Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome
Background: Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the SMAD4 gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome. Case Presentation: We report...
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| Veröffentlicht in: | Pediatric allergy, immunology, and pulmonology immunology, and pulmonology, 2021-06, Vol.34 (2), p.83-87 |
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| container_title | Pediatric allergy, immunology, and pulmonology |
| container_volume | 34 |
| creator | Jeon, Min Jin Kim, Min Jung Kim, Ji Hye Park, Ji Soo Yim, Jisook Kim, Myungshin Kwon, Seong Keun Lee, Soyoung Ko, Jung Min Chae, Jong-Hee Suh, Dong In |
| description | Background:
Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the
SMAD4
gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome.
Case Presentation:
We report the case of a 2-month-old boy who initially presented with severe multilevel airway stenosis, dysmorphic face, and multiple abnormalities. Lung fibrosis and mild aortic valve stenosis were additionally observed on follow-up examinations. A heterozygous missense variant, c.1499T>C (
p.Ile500Thr
), in
SMAD4
was identified through exome sequencing. Tracheostomy was performed, and the patient has maintained stable respiration through a customized tracheostomy tube with a home ventilator.
Conclusions:
Patients who have dysmorphic face, airway stenosis, and cardiovascular anomalies that do not fit the diagnosis of common syndromes should be evaluated for rare diseases, including Myhre syndrome. Since respiratory complications can be life threatening, early diagnosis and suitable intervention are necessary. |
| doi_str_mv | 10.1089/ped.2021.0029 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8329727</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2542438911</sourcerecordid><originalsourceid>FETCH-LOGICAL-c459t-531c4e1d91c700114a8878a4ae8264ba7c4b994600d6e76c03388648d07954803</originalsourceid><addsrcrecordid>eNqFkc1rFDEYhwdRbKk9epWAFy-z5mtmkovQLn4UWjx0BW8hk3m3m5JJ1iTTMv71Zti6qBdzSd7keX_k5amq1wSvCBby_R6GFcWUrDCm8ll1SklDakapeH48k-8n1XlK97gsJllpe1mdME44awU7rdzN5LJ18AAOXdj4qGd0m8GHZBO6BOvv0OW81ynBgPoZabSeUg6j_VnqTdRmB2GpZ7SZekDWI-3Rld9qn9GjzTt0M-8ioNvZDzGM8Kp6sdUuwfnTflZ9-_Rxs_5SX3_9fLW-uK4Nb2SuG0YMBzJIYjqMCeFaiE5orkHQlve6M7yXkrcYDy10rcGMCdFyMeBONlxgdlZ9OOTup36EwYDPUTu1j3bUcVZBW_X3i7c7dRcelGBUdrQrAe-eAmL4MUHKarTJgHPaQ5iSog1nvGFSioK-_Qe9D1P0ZbyFopwJSUih6gNlYkgpwvb4GYLVolIVlWpRqRaVhX_z5wRH-re4ArADsFxr752FHmL-T-wvZl2qoA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2542438911</pqid></control><display><type>article</type><title>Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome</title><source>MEDLINE</source><source>Alma/SFX Local Collection</source><creator>Jeon, Min Jin ; Kim, Min Jung ; Kim, Ji Hye ; Park, Ji Soo ; Yim, Jisook ; Kim, Myungshin ; Kwon, Seong Keun ; Lee, Soyoung ; Ko, Jung Min ; Chae, Jong-Hee ; Suh, Dong In</creator><creatorcontrib>Jeon, Min Jin ; Kim, Min Jung ; Kim, Ji Hye ; Park, Ji Soo ; Yim, Jisook ; Kim, Myungshin ; Kwon, Seong Keun ; Lee, Soyoung ; Ko, Jung Min ; Chae, Jong-Hee ; Suh, Dong In</creatorcontrib><description>Background:
Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the
SMAD4
gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome.
Case Presentation:
We report the case of a 2-month-old boy who initially presented with severe multilevel airway stenosis, dysmorphic face, and multiple abnormalities. Lung fibrosis and mild aortic valve stenosis were additionally observed on follow-up examinations. A heterozygous missense variant, c.1499T>C (
p.Ile500Thr
), in
SMAD4
was identified through exome sequencing. Tracheostomy was performed, and the patient has maintained stable respiration through a customized tracheostomy tube with a home ventilator.
Conclusions:
Patients who have dysmorphic face, airway stenosis, and cardiovascular anomalies that do not fit the diagnosis of common syndromes should be evaluated for rare diseases, including Myhre syndrome. Since respiratory complications can be life threatening, early diagnosis and suitable intervention are necessary.</description><identifier>ISSN: 2151-321X</identifier><identifier>EISSN: 2151-3228</identifier><identifier>DOI: 10.1089/ped.2021.0029</identifier><identifier>PMID: 34143683</identifier><language>eng</language><publisher>United States: Mary Ann Liebert, Inc., publishers</publisher><subject>Abnormalities ; Anomalies ; Aorta ; Aortic valve ; Case Reports ; Child, Preschool ; Children ; Complications ; Connective tissue diseases ; Connective tissues ; Constriction, Pathologic ; Cryptorchidism ; Customization ; Diagnosis ; Facies ; Fibrosis ; Growth Disorders ; Hand Deformities, Congenital ; Heart valves ; Humans ; Infant ; Intellectual Disability ; Male ; Ostomy ; Rare diseases ; Respiratory tract ; Smad4 protein ; Stenosis ; Tracheostomy ; Tracheotomy</subject><ispartof>Pediatric allergy, immunology, and pulmonology, 2021-06, Vol.34 (2), p.83-87</ispartof><rights>2021, Mary Ann Liebert, Inc., publishers</rights><rights>Copyright Mary Ann Liebert, Inc. Jun 2021</rights><rights>Copyright 2021, Mary Ann Liebert, Inc., publishers 2021 Mary Ann Liebert, Inc., publishers</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c459t-531c4e1d91c700114a8878a4ae8264ba7c4b994600d6e76c03388648d07954803</citedby><cites>FETCH-LOGICAL-c459t-531c4e1d91c700114a8878a4ae8264ba7c4b994600d6e76c03388648d07954803</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34143683$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jeon, Min Jin</creatorcontrib><creatorcontrib>Kim, Min Jung</creatorcontrib><creatorcontrib>Kim, Ji Hye</creatorcontrib><creatorcontrib>Park, Ji Soo</creatorcontrib><creatorcontrib>Yim, Jisook</creatorcontrib><creatorcontrib>Kim, Myungshin</creatorcontrib><creatorcontrib>Kwon, Seong Keun</creatorcontrib><creatorcontrib>Lee, Soyoung</creatorcontrib><creatorcontrib>Ko, Jung Min</creatorcontrib><creatorcontrib>Chae, Jong-Hee</creatorcontrib><creatorcontrib>Suh, Dong In</creatorcontrib><title>Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome</title><title>Pediatric allergy, immunology, and pulmonology</title><addtitle>Pediatr Allergy Immunol Pulmonol</addtitle><description>Background:
Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the
SMAD4
gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome.
Case Presentation:
We report the case of a 2-month-old boy who initially presented with severe multilevel airway stenosis, dysmorphic face, and multiple abnormalities. Lung fibrosis and mild aortic valve stenosis were additionally observed on follow-up examinations. A heterozygous missense variant, c.1499T>C (
p.Ile500Thr
), in
SMAD4
was identified through exome sequencing. Tracheostomy was performed, and the patient has maintained stable respiration through a customized tracheostomy tube with a home ventilator.
Conclusions:
Patients who have dysmorphic face, airway stenosis, and cardiovascular anomalies that do not fit the diagnosis of common syndromes should be evaluated for rare diseases, including Myhre syndrome. Since respiratory complications can be life threatening, early diagnosis and suitable intervention are necessary.</description><subject>Abnormalities</subject><subject>Anomalies</subject><subject>Aorta</subject><subject>Aortic valve</subject><subject>Case Reports</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>Complications</subject><subject>Connective tissue diseases</subject><subject>Connective tissues</subject><subject>Constriction, Pathologic</subject><subject>Cryptorchidism</subject><subject>Customization</subject><subject>Diagnosis</subject><subject>Facies</subject><subject>Fibrosis</subject><subject>Growth Disorders</subject><subject>Hand Deformities, Congenital</subject><subject>Heart valves</subject><subject>Humans</subject><subject>Infant</subject><subject>Intellectual Disability</subject><subject>Male</subject><subject>Ostomy</subject><subject>Rare diseases</subject><subject>Respiratory tract</subject><subject>Smad4 protein</subject><subject>Stenosis</subject><subject>Tracheostomy</subject><subject>Tracheotomy</subject><issn>2151-321X</issn><issn>2151-3228</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1rFDEYhwdRbKk9epWAFy-z5mtmkovQLn4UWjx0BW8hk3m3m5JJ1iTTMv71Zti6qBdzSd7keX_k5amq1wSvCBby_R6GFcWUrDCm8ll1SklDakapeH48k-8n1XlK97gsJllpe1mdME44awU7rdzN5LJ18AAOXdj4qGd0m8GHZBO6BOvv0OW81ynBgPoZabSeUg6j_VnqTdRmB2GpZ7SZekDWI-3Rld9qn9GjzTt0M-8ioNvZDzGM8Kp6sdUuwfnTflZ9-_Rxs_5SX3_9fLW-uK4Nb2SuG0YMBzJIYjqMCeFaiE5orkHQlve6M7yXkrcYDy10rcGMCdFyMeBONlxgdlZ9OOTup36EwYDPUTu1j3bUcVZBW_X3i7c7dRcelGBUdrQrAe-eAmL4MUHKarTJgHPaQ5iSog1nvGFSioK-_Qe9D1P0ZbyFopwJSUih6gNlYkgpwvb4GYLVolIVlWpRqRaVhX_z5wRH-re4ArADsFxr752FHmL-T-wvZl2qoA</recordid><startdate>20210601</startdate><enddate>20210601</enddate><creator>Jeon, Min Jin</creator><creator>Kim, Min Jung</creator><creator>Kim, Ji Hye</creator><creator>Park, Ji Soo</creator><creator>Yim, Jisook</creator><creator>Kim, Myungshin</creator><creator>Kwon, Seong Keun</creator><creator>Lee, Soyoung</creator><creator>Ko, Jung Min</creator><creator>Chae, Jong-Hee</creator><creator>Suh, Dong In</creator><general>Mary Ann Liebert, Inc., publishers</general><general>Mary Ann Liebert, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7U7</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20210601</creationdate><title>Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome</title><author>Jeon, Min Jin ; Kim, Min Jung ; Kim, Ji Hye ; Park, Ji Soo ; Yim, Jisook ; Kim, Myungshin ; Kwon, Seong Keun ; Lee, Soyoung ; Ko, Jung Min ; Chae, Jong-Hee ; Suh, Dong In</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c459t-531c4e1d91c700114a8878a4ae8264ba7c4b994600d6e76c03388648d07954803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Abnormalities</topic><topic>Anomalies</topic><topic>Aorta</topic><topic>Aortic valve</topic><topic>Case Reports</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>Complications</topic><topic>Connective tissue diseases</topic><topic>Connective tissues</topic><topic>Constriction, Pathologic</topic><topic>Cryptorchidism</topic><topic>Customization</topic><topic>Diagnosis</topic><topic>Facies</topic><topic>Fibrosis</topic><topic>Growth Disorders</topic><topic>Hand Deformities, Congenital</topic><topic>Heart valves</topic><topic>Humans</topic><topic>Infant</topic><topic>Intellectual Disability</topic><topic>Male</topic><topic>Ostomy</topic><topic>Rare diseases</topic><topic>Respiratory tract</topic><topic>Smad4 protein</topic><topic>Stenosis</topic><topic>Tracheostomy</topic><topic>Tracheotomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jeon, Min Jin</creatorcontrib><creatorcontrib>Kim, Min Jung</creatorcontrib><creatorcontrib>Kim, Ji Hye</creatorcontrib><creatorcontrib>Park, Ji Soo</creatorcontrib><creatorcontrib>Yim, Jisook</creatorcontrib><creatorcontrib>Kim, Myungshin</creatorcontrib><creatorcontrib>Kwon, Seong Keun</creatorcontrib><creatorcontrib>Lee, Soyoung</creatorcontrib><creatorcontrib>Ko, Jung Min</creatorcontrib><creatorcontrib>Chae, Jong-Hee</creatorcontrib><creatorcontrib>Suh, Dong In</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Pediatric allergy, immunology, and pulmonology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jeon, Min Jin</au><au>Kim, Min Jung</au><au>Kim, Ji Hye</au><au>Park, Ji Soo</au><au>Yim, Jisook</au><au>Kim, Myungshin</au><au>Kwon, Seong Keun</au><au>Lee, Soyoung</au><au>Ko, Jung Min</au><au>Chae, Jong-Hee</au><au>Suh, Dong In</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome</atitle><jtitle>Pediatric allergy, immunology, and pulmonology</jtitle><addtitle>Pediatr Allergy Immunol Pulmonol</addtitle><date>2021-06-01</date><risdate>2021</risdate><volume>34</volume><issue>2</issue><spage>83</spage><epage>87</epage><pages>83-87</pages><issn>2151-321X</issn><eissn>2151-3228</eissn><abstract>Background:
Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the
SMAD4
gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome.
Case Presentation:
We report the case of a 2-month-old boy who initially presented with severe multilevel airway stenosis, dysmorphic face, and multiple abnormalities. Lung fibrosis and mild aortic valve stenosis were additionally observed on follow-up examinations. A heterozygous missense variant, c.1499T>C (
p.Ile500Thr
), in
SMAD4
was identified through exome sequencing. Tracheostomy was performed, and the patient has maintained stable respiration through a customized tracheostomy tube with a home ventilator.
Conclusions:
Patients who have dysmorphic face, airway stenosis, and cardiovascular anomalies that do not fit the diagnosis of common syndromes should be evaluated for rare diseases, including Myhre syndrome. Since respiratory complications can be life threatening, early diagnosis and suitable intervention are necessary.</abstract><cop>United States</cop><pub>Mary Ann Liebert, Inc., publishers</pub><pmid>34143683</pmid><doi>10.1089/ped.2021.0029</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2151-321X |
| ispartof | Pediatric allergy, immunology, and pulmonology, 2021-06, Vol.34 (2), p.83-87 |
| issn | 2151-321X 2151-3228 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8329727 |
| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Abnormalities Anomalies Aorta Aortic valve Case Reports Child, Preschool Children Complications Connective tissue diseases Connective tissues Constriction, Pathologic Cryptorchidism Customization Diagnosis Facies Fibrosis Growth Disorders Hand Deformities, Congenital Heart valves Humans Infant Intellectual Disability Male Ostomy Rare diseases Respiratory tract Smad4 protein Stenosis Tracheostomy Tracheotomy |
| title | Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome |
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