Scientific letter
Congenital fiber-type disproportion myopathy: A case study
B.J. de Haro-Hernándeza,
, C. Macouzet-Sánchezb, I. Rodríguez-Balderramaa, M.E. de la O-Cavazosb
Corresponding author
brendaj_1607@hotmail.com
Corresponding author at: Servicio de Neonatología del Hospital Universitario “Dr. José Eleuterio González” de la UANL Monterrey, Ave. Francisco I Madero y Ave. Gonzalitos, s/n, Col. Mitras Centro, código postal 64460, Monterrey, N.L., Mexico. Tel.: +52 811 5167827.
Corresponding author at: Servicio de Neonatología del Hospital Universitario “Dr. José Eleuterio González” de la UANL Monterrey, Ave. Francisco I Madero y Ave. Gonzalitos, s/n, Col. Mitras Centro, código postal 64460, Monterrey, N.L., Mexico. Tel.: +52 811 5167827.
Read
6617
Timeswas read the article
1001
Total PDF
5616
Total HTML
Share statistics
array:24 [ "pii" => "S1665579614000027" "issn" => "16655796" "doi" => "10.1016/j.rmu.2014.09.001" "estado" => "S300" "fechaPublicacion" => "2015-01-01" "aid" => "1" "copyright" => "Universidad Autónoma de Nuevo León" "copyrightAnyo" => "2014" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "Medicina Universitaria. 2015;17:42-5" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 1966 "formatos" => array:3 [ "EPUB" => 47 "HTML" => 1383 "PDF" => 536 ] ] "itemSiguiente" => array:19 [ "pii" => "S1665579614000039" "issn" => "16655796" "doi" => "10.1016/j.rmu.2014.07.001" "estado" => "S300" "fechaPublicacion" => "2015-01-01" "aid" => "2" "copyright" => "Universidad Autónoma de Nuevo León" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "Medicina Universitaria. 2015;17:46-8" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 2789 "formatos" => array:3 [ "EPUB" => 42 "HTML" => 2312 "PDF" => 435 ] ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific letter</span>" "titulo" => "Long QT syndrome in a neonate" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "46" "paginaFinal" => "48" ] ] "contieneResumen" => array:1 [ "en" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0020" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1308 "Ancho" => 1601 "Tamanyo" => 83646 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Calculation of the corrected QT interval.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "I. Rodríguez-Balderrama, I.B. Morales-Rodríguez, V. Rodríguez-Martínez, R. Rodríguez-Bonito" "autores" => array:4 [ 0 => array:2 [ "nombre" => "I." "apellidos" => "Rodríguez-Balderrama" ] 1 => array:2 [ "nombre" => "I.B." "apellidos" => "Morales-Rodríguez" ] 2 => array:2 [ "nombre" => "V." "apellidos" => "Rodríguez-Martínez" ] 3 => array:2 [ "nombre" => "R." "apellidos" => "Rodríguez-Bonito" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1665579614000039?idApp=UINPBA00004N" "url" => "/16655796/0000001700000066/v1_201508210029/S1665579614000039/v1_201508210029/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S1665579615000034" "issn" => "16655796" "doi" => "10.1016/j.rmu.2015.01.002" "estado" => "S300" "fechaPublicacion" => "2015-01-01" "aid" => "8" "copyright" => "Universidad Autónoma de Nuevo León" "documento" => "article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "fla" "cita" => "Medicina Universitaria. 2015;17:38-41" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 1226 "formatos" => array:3 [ "EPUB" => 42 "HTML" => 654 "PDF" => 530 ] ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>" "titulo" => "Laparoscopic splenectomy experience in the University Hospital “Dr. José Eleuterio González”" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "38" "paginaFinal" => "41" ] ] "contieneResumen" => array:1 [ "en" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "R.G. Cueto-Ramos, G.E. Muñoz-Maldonado, M.A. Hernández-Guedea, J.R. Fernández-Treviño, Q.G. Limas-Rodríguez" "autores" => array:5 [ 0 => array:2 [ "nombre" => "R.G." "apellidos" => "Cueto-Ramos" ] 1 => array:2 [ "nombre" => "G.E." "apellidos" => "Muñoz-Maldonado" ] 2 => array:2 [ "nombre" => "M.A." "apellidos" => "Hernández-Guedea" ] 3 => array:2 [ "nombre" => "J.R." "apellidos" => "Fernández-Treviño" ] 4 => array:2 [ "nombre" => "Q.G." "apellidos" => "Limas-Rodríguez" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1665579615000034?idApp=UINPBA00004N" "url" => "/16655796/0000001700000066/v1_201508210029/S1665579615000034/v1_201508210029/en/main.assets" ] "en" => array:18 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific letter</span>" "titulo" => "Congenital fiber-type disproportion myopathy: A case study" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "42" "paginaFinal" => "45" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "B.J. de Haro-Hernández, C. Macouzet-Sánchez, I. Rodríguez-Balderrama, M.E. de la O-Cavazos" "autores" => array:4 [ 0 => array:4 [ "nombre" => "B.J." "apellidos" => "de Haro-Hernández" "email" => array:1 [ 0 => "brendaj_1607@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "C." "apellidos" => "Macouzet-Sánchez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "I." "apellidos" => "Rodríguez-Balderrama" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "M.E." "apellidos" => "de la O-Cavazos" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Neonatology Services of the “Dr. José Eleuterio González” University Hospital of the Universidad Autónoma de Nuevo León, Mexico" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Pediatrics Department of the “Dr. José Eleuterio González” University Hospital of the Universidad Autónoma de Nuevo León, Mexico" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author at: Servicio de Neonatología del Hospital Universitario “Dr. José Eleuterio González” de la UANL Monterrey, Ave. Francisco I Madero y Ave. Gonzalitos, s/n, Col. Mitras Centro, código postal 64460, Monterrey, N.L., Mexico. Tel.: +52 811 5167827." ] ] ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0035" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1777 "Ancho" => 2754 "Tamanyo" => 616021 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Type I fibers are dark and small in all the cuts except the ATPasa cross-section, where type I fibers are small, but clear. Type I fibers are atrophic.</p> <p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Type II fibers are clear and hypertrophic, with the exception of the ATPasa cross-section, where they are hypertrophic but dark.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Within congenital myopathies classifications, there are myopathies with alterations in muscle maturation and/or development. One of these myopathies is congenital fiber-type disproportion, which is characterized by generalized muscle weakness at birth or during the baby's first year, mainly in the extremities.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">It was first described by Brooke and Engel<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,3</span></a> in a study of the morphology of children's biopsies. It is a rare entity, which occurs in 1 in every 50,000 live births.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> All body musculature is affected. However, the muscles in the lower extremities are usually more altered than the upper extremities; thus the electromyography reports a myopathic process, although in others there is a neurogenic component.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">11,13</span></a> Some cases with a longer evolution time show mild sclerosis<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> and there have been reports of important respiratory alterations, severe brain damage and heart diseases.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,7,8</span></a> In a few cases an association of skeletal and articular alterations has been observed.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">9,10</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Clinical case</span><p id="par0015" class="elsevierStylePara elsevierViewall">The mother of the baby boy was a 25-year-old woman, previously healthy, secondary school completed, without drug addictions, living together with her partner. The father was a 30-year-old man, healthy, without any relevant history. The newborn had two other brothers, a 4-year-old and a 7-year-old, both healthy.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The product of a fourth pregnancy, the mother had had two C-sections performed and suffered a miscarriage when she was 9 weeks pregnant. She completed a normal pregnancy, with folic acid, iron intake, as well as supplementary multivitamins for the first month of pregnancy, prenatal control with 8 visits to the University Hospital without presenting abnormalities.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Born by elective C-section due to the history of two previous C-sections at 38.4 weeks of gestation, with an Apgar score of 2/6 because it was found to be acrocyanotic, flaccid, no respiratory effort, and with a heart rate of 80<span class="elsevierStyleHsp" style=""></span>bpm. He is given 2 positive pressure ventilation cycles, improving hear rate, but not respiratory effort, and was therefore intubated and left under mechanical ventilation and moved to the Neonatal Intensive Care Unit.</p><p id="par0030" class="elsevierStylePara elsevierViewall">During physical examination: Weight: 3070<span class="elsevierStyleHsp" style=""></span>g, located in the 50th percentile, size: 50<span class="elsevierStyleHsp" style=""></span>cm, in the 50th percentile, cephalic perimeter: (CP) 36<span class="elsevierStyleHsp" style=""></span>cm, in the 50th percentile, myopathic facies with an elongated face, symmetrical eyes and a bilateral ptosis, presenting red reflex, permeable nostrils, proper ear implantation, an ogival palate and a tented upper lip. Neck: retrognathial, short, round. Thorax: no respiratory effort, without deformities, normal lung fields, holosystolic murmur grade 3–4 detected. The abdomen was soft, palpable without pain, and free of visceromegaly, an umbilical cord, 2 arteries and a vein. Male genitalia: Tanner 1, right cryptorchidie, with the right testicle in the inguinal canal and the left testicle in the scrotal bag. The extremities: generalized hypotonia, no response to painful stimulus, absence of muscle tone, deep tendon reflexes absent, rigid right clubfoot.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Upon admission, gasometry and asphyctic profile on admission and at 24<span class="elsevierStyleHsp" style=""></span>h (due to perinatal asphyxia suspicion) were normal and a transfontanellar ultrasound (TFUS) and brain MRI were performed and were also normal (<a class="elsevierStyleCrossRef" href="#fig0025">Fig. 1</a>). No infection-compatible alterations were found, as well as the metabolic panel (with electrolytes) and the metabolic screening were also normal. An electrocardiogram was performed due to the presence of ICT in 0.62 (<a class="elsevierStyleCrossRef" href="#fig0030">Fig. 2</a>) and due to the holosystolic murmur grade II/VI detecting an interventricular communication of 2<span class="elsevierStyleHsp" style=""></span>mm, mild tricuspid insufficiency, a persistence of a patent ductus arteriosus of 1.4<span class="elsevierStyleHsp" style=""></span>mm and an oval foramen without hemodynamic repercussions.</p><elsevierMultimedia ident="fig0025"></elsevierMultimedia><elsevierMultimedia ident="fig0030"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">We referred the patient to the Genetics Department who evaluated the patient's genealogical tree, without finding any history of neuromuscular diseases in any of the first-degree relatives or extended family, thus classifying this as an isolated case. Furthermore, they requested a genetic mutations study; however, the family did not have the economic resources to have it done.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Due to the newborn's hypotonic diagnosis, a muscle biopsy, lab tests and normal imagining of the right quadriceps were performed, confirming the congenital fiber-type disproportion diagnosis.</p><p id="par0050" class="elsevierStylePara elsevierViewall">The sample was divided into two parts; the first part was cut by freezing it and processed following standard and special techniques for its morphological, histochemical and enzymatic analyses, applying H&E stains, a modified Gomori trichrome and ATPase reactions at pH 4.3, 4.6 and 9.4, Nicotinamide dinucleotide and adenine-tetrazolium reductase (NADH-tr). In addition, we conducted a morphological study using light microscopy and high-resolution optics microscopy. A morphometric analysis was conducted on type-I and type-II fibers. Findings showed the following: it was determined that, regarding type-I fibers, 20% of them were within the normal interval (10–15.4<span class="elsevierStyleHsp" style=""></span>μm) with an average of 6.9<span class="elsevierStyleHsp" style=""></span>μm (normal of 12.7<span class="elsevierStyleHsp" style=""></span>μm) and a variable coefficient of 449 (normal up to 250) due to the 80% of atrophic fibers, with a very elevated atrophy coefficient of 1,350 (normal up to 150). For type-II fibers, the average was 15.4<span class="elsevierStyleHsp" style=""></span>μm (normal 10.9<span class="elsevierStyleHsp" style=""></span>μm) with just 38% of fibers within the normal interval (7.7–14.1<span class="elsevierStyleHsp" style=""></span>μm), the variable coefficient does not exceed the limit value {241 (normal up to 250)} despite the high percentage of hypertrophic fibers (62%) but the hypertrophy coefficient is very elevated {600 (normal up to 400)} (<a class="elsevierStyleCrossRef" href="#fig0035">Fig. 3</a>).</p><elsevierMultimedia ident="fig0035"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Discussion</span><p id="par0055" class="elsevierStylePara elsevierViewall">Congenital fiber-type disproportion myopathy, as displayed in our patient in this case, is determined by the unevenness in the size of both types of muscle fibers, where type-I fibers are much smaller, and type-II fibers are too large.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a> According to the study by Brooke and Engel of the morphology of biopsies, the entity is based histopathologically in a threshold of 12% of unevenness in fiber sizes to define the group.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Our patient's case is relevant because congenital fiber-type disproportion myopathy is a rare entity, which according to medical literature occurs only in 1:50,000 live births.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,13</span></a> The most common clinical manifestations in 50–75% of cases are moderate to severe hypotonia (floppy babies), general muscle weakness at birth or during the first year, especially in the lower extremities, and absence of deep tendon reflexes, which the patient displayed in our case, normal or slightly increased creatine kinase (CK), normal intelligence, as well as normal electromyography or myopathic pattern.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,6</span></a> Common clinical manifestations, which are present in 10–50% of cases are: myopathic facies with an elongated face, an ogival palate, a tented upper lip and light to severe respiratory problems, all of which were found in our patient, difficulty feeding, ophthalmoplegia, contractures, scoliosis, lordosis and laxity.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">11,12</span></a> The less frequent manifestations, present in less than 10% of cases are: cardiac involvement, cognitive impairment and cryptorchidism, which was present in our clinical case.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,6</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">It is a genetically heterogeneous disease, which in inherited in an autosomal recessive manner, dominant and with isolated cases.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2,9,12</span></a> To date, mutations in six genes have been identified: ACTA1 (6%), MYH7 (unknown), RYR1 (10–20%), SEPN1 (rare), TPM2 (rare) and TPM3 (20–25%).<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">16</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">During the muscular biopsy, we found type I muscular fibers of a smaller caliber (12% smaller) than the type IIs, which were found to be hypertrophic. And in the same way we found the type I or atrophic fibers, we also found a greater number of type II or hypertrophic<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">14,15</span></a> fibers, which were found in the immunohistological report of the muscular biopsy performed in the case of our patient.</p><p id="par0075" class="elsevierStylePara elsevierViewall">The best threshold for the level of disproportion of muscle fibers necessary to make a diagnosis is still under discussion, but there is a general consensus that it should be equal to or greater than 12%. The prenatal diagnosis is made by analyzing DNA extracted from fetal cells with a chorionic villus sampling at 10 or 12 weeks of gestation and an amniocentesis at 15 to 18 weeks of gestation, where the mutation in some of the 3 genes causing the disease can be found.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,13</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">The treatment is multidisciplinary, with physical rehabilitation and treatment of complications such as respiratory difficulties, joint alterations, weakness and swallowing difficulties.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,13</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">The prognosis depends on the degree of hypotonia as well as respiratory and cardiac involvement. Ophthalmoplegia, ptosis, a bulbous or weak face, severe weakness in the extremities and respiratory weakness have been described as factors for a negative prognosis.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,11,13</span></a></p><p id="par0090" class="elsevierStylePara elsevierViewall">The presentation of this clinical case is important, as it deals with an infrequent entity, which represents a diagnostic and therapeutic challenge in our line of work. It is important to get to know the clinical manifestations, how to arrive at a diagnosis, and understand the complications which may arise in these patients, to provide adequate treatment, prevent complications, and offer a better quality of life. Additionally, the presentation of this case opens the doors to more diagnostic possibilities which we should look forward to cope with a newborn with generalized hypotonia.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Conflict of interest</span><p id="par0095" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:7 [ 0 => array:3 [ "identificador" => "xres542816" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec562164" "titulo" => "Keywords" ] 2 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 3 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinical case" ] 4 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 5 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interest" ] 6 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2014-09-24" "fechaAceptado" => "2014-09-24" "PalabrasClave" => array:1 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec562164" "palabras" => array:4 [ 0 => "Congenital fiber type disproportion" 1 => "Congenital myopathy" 2 => "Muscle biopsy" 3 => "México" ] ] ] ] "tieneResumen" => true "resumen" => array:1 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Congenital fiber-type disproportion myopathy causes impaired muscle maturation or development. It is characterized by moderate to severe hypotonia and generalized muscle weakness at birth or during the first year of life, especially in the lower extremities. It is inherited as an autosomal recessive, dominant and X-linked. It is diagnosed by clinical data confirmation, generalized hypotonia and a muscle biopsy in which muscle fibers type I are smaller in caliber, 12% smaller than those of type II and type I fibers are more common than type II. Treatment is multidisciplinary.</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">The following describes the case of a patient who was born in the “Dr. José Eleuterio González” University Hospital in Monterrey, N.L, who presented clinical and muscle biopsy compatible with this myopathy.</p></span>" ] ] "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0025" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 846 "Ancho" => 1000 "Tamanyo" => 77296 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Normal MRI.</p>" ] ] 1 => array:7 [ "identificador" => "fig0030" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 999 "Ancho" => 866 "Tamanyo" => 127466 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Cardiothoracic index at 0.62.</p>" ] ] 2 => array:7 [ "identificador" => "fig0035" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1777 "Ancho" => 2754 "Tamanyo" => 616021 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Type I fibers are dark and small in all the cuts except the ATPasa cross-section, where type I fibers are small, but clear. Type I fibers are atrophic.</p> <p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Type II fibers are clear and hypertrophic, with the exception of the ATPasa cross-section, where they are hypertrophic but dark.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:16 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Update in hereditary childhood neuromuscular diseases" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "H.H. Goebel" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "Semin Pediatr Neurol" "fecha" => "2006" "paginaInicial" => "199" "paginaFinal" => "296" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hereditary neuromuscular disorders in children" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "H.H. Goebel" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Semin Pediatr Neurol" "fecha" => "2002" "volumen" => "9" "paginaInicial" => "79" "paginaFinal" => "170" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Congenital fiber type disproportion: 30 years on" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "N.F. Clarke" 1 => "K.N. North" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Neuropathol Exp Neurol" "fecha" => "2003" "volumen" => "62" "paginaInicial" => "977" "paginaFinal" => "989" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/14575234" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The histographic analysis of human muscle biopsies with regard to fiber types. Children's biopsies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "M.H. Brooke" 1 => "W.K. Engel" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Neurology" "fecha" => "1969" "volumen" => "19" "paginaInicial" => "591" "paginaFinal" => "605" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/5814304" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Muscle biopsy: a modern approach" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "V. Dubowitz" 1 => "M.H. Brooke" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Libro" => array:5 [ "fecha" => "1973" "paginaInicial" => "280" "paginaFinal" => "288" "editorial" => "WB Saunders" "editorialLocalizacion" => "London" ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Congenital fibre type disproportion – A syndrome at the crossroads of the congenital myopathies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "N.F. Clarke" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.nmd.2011.02.015" "Revista" => array:6 [ "tituloSerie" => "Neuromusc Disord" "fecha" => "2011" "volumen" => "21" "paginaInicial" => "252" "paginaFinal" => "253" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/21420627" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Core myopathies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "H. Jungbluth" 1 => "C.A. Sewry" 2 => "F. Muntoni" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.spen.2011.10.005" "Revista" => array:6 [ "tituloSerie" => "Semin Pediatr Neurol" "fecha" => "2011" "volumen" => "18" "paginaInicial" => "239" "paginaFinal" => "249" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22172419" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "B. Moghadaszadeh" 1 => "N. Petit" 2 => "C. Jaillard" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng713" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "2001" "volumen" => "29" "paginaInicial" => "17" "paginaFinal" => "18" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11528383" "web" => "Medline" ] ] ] ] ] ] ] ] 8 => array:3 [ "identificador" => "bib0045" "etiqueta" => "9" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "I. Sato" 1 => "S. Wu" 2 => "M.C. Ibarra" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1212/01.wnl.0000269792.63927.86" "Revista" => array:6 [ "tituloSerie" => "Neurology" "fecha" => "2008" "volumen" => "70" "paginaInicial" => "114" "paginaFinal" => "122" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/17538032" "web" => "Medline" ] ] ] ] ] ] ] ] 9 => array:3 [ "identificador" => "bib0050" "etiqueta" => "10" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Congenital muscle fiber type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "A. Khan" 1 => "H.B. Sarnat" 2 => "R. Spaetgens" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1177/0883073808314895" "Revista" => array:6 [ "tituloSerie" => "J Child Neurol" "fecha" => "2008" "volumen" => "23" "paginaInicial" => "829" "paginaFinal" => "831" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/18658083" "web" => "Medline" ] ] ] ] ] ] ] ] 10 => array:3 [ "identificador" => "bib0055" "etiqueta" => "11" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "C. Imoto" 1 => "I. Nonaka" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Brain Dev" "fecha" => "2001" "volumen" => "23" "paginaInicial" => "298" "paginaFinal" => "302" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11504599" "web" => "Medline" ] ] ] ] ] ] ] ] 11 => array:3 [ "identificador" => "bib0060" "etiqueta" => "12" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Muscle fiber type disproportion with an autosomal dominant inheritance" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "W.K. Kim" 1 => "B.O. Choi" 2 => "H.Y. Cheon" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.3349/ymj.2000.41.2.281" "Revista" => array:6 [ "tituloSerie" => "Yonsei Med J" "fecha" => "2000" "volumen" => "41" "paginaInicial" => "281" "paginaFinal" => "284" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10817032" "web" => "Medline" ] ] ] ] ] ] ] ] 12 => array:3 [ "identificador" => "bib0065" "etiqueta" => "13" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Congenital fiber-type disproportion" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "N.F. Clarke" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.spen.2011.10.008" "Revista" => array:6 [ "tituloSerie" => "Semin Pediatr Neurol" "fecha" => "2011" "volumen" => "18" "paginaInicial" => "264" "paginaFinal" => "271" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22172422" "web" => "Medline" ] ] ] ] ] ] ] ] 13 => array:3 [ "identificador" => "bib0070" "etiqueta" => "14" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "M.W. Lawlor" 1 => "E.T. Dechene" 2 => "E. Roumm" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/humu.21157" "Revista" => array:6 [ "tituloSerie" => "Hum Mutat" "fecha" => "2010" "volumen" => "31" "paginaInicial" => "176" "paginaFinal" => "183" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19953533" "web" => "Medline" ] ] ] ] ] ] ] ] 14 => array:3 [ "identificador" => "bib0075" "etiqueta" => "15" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutations in TPM3 are a common cause of congenital fiber type disproportion" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "N.F. Clarke" 1 => "H. Kolski" 2 => "D.E. Dye" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ana.21308" "Revista" => array:6 [ "tituloSerie" => "Ann Neurol" "fecha" => "2008" "volumen" => "63" "paginaInicial" => "329" "paginaFinal" => "337" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/18300303" "web" => "Medline" ] ] ] ] ] ] ] ] 15 => array:3 [ "identificador" => "bib0080" "etiqueta" => "16" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Congenital fiber-type disproportion" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "D.E. Taylor" 1 => "P.B. Kang" 2 => "A.H. Beggs" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:3 [ "tituloSerie" => "GeneReviews" "fecha" => "2013" "paginaInicial" => "11" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/16655796/0000001700000066/v1_201508210029/S1665579614000027/v1_201508210029/en/main.assets" "Apartado" => array:4 [ "identificador" => "42852" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/16655796/0000001700000066/v1_201508210029/S1665579614000027/v1_201508210029/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1665579614000027?idApp=UINPBA00004N" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 6 | 0 | 6 |
| 2024 October | 68 | 3 | 71 |
| 2024 September | 66 | 8 | 74 |
| 2024 August | 71 | 3 | 74 |
| 2024 July | 74 | 7 | 81 |
| 2024 June | 63 | 4 | 67 |
| 2024 May | 82 | 0 | 82 |
| 2024 April | 61 | 7 | 68 |
| 2024 March | 97 | 11 | 108 |
| 2024 February | 91 | 3 | 94 |
| 2024 January | 115 | 11 | 126 |
| 2023 December | 108 | 8 | 116 |
| 2023 November | 81 | 13 | 94 |
| 2023 October | 121 | 7 | 128 |
| 2023 September | 74 | 10 | 84 |
| 2023 August | 70 | 5 | 75 |
| 2023 July | 87 | 10 | 97 |
| 2023 June | 81 | 6 | 87 |
| 2023 May | 176 | 9 | 185 |
| 2023 April | 94 | 6 | 100 |
| 2023 March | 99 | 10 | 109 |
| 2023 February | 70 | 5 | 75 |
| 2023 January | 80 | 8 | 88 |
| 2022 December | 62 | 10 | 72 |
| 2022 November | 80 | 8 | 88 |
| 2022 October | 91 | 17 | 108 |
| 2022 September | 72 | 9 | 81 |
| 2022 August | 62 | 14 | 76 |
| 2022 July | 77 | 13 | 90 |
| 2022 June | 68 | 8 | 76 |
| 2022 May | 65 | 12 | 77 |
| 2022 April | 56 | 17 | 73 |
| 2022 March | 70 | 19 | 89 |
| 2022 February | 83 | 5 | 88 |
| 2022 January | 122 | 10 | 132 |
| 2021 December | 88 | 7 | 95 |
| 2021 November | 96 | 9 | 105 |
| 2021 October | 96 | 7 | 103 |
| 2021 September | 60 | 13 | 73 |
| 2021 August | 46 | 8 | 54 |
| 2021 July | 40 | 11 | 51 |
| 2021 June | 57 | 9 | 66 |
| 2021 May | 46 | 7 | 53 |
| 2021 April | 136 | 7 | 143 |
| 2021 March | 82 | 8 | 90 |
| 2021 February | 71 | 6 | 77 |
| 2021 January | 82 | 8 | 90 |
| 2020 December | 56 | 14 | 70 |
| 2020 November | 62 | 6 | 68 |
| 2020 October | 47 | 9 | 56 |
| 2020 September | 37 | 7 | 44 |
| 2020 August | 69 | 6 | 75 |
| 2020 July | 35 | 4 | 39 |
| 2020 June | 46 | 4 | 50 |
| 2020 May | 43 | 7 | 50 |
| 2020 April | 52 | 6 | 58 |
| 2020 March | 30 | 6 | 36 |
| 2020 February | 32 | 5 | 37 |
| 2020 January | 23 | 5 | 28 |
| 2019 December | 34 | 7 | 41 |
| 2019 November | 23 | 5 | 28 |
| 2019 October | 53 | 4 | 57 |
| 2019 September | 37 | 4 | 41 |
| 2019 August | 14 | 4 | 18 |
| 2019 July | 38 | 11 | 49 |
| 2019 June | 59 | 24 | 83 |
| 2019 May | 79 | 56 | 135 |
| 2019 April | 78 | 24 | 102 |
| 2019 March | 9 | 5 | 14 |
| 2019 February | 22 | 6 | 28 |
| 2019 January | 7 | 3 | 10 |
| 2018 December | 16 | 6 | 22 |
| 2018 November | 19 | 6 | 25 |
| 2018 October | 24 | 9 | 33 |
| 2018 September | 11 | 11 | 22 |
| 2018 August | 13 | 2 | 15 |
| 2018 July | 15 | 1 | 16 |
| 2018 June | 6 | 2 | 8 |
| 2018 May | 19 | 5 | 24 |
| 2018 April | 13 | 1 | 14 |
| 2018 March | 13 | 3 | 16 |
| 2018 February | 11 | 0 | 11 |
| 2018 January | 16 | 1 | 17 |
| 2017 December | 9 | 0 | 9 |
| 2017 November | 10 | 4 | 14 |
| 2017 October | 15 | 2 | 17 |
| 2017 September | 8 | 6 | 14 |
| 2017 August | 12 | 7 | 19 |
| 2017 July | 11 | 2 | 13 |
| 2017 June | 25 | 20 | 45 |
| 2017 May | 31 | 9 | 40 |
| 2017 April | 15 | 2 | 17 |
| 2017 March | 17 | 77 | 94 |
| 2017 February | 13 | 6 | 19 |
| 2017 January | 20 | 8 | 28 |
| 2016 December | 29 | 4 | 33 |
| 2016 November | 45 | 9 | 54 |
| 2016 October | 58 | 10 | 68 |
| 2016 September | 33 | 8 | 41 |
| 2016 August | 34 | 7 | 41 |
| 2016 July | 29 | 1 | 30 |
| 2016 June | 41 | 9 | 50 |
| 2016 May | 28 | 14 | 42 |
| 2016 April | 38 | 20 | 58 |
| 2016 March | 42 | 19 | 61 |
| 2016 February | 21 | 15 | 36 |
| 2016 January | 24 | 14 | 38 |
| 2015 December | 25 | 12 | 37 |
| 2015 November | 29 | 19 | 48 |
| 2015 October | 38 | 17 | 55 |
| 2015 September | 9 | 3 | 12 |
| 2015 August | 3 | 2 | 5 |
Show all