in an adult patient with silver-russell syndrome

AU - Hakamata, Mariko

AU - Hokari, Satoshi

AU - Ohshima, Yasuyoshi

AU - Kagami, Masayo

AU - Saito, Sakae

AU - Motoike, Ikuko N.

AU - Abe, Taiki

AU - Aoki, Nobumasa

AU - Hayashi, Masachika

AU - Watanabe, Satoshi

AU - Koya, Toshiyuki

AU - Kikuchi, Toshiaki

N1 - Funding Information: This work was supported by a KAKENHI Grant-in-Aid for Young Scientists [17K15824] from the Japan Society for the Promotion of Science (JSPS; to YO). Publisher Copyright: © 2021 The Japanese Society of Internal Medicine.

PY - 2021

Y1 - 2021

N2 - A 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.

AB - A 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.

KW - Hypercapnic respiratory failure

KW - Nocturnal hypoventilation

KW - Noninvasive positive pressure ventilation

KW - Silver-Russell syndrome

KW - Superior mesenteric artery syndrome

UR - http://www.scopus.com/inward/record.url?scp=85108385907&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85108385907&partnerID=8YFLogxK

U2 - 10.2169/internalmedicine.5479-20

DO - 10.2169/internalmedicine.5479-20

M3 - Article

C2 - 33518558

AN - SCOPUS:85108385907

SN - 0918-2918

VL - 60

SP - 1921

EP - 1926

JO - Internal Medicine

JF - Internal Medicine

IS - 12

ER -

Chronic hypercapnic respiratory failure in an adult patient with silver-russell syndrome

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this