Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review
Abstract Background Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. Cap structures consist of disarranged thin filaments with enlarged Z discs. The clinical presentation and natural history of cap myopathy is variable and overl...
Gespeichert in:
Veröffentlicht in: | Pediatric neurology 2014-08, Vol.51 (2), p.192-197 |
---|---|
Hauptverfasser: | , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 197 |
---|---|
container_issue | 2 |
container_start_page | 192 |
container_title | Pediatric neurology |
container_volume | 51 |
creator | Piteau, Shalea J., MD, MSc Rossiter, John P., MB, BCh, PhD Smith, R. Garth, MBBS MacKenzie, Jennifer J., MD |
description | Abstract Background Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. Cap structures consist of disarranged thin filaments with enlarged Z discs. The clinical presentation and natural history of cap myopathy is variable and overlaps with other congenital myopathies. Methods We describe a 10-year-old boy with cap myopathy and contrast him with 20 other individuals reported in the literature. Results Our patient presented at birth with hypotonia and weakness and subsequently developed respiratory failure in infancy. He is ambulatory but has increasing fatigue and requires a wheelchair by midafternoon. His muscle biopsy at 3 months revealed a nemaline myopathy and secondary fiber-type disproportion with type 1 hypotrophy and predominance. A repeat muscle biopsy at age 6 years revealed numerous peripherally located cap-like structures containing nemaline rods and exhibited a spectrum of Z-disk and myofibrillar abnormalities. Molecular genetic testing was performed for NEB , TPM2 , TPM3 , ACTA1 , TNNT1 , SEPN1 , SMN1 , DMPK , FSHMD1A , and mtDNA . A known pathogenic mutation, c.1152+1G>A, and a previously unreported variant, c.1782+4_1782+5delAG, were detected in NEB. Conclusion Our patient has a more severe phenotype than most reported patients and is the first patient with cap myopathy to have a mutation in NEB . Our case supports the identification of cap myopathy as a congenital myopathy with significant overlapping features with nemaline myopathies and further elucidates the phenotype of this disease. |
doi_str_mv | 10.1016/j.pediatrneurol.2014.04.002 |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1561969690</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0887899414002082</els_id><sourcerecordid>1561969690</sourcerecordid><originalsourceid>FETCH-LOGICAL-c471t-8b0bc6a194b9e6e70e43a6e6147db6eb4e58ac29405fc4f1094e9e803b3b23373</originalsourceid><addsrcrecordid>eNqNkm-L1DAQxoMo3nr6FaTgG990naRJkygIspx_YFXwFF-GNJ31stdtapIq--1N3VPQV0cGMiS_mYHnGUKeUFhToO2z_XrC3tscR5xjGNYMKF9DCWB3yIoq2dSCCrhLVqCUrJXW_Iw8SGkPAEIzfp-cMQFSi1auiN2E8RuOPtuhen8Mk81Xx-qrz1fVxk711l9jdZnj7PIcMVV27KsPeLCDH7H6FPr0vGCppDiFmH9_b33GaBe8vP7w-PMhubezQ8JHN_c5-fL64vPmbb39-Obd5tW2dlzSXKsOOtdaqnmnsUUJyBvbYku57LsWO45CWcc0B7FzfEdBc9SooOmajjWNbM7J01PfKYbvM6ZsDj45HAY7YpiToaKlui0HboMCZVIoVdAXJ9TFkFLEnZmiP9h4NBTMYofZm3_sMIsdBkoAK9WPbwbN3QH7v7V_9C_AxQnAokxRK5rkPI6udIzosumDv-Wgl__1ccUj7-xwjUdM-zDHsYhvqEnMgLlcNmNZDMpLNSjW_ALEPLhe</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1560127588</pqid></control><display><type>article</type><title>Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><creator>Piteau, Shalea J., MD, MSc ; Rossiter, John P., MB, BCh, PhD ; Smith, R. Garth, MBBS ; MacKenzie, Jennifer J., MD</creator><creatorcontrib>Piteau, Shalea J., MD, MSc ; Rossiter, John P., MB, BCh, PhD ; Smith, R. Garth, MBBS ; MacKenzie, Jennifer J., MD</creatorcontrib><description>Abstract Background Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. Cap structures consist of disarranged thin filaments with enlarged Z discs. The clinical presentation and natural history of cap myopathy is variable and overlaps with other congenital myopathies. Methods We describe a 10-year-old boy with cap myopathy and contrast him with 20 other individuals reported in the literature. Results Our patient presented at birth with hypotonia and weakness and subsequently developed respiratory failure in infancy. He is ambulatory but has increasing fatigue and requires a wheelchair by midafternoon. His muscle biopsy at 3 months revealed a nemaline myopathy and secondary fiber-type disproportion with type 1 hypotrophy and predominance. A repeat muscle biopsy at age 6 years revealed numerous peripherally located cap-like structures containing nemaline rods and exhibited a spectrum of Z-disk and myofibrillar abnormalities. Molecular genetic testing was performed for NEB , TPM2 , TPM3 , ACTA1 , TNNT1 , SEPN1 , SMN1 , DMPK , FSHMD1A , and mtDNA . A known pathogenic mutation, c.1152+1G>A, and a previously unreported variant, c.1782+4_1782+5delAG, were detected in NEB. Conclusion Our patient has a more severe phenotype than most reported patients and is the first patient with cap myopathy to have a mutation in NEB . Our case supports the identification of cap myopathy as a congenital myopathy with significant overlapping features with nemaline myopathies and further elucidates the phenotype of this disease.</description><identifier>ISSN: 0887-8994</identifier><identifier>EISSN: 1873-5150</identifier><identifier>DOI: 10.1016/j.pediatrneurol.2014.04.002</identifier><identifier>PMID: 25079567</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>cap myopathy ; case report ; Child ; Humans ; literature review ; Male ; Muscle Proteins - genetics ; Myopathies, Nemaline - genetics ; Myopathies, Nemaline - pathology ; Myopathies, Nemaline - physiopathology ; Myopathies, Structural, Congenital - genetics ; Myopathies, Structural, Congenital - pathology ; Myopathies, Structural, Congenital - physiopathology ; NEB ; nemaline rods ; Neurology ; Pediatrics</subject><ispartof>Pediatric neurology, 2014-08, Vol.51 (2), p.192-197</ispartof><rights>Elsevier Inc.</rights><rights>2014 Elsevier Inc.</rights><rights>Copyright © 2014 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c471t-8b0bc6a194b9e6e70e43a6e6147db6eb4e58ac29405fc4f1094e9e803b3b23373</citedby><cites>FETCH-LOGICAL-c471t-8b0bc6a194b9e6e70e43a6e6147db6eb4e58ac29405fc4f1094e9e803b3b23373</cites><orcidid>0000-0002-2269-9049 ; 0000-0002-3374-8619</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.pediatrneurol.2014.04.002$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25079567$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Piteau, Shalea J., MD, MSc</creatorcontrib><creatorcontrib>Rossiter, John P., MB, BCh, PhD</creatorcontrib><creatorcontrib>Smith, R. Garth, MBBS</creatorcontrib><creatorcontrib>MacKenzie, Jennifer J., MD</creatorcontrib><title>Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review</title><title>Pediatric neurology</title><addtitle>Pediatr Neurol</addtitle><description>Abstract Background Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. Cap structures consist of disarranged thin filaments with enlarged Z discs. The clinical presentation and natural history of cap myopathy is variable and overlaps with other congenital myopathies. Methods We describe a 10-year-old boy with cap myopathy and contrast him with 20 other individuals reported in the literature. Results Our patient presented at birth with hypotonia and weakness and subsequently developed respiratory failure in infancy. He is ambulatory but has increasing fatigue and requires a wheelchair by midafternoon. His muscle biopsy at 3 months revealed a nemaline myopathy and secondary fiber-type disproportion with type 1 hypotrophy and predominance. A repeat muscle biopsy at age 6 years revealed numerous peripherally located cap-like structures containing nemaline rods and exhibited a spectrum of Z-disk and myofibrillar abnormalities. Molecular genetic testing was performed for NEB , TPM2 , TPM3 , ACTA1 , TNNT1 , SEPN1 , SMN1 , DMPK , FSHMD1A , and mtDNA . A known pathogenic mutation, c.1152+1G>A, and a previously unreported variant, c.1782+4_1782+5delAG, were detected in NEB. Conclusion Our patient has a more severe phenotype than most reported patients and is the first patient with cap myopathy to have a mutation in NEB . Our case supports the identification of cap myopathy as a congenital myopathy with significant overlapping features with nemaline myopathies and further elucidates the phenotype of this disease.</description><subject>cap myopathy</subject><subject>case report</subject><subject>Child</subject><subject>Humans</subject><subject>literature review</subject><subject>Male</subject><subject>Muscle Proteins - genetics</subject><subject>Myopathies, Nemaline - genetics</subject><subject>Myopathies, Nemaline - pathology</subject><subject>Myopathies, Nemaline - physiopathology</subject><subject>Myopathies, Structural, Congenital - genetics</subject><subject>Myopathies, Structural, Congenital - pathology</subject><subject>Myopathies, Structural, Congenital - physiopathology</subject><subject>NEB</subject><subject>nemaline rods</subject><subject>Neurology</subject><subject>Pediatrics</subject><issn>0887-8994</issn><issn>1873-5150</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkm-L1DAQxoMo3nr6FaTgG990naRJkygIspx_YFXwFF-GNJ31stdtapIq--1N3VPQV0cGMiS_mYHnGUKeUFhToO2z_XrC3tscR5xjGNYMKF9DCWB3yIoq2dSCCrhLVqCUrJXW_Iw8SGkPAEIzfp-cMQFSi1auiN2E8RuOPtuhen8Mk81Xx-qrz1fVxk711l9jdZnj7PIcMVV27KsPeLCDH7H6FPr0vGCppDiFmH9_b33GaBe8vP7w-PMhubezQ8JHN_c5-fL64vPmbb39-Obd5tW2dlzSXKsOOtdaqnmnsUUJyBvbYku57LsWO45CWcc0B7FzfEdBc9SooOmajjWNbM7J01PfKYbvM6ZsDj45HAY7YpiToaKlui0HboMCZVIoVdAXJ9TFkFLEnZmiP9h4NBTMYofZm3_sMIsdBkoAK9WPbwbN3QH7v7V_9C_AxQnAokxRK5rkPI6udIzosumDv-Wgl__1ccUj7-xwjUdM-zDHsYhvqEnMgLlcNmNZDMpLNSjW_ALEPLhe</recordid><startdate>20140801</startdate><enddate>20140801</enddate><creator>Piteau, Shalea J., MD, MSc</creator><creator>Rossiter, John P., MB, BCh, PhD</creator><creator>Smith, R. Garth, MBBS</creator><creator>MacKenzie, Jennifer J., MD</creator><general>Elsevier 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>7TK</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-2269-9049</orcidid><orcidid>https://orcid.org/0000-0002-3374-8619</orcidid></search><sort><creationdate>20140801</creationdate><title>Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review</title><author>Piteau, Shalea J., MD, MSc ; Rossiter, John P., MB, BCh, PhD ; Smith, R. Garth, MBBS ; MacKenzie, Jennifer J., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c471t-8b0bc6a194b9e6e70e43a6e6147db6eb4e58ac29405fc4f1094e9e803b3b23373</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>cap myopathy</topic><topic>case report</topic><topic>Child</topic><topic>Humans</topic><topic>literature review</topic><topic>Male</topic><topic>Muscle Proteins - genetics</topic><topic>Myopathies, Nemaline - genetics</topic><topic>Myopathies, Nemaline - pathology</topic><topic>Myopathies, Nemaline - physiopathology</topic><topic>Myopathies, Structural, Congenital - genetics</topic><topic>Myopathies, Structural, Congenital - pathology</topic><topic>Myopathies, Structural, Congenital - physiopathology</topic><topic>NEB</topic><topic>nemaline rods</topic><topic>Neurology</topic><topic>Pediatrics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Piteau, Shalea J., MD, MSc</creatorcontrib><creatorcontrib>Rossiter, John P., MB, BCh, PhD</creatorcontrib><creatorcontrib>Smith, R. Garth, MBBS</creatorcontrib><creatorcontrib>MacKenzie, Jennifer J., MD</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Piteau, Shalea J., MD, MSc</au><au>Rossiter, John P., MB, BCh, PhD</au><au>Smith, R. Garth, MBBS</au><au>MacKenzie, Jennifer J., MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review</atitle><jtitle>Pediatric neurology</jtitle><addtitle>Pediatr Neurol</addtitle><date>2014-08-01</date><risdate>2014</risdate><volume>51</volume><issue>2</issue><spage>192</spage><epage>197</epage><pages>192-197</pages><issn>0887-8994</issn><eissn>1873-5150</eissn><abstract>Abstract Background Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. Cap structures consist of disarranged thin filaments with enlarged Z discs. The clinical presentation and natural history of cap myopathy is variable and overlaps with other congenital myopathies. Methods We describe a 10-year-old boy with cap myopathy and contrast him with 20 other individuals reported in the literature. Results Our patient presented at birth with hypotonia and weakness and subsequently developed respiratory failure in infancy. He is ambulatory but has increasing fatigue and requires a wheelchair by midafternoon. His muscle biopsy at 3 months revealed a nemaline myopathy and secondary fiber-type disproportion with type 1 hypotrophy and predominance. A repeat muscle biopsy at age 6 years revealed numerous peripherally located cap-like structures containing nemaline rods and exhibited a spectrum of Z-disk and myofibrillar abnormalities. Molecular genetic testing was performed for NEB , TPM2 , TPM3 , ACTA1 , TNNT1 , SEPN1 , SMN1 , DMPK , FSHMD1A , and mtDNA . A known pathogenic mutation, c.1152+1G>A, and a previously unreported variant, c.1782+4_1782+5delAG, were detected in NEB. Conclusion Our patient has a more severe phenotype than most reported patients and is the first patient with cap myopathy to have a mutation in NEB . Our case supports the identification of cap myopathy as a congenital myopathy with significant overlapping features with nemaline myopathies and further elucidates the phenotype of this disease.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>25079567</pmid><doi>10.1016/j.pediatrneurol.2014.04.002</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-2269-9049</orcidid><orcidid>https://orcid.org/0000-0002-3374-8619</orcidid></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0887-8994 |
ispartof | Pediatric neurology, 2014-08, Vol.51 (2), p.192-197 |
issn | 0887-8994 1873-5150 |
language | eng |
recordid | cdi_proquest_miscellaneous_1561969690 |
source | MEDLINE; Access via ScienceDirect (Elsevier) |
subjects | cap myopathy case report Child Humans literature review Male Muscle Proteins - genetics Myopathies, Nemaline - genetics Myopathies, Nemaline - pathology Myopathies, Nemaline - physiopathology Myopathies, Structural, Congenital - genetics Myopathies, Structural, Congenital - pathology Myopathies, Structural, Congenital - physiopathology NEB nemaline rods Neurology Pediatrics |
title | Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-24T02%3A46%3A19IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Congenital%20Myopathy%20With%20Cap-Like%20Structures%20and%20Nemaline%20Rods:%20Case%20Report%20and%20Literature%20Review&rft.jtitle=Pediatric%20neurology&rft.au=Piteau,%20Shalea%20J.,%20MD,%20MSc&rft.date=2014-08-01&rft.volume=51&rft.issue=2&rft.spage=192&rft.epage=197&rft.pages=192-197&rft.issn=0887-8994&rft.eissn=1873-5150&rft_id=info:doi/10.1016/j.pediatrneurol.2014.04.002&rft_dat=%3Cproquest_cross%3E1561969690%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1560127588&rft_id=info:pmid/25079567&rft_els_id=S0887899414002082&rfr_iscdi=true |