Images in Clinical Rheumatology
Skeletal Deformities in Mucolipidosis III
Alteraciones óseas en la mucolipidosis III
Lucía Pantoja Zarza
, Carolina Diez Morrondo
Corresponding author
Unidad Reumatología, Hospital El Bierzo, Ponferrada, León, Spain
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Intraspongy lumbar hernias are displayed on MR (*).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Mucolypidosis (ML) are a group of metabolic diseases with autosomal recessive inheritance belonging to the group of lysosomes storage diseases. ML has classically been classified into 4 types (I–IV), but the ICD-10 considers the type IA a glucoproteinosis and ML IVA a gangliosidosis, so ML strictly would be type II and III. In those conditions, the alteration is in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, reduced in ML II and absent or altered in MP IIIA and IIIC<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> respectively. We present the case of a male affected with MP III or pseudo-Hurler polydystrophia, a rare disease with characteristic bone radiographic abnormalities.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Clinical Case</span><p id="par0010" class="elsevierStylePara elsevierViewall">The patient is a 47-year-old male, with healthy parents, non consanguineous, with a 42-year-old sister with height stunting and spinal surgery (unspecified), a 40-year-old brother with arthroplasty of both hips and a sister, 37, healthy. At 3 years of age, he presented difficulty bending his fingers, so he was referred for study to the University Hospital of La Paz, where he was diagnosed with ML type III and followed up to 14 years. At this age, he had lost two school years, finishing only primary education. He underwent a bilateral hip arthroplasty (right 2008, left 2011). No cardiac symptoms. No referred mechanical low back pain in the past 2 years, yielding to common analgesics, which he takes on demand. On physical examination: height 154<span class="elsevierStyleHsp" style=""></span>cm, weight 57.2<span class="elsevierStyleHsp" style=""></span>kg. Coarse facial features, claw hands (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>), limited in maximum flexion and extension of the fingers, without skin thickening. Asymmetry of lumbar folds with elevation of the left hemipelvis. No tenderness of lumbar spinous processes, exploring the sensitivity and mobility is normal and root stretching maneuvers are negative.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Discussion</span><p id="par0015" class="elsevierStylePara elsevierViewall">ML III occurs approximately between 3 and 5 years of age, with skeletal and facial abnormalities, short stature, normal intelligence or mild mental retardation, corneal opacity and scoliosis, unlike other forms of ML that have visceral involvement and a gloomy vital prognosis in childhood.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3</span></a> In ML III, evolution is slow, and patients can reach up to the fifth decade of life.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Bone alterations in children may be confused with juvenile idiopathic arthritis or scleroderma, primarily by involvement of the hands.<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5,6</span></a> The characteristic radiologic findings of the hands are small and irregular carpal bones and relatively wide proximal phalanges<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). In the lumbar spine, vertebral dysplasia with irregular delineation of the vertebral bodies<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> is confirmed on MRI (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). In the pelvis, progressive hip dysplasia, with a flattened acetabulum and femoral head destruction with secondary coxarthrosis is seen<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Genetic counseling and symptomatic treatment are available as therapeutic tools. In some cases of ML, pamidronate has been used intravenously in order to reduce<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,7</span></a> osteodystrophy.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Ethical Responsibilities</span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Protection of people and animals</span><p id="par0025" class="elsevierStylePara elsevierViewall">The authors declare that experiments were not performed on humans or animals.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Data confidentiality</span><p id="par0030" class="elsevierStylePara elsevierViewall">The authors declare that they have followed the protocols of their workplace regarding the publication of data from patients, and all patients included in the study have received sufficient information and gave written informed consent to participate in the study.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Right to privacy and informed consent</span><p id="par0035" class="elsevierStylePara elsevierViewall">The authors have obtained informed consent from patients and/or subjects referred to in the article. This document is in the possession of the corresponding author.</p></span></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of Interest</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors have no disclosures to make.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:6 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinical Case" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 3 => array:3 [ "identificador" => "sec0020" "titulo" => "Ethical Responsibilities" "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0025" "titulo" => "Protection of people and animals" ] 1 => array:2 [ "identificador" => "sec0030" "titulo" => "Data confidentiality" ] 2 => array:2 [ "identificador" => "sec0035" "titulo" => "Right to privacy and informed consent" ] ] ] 4 => array:2 [ "identificador" => "sec0040" "titulo" => "Conflict of Interest" ] 5 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Pantoja Zarza L, Diez Morrondo C. Alteraciones óseas en la mucolipidosis III. Reumatol Clin. 2014;10:340–341.</p>" ] ] "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1288 "Ancho" => 990 "Tamanyo" => 159131 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Claw Hand: impossible flexion and maximum extension, without objetive skin thickening or joint involvement. Hand X ray: small and irregular carpus bones (arrow) and wide proximal phalanges (bounded line). The attitude of the claw fingers produces an image of pseudoimpingement in the PIP and DIP joints (thin arrows).</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 943 "Ancho" => 990 "Tamanyo" => 117580 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Dorsolumbar X-ray and MRI-T2: irregularity of the vertebral end plates (arrows). Intraspongy lumbar hernias are displayed on MR (*).</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 709 "Ancho" => 990 "Tamanyo" => 99732 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">X-ray of the pelvis and hip dysplasia with impingement of the coxofemoral spaces, flattened acetabulum (arrows), femoral head deformity (^ ^) and secondary osteophytes (*). Sclerosis of the symphysis pubis (thin arrow).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical pseudo-Hurler polydistrophy are caused by mutations in the GlcNAc-Phosphotransferase α/β-subunits precursor gene" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "M. Kudo" 1 => "M.S. Brem" 2 => "W.M. Canfield" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1086/500849" "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "2006" "volumen" => "78" "paginaInicial" => "451" "paginaFinal" => "463" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16465621" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Bilateral hip replacement in three patients with lysosomal storage disease: mulopolysaccharidosis type <span class="elsevierStyleSmallCaps">iv</span> and Mucolipidosis type <span class="elsevierStyleSmallCaps">iii</span>" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "J.R. Pryce Lewis" 1 => "P.H. Gibson" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Bone Joint Surg (Br)" "fecha" => "2010" "volumen" => "92" "paginaInicial" => "289" "paginaFinal" => "292" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Oral findings in patients with mucolipidosis type III" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "W.C. Cavalcante" 1 => "L.C.S. Santos" 2 => "J.N. Santos" 3 => "S.J.A. Vasconcellos" 4 => "R.A. Azevedo" 5 => "J.N. Santos" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Braz Dent J" "fecha" => "2012" "volumen" => "23" "paginaInicial" => "461" "paginaFinal" => "466" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/23207867" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:1 [ "referenciaCompleta" => "Mucolipidosis [Internet]. Bethesda, Maryland: NIH. Instituto Nacional de Trastornos Neurológicos y Accidentes Cerebrovasculares. c2007–2013. <a id="intr0010" class="elsevierStyleInterRef" href="http://espanol.ninds.nih.gov/trastornos/mucolipidoses.htm">http://espanol.ninds.nih.gov/trastornos/mucolipidoses.htm</a> [accessed 30.6.13]." ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Skeletal deformities in mucolipidosis III" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "M.P. Somford" 1 => "F.M. Vanhoenacker" 2 => "W.F. Draijer" 3 => "N.P. Kort" 4 => "B.J. Thomassen" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "JBR-BTR" "fecha" => "2009" "volumen" => "92" "paginaInicial" => "168" "paginaFinal" => "169" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19670582" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mucolipidosis type <span class="elsevierStyleSmallCaps">iii</span> in and adolescente presenting with atypical facial features and skeletal deformities" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "P.O. Simsek-Kiper" 1 => "R. Topaloglu" 2 => "Y. Sahin" 3 => "G.E. Utine" 4 => "K. Boduroglu" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Genet Couns" "fecha" => "2013" "volumen" => "24" "paginaInicial" => "7" "paginaFinal" => "12" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/23610860" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The natural history and osteodystrophy of mucolipidosis types <span class="elsevierStyleSmallCaps">ii</span> and <span class="elsevierStyleSmallCaps">iii</span>" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "G. David-Vizcarra" 1 => "J. Briody" 2 => "J. Ault" 3 => "M. Fietz" 4 => "J. Fletcher" 5 => "R. Savarirayan" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/j.1440-1754.2010.01715.x" "Revista" => array:6 [ "tituloSerie" => "J Paediatr Child Health" "fecha" => "2010" "volumen" => "46" "paginaInicial" => "316" "paginaFinal" => "322" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/20367762" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/21735743/0000001000000005/v1_201409070108/S2173574314001105/v1_201409070108/en/main.assets" "Apartado" => array:4 [ "identificador" => "5795" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Images in Clinical Rheumatology" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21735743/0000001000000005/v1_201409070108/S2173574314001105/v1_201409070108/en/main.pdf?idApp=UINPBA00004M&text.app=https://reumatologiaclinica.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173574314001105?idApp=UINPBA00004M" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 3 | 8 | 11 |
| 2024 October | 43 | 42 | 85 |
| 2024 September | 58 | 28 | 86 |
| 2024 August | 72 | 27 | 99 |
| 2024 July | 70 | 43 | 113 |
| 2024 June | 71 | 27 | 98 |
| 2024 May | 62 | 47 | 109 |
| 2024 April | 49 | 25 | 74 |
| 2024 March | 62 | 30 | 92 |
| 2024 February | 38 | 32 | 70 |
| 2024 January | 53 | 28 | 81 |
| 2023 December | 42 | 28 | 70 |
| 2023 November | 44 | 29 | 73 |
| 2023 October | 60 | 32 | 92 |
| 2023 September | 44 | 53 | 97 |
| 2023 August | 41 | 19 | 60 |
| 2023 July | 51 | 22 | 73 |
| 2023 June | 54 | 23 | 77 |
| 2023 May | 65 | 28 | 93 |
| 2023 April | 38 | 10 | 48 |
| 2023 March | 42 | 27 | 69 |
| 2023 February | 54 | 30 | 84 |
| 2023 January | 34 | 18 | 52 |
| 2022 December | 55 | 31 | 86 |
| 2022 November | 58 | 29 | 87 |
| 2022 October | 89 | 41 | 130 |
| 2022 September | 69 | 29 | 98 |
| 2022 August | 62 | 43 | 105 |
| 2022 July | 82 | 41 | 123 |
| 2022 June | 90 | 37 | 127 |
| 2022 May | 65 | 45 | 110 |
| 2022 April | 61 | 36 | 97 |
| 2022 March | 64 | 43 | 107 |
| 2022 February | 62 | 34 | 96 |
| 2022 January | 46 | 47 | 93 |
| 2021 December | 41 | 42 | 83 |
| 2021 November | 35 | 46 | 81 |
| 2021 October | 50 | 56 | 106 |
| 2021 September | 31 | 33 | 64 |
| 2021 August | 36 | 35 | 71 |
| 2021 July | 35 | 27 | 62 |
| 2021 June | 41 | 37 | 78 |
| 2021 May | 37 | 33 | 70 |
| 2021 April | 68 | 82 | 150 |
| 2021 March | 59 | 27 | 86 |
| 2021 February | 19 | 28 | 47 |
| 2021 January | 18 | 17 | 35 |
| 2020 December | 31 | 17 | 48 |
| 2020 November | 42 | 19 | 61 |
| 2020 October | 66 | 12 | 78 |
| 2020 September | 33 | 21 | 54 |
| 2020 August | 19 | 17 | 36 |
| 2020 July | 13 | 15 | 28 |
| 2020 June | 34 | 18 | 52 |
| 2020 May | 25 | 16 | 41 |
| 2020 April | 33 | 12 | 45 |
| 2020 March | 20 | 14 | 34 |
| 2020 February | 1 | 0 | 1 |
| 2018 May | 8 | 0 | 8 |
| 2018 April | 87 | 8 | 95 |
| 2018 March | 98 | 3 | 101 |
| 2018 February | 55 | 5 | 60 |
| 2018 January | 70 | 7 | 77 |
| 2017 December | 37 | 4 | 41 |
| 2017 November | 48 | 9 | 57 |
| 2017 October | 34 | 8 | 42 |
| 2017 September | 27 | 3 | 30 |
| 2017 August | 37 | 11 | 48 |
| 2017 July | 48 | 7 | 55 |
| 2017 June | 66 | 4 | 70 |
| 2017 May | 65 | 18 | 83 |
| 2017 April | 54 | 10 | 64 |
| 2017 March | 35 | 4 | 39 |
| 2017 February | 41 | 8 | 49 |
| 2017 January | 40 | 6 | 46 |
| 2016 December | 72 | 10 | 82 |
| 2016 November | 51 | 7 | 58 |
| 2016 October | 80 | 17 | 97 |
| 2016 September | 73 | 10 | 83 |
| 2016 August | 65 | 8 | 73 |
| 2016 July | 22 | 5 | 27 |
| 2016 April | 1 | 0 | 1 |
| 2015 December | 2 | 0 | 2 |
| 2015 September | 1 | 0 | 1 |
| 2015 August | 1 | 0 | 1 |
| 2015 July | 34 | 8 | 42 |
| 2015 June | 50 | 13 | 63 |
| 2015 May | 72 | 14 | 86 |
| 2015 April | 92 | 13 | 105 |
| 2015 March | 89 | 11 | 100 |
| 2015 February | 68 | 6 | 74 |
| 2015 January | 90 | 12 | 102 |
| 2014 December | 68 | 8 | 76 |
| 2014 November | 43 | 12 | 55 |
| 2014 October | 84 | 22 | 106 |
| 2014 September | 22 | 15 | 37 |
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