Tuberous Sclerosis Complex: Diagnostic Role of Magnetic Resonance Imaging
Identifieur interne : 000187 ( Pmc/Corpus ); précédent : 000186; suivant : 000188Tuberous Sclerosis Complex: Diagnostic Role of Magnetic Resonance Imaging
Auteurs : Virendra N. Sehgal ; Navjeeven Singh ; Sonal Sharma ; Jolly Rohatgi ; Rakesh Oberai ; Kingshuk ChatterjeeSource :
- Indian Journal of Dermatology [ 0019-5154 ] ; 2015.
Abstract
Tuberous sclerosis complex (TSC) is a well-known clinical entity, characterized by facial angio-fibroma, shagreen patch, and hypo-melanotic, and confetti-like skin lesions. An exquisite fresh case is being narrated, emphasizing its microscopic pathology. The role of magnetic resonance imaging of the brain, in particular, is highlighted to define the large variety of neurological abrasions for determining its future progression.
Url:
DOI: 10.4103/0019-5154.160520
PubMed: 26288435
PubMed Central: 4533565
Links to Exploration step
PMC:4533565Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Tuberous Sclerosis Complex: Diagnostic Role of Magnetic Resonance Imaging</title><author><name sortKey="Sehgal, Virendra N" sort="Sehgal, Virendra N" uniqKey="Sehgal V" first="Virendra N" last="Sehgal">Virendra N. Sehgal</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Singh, Navjeeven" sort="Singh, Navjeeven" uniqKey="Singh N" first="Navjeeven" last="Singh">Navjeeven Singh</name><affiliation><nlm:aff id="aff2"><italic>Department of Pathology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Sahadra, Delhi, India</italic></nlm:aff></affiliation></author><author><name sortKey="Sharma, Sonal" sort="Sharma, Sonal" uniqKey="Sharma S" first="Sonal" last="Sharma">Sonal Sharma</name><affiliation><nlm:aff id="aff2"><italic>Department of Pathology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Sahadra, Delhi, India</italic></nlm:aff></affiliation></author><author><name sortKey="Rohatgi, Jolly" sort="Rohatgi, Jolly" uniqKey="Rohatgi J" first="Jolly" last="Rohatgi">Jolly Rohatgi</name><affiliation><nlm:aff id="aff3"><italic>Department of Ophthalmology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Sahadra, Delhi, India</italic></nlm:aff></affiliation></author><author><name sortKey="Oberai, Rakesh" sort="Oberai, Rakesh" uniqKey="Oberai R" first="Rakesh" last="Oberai">Rakesh Oberai</name><affiliation><nlm:aff id="aff4"><italic>Department of Radiology, Sri Balaji Action Medical Institute Paschim Vihar, New Delhi, India</italic></nlm:aff></affiliation></author><author><name sortKey="Chatterjee, Kingshuk" sort="Chatterjee, Kingshuk" uniqKey="Chatterjee K" first="Kingshuk" last="Chatterjee">Kingshuk Chatterjee</name><affiliation><nlm:aff id="aff5"><italic>Department of Dermatology, Bankura Sammilani Medical Collage, Bankura, West Bengal, India</italic></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26288435</idno><idno type="pmc">4533565</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4533565</idno><idno type="RBID">PMC:4533565</idno><idno type="doi">10.4103/0019-5154.160520</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000187</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000187</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Tuberous Sclerosis Complex: Diagnostic Role of Magnetic Resonance Imaging</title><author><name sortKey="Sehgal, Virendra N" sort="Sehgal, Virendra N" uniqKey="Sehgal V" first="Virendra N" last="Sehgal">Virendra N. Sehgal</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Singh, Navjeeven" sort="Singh, Navjeeven" uniqKey="Singh N" first="Navjeeven" last="Singh">Navjeeven Singh</name><affiliation><nlm:aff id="aff2"><italic>Department of Pathology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Sahadra, Delhi, India</italic></nlm:aff></affiliation></author><author><name sortKey="Sharma, Sonal" sort="Sharma, Sonal" uniqKey="Sharma S" first="Sonal" last="Sharma">Sonal Sharma</name><affiliation><nlm:aff id="aff2"><italic>Department of Pathology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Sahadra, Delhi, India</italic></nlm:aff></affiliation></author><author><name sortKey="Rohatgi, Jolly" sort="Rohatgi, Jolly" uniqKey="Rohatgi J" first="Jolly" last="Rohatgi">Jolly Rohatgi</name><affiliation><nlm:aff id="aff3"><italic>Department of Ophthalmology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Sahadra, Delhi, India</italic></nlm:aff></affiliation></author><author><name sortKey="Oberai, Rakesh" sort="Oberai, Rakesh" uniqKey="Oberai R" first="Rakesh" last="Oberai">Rakesh Oberai</name><affiliation><nlm:aff id="aff4"><italic>Department of Radiology, Sri Balaji Action Medical Institute Paschim Vihar, New Delhi, India</italic></nlm:aff></affiliation></author><author><name sortKey="Chatterjee, Kingshuk" sort="Chatterjee, Kingshuk" uniqKey="Chatterjee K" first="Kingshuk" last="Chatterjee">Kingshuk Chatterjee</name><affiliation><nlm:aff id="aff5"><italic>Department of Dermatology, Bankura Sammilani Medical Collage, Bankura, West Bengal, India</italic></nlm:aff></affiliation></author></analytic><series><title level="j">Indian Journal of Dermatology</title><idno type="ISSN">0019-5154</idno><idno type="eISSN">1998-3611</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Tuberous sclerosis complex (TSC) is a well-known clinical entity, characterized by facial angio-fibroma, shagreen patch, and hypo-melanotic, and confetti-like skin lesions. An exquisite fresh case is being narrated, emphasizing its microscopic pathology. The role of magnetic resonance imaging of the brain, in particular, is highlighted to define the large variety of neurological abrasions for determining its future progression.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Kacerovska, D" uniqKey="Kacerovska D">D Kacerovska</name></author><author><name sortKey="Kerl, K" uniqKey="Kerl K">K Kerl</name></author><author><name sortKey="Michal, M" uniqKey="Michal M">M Michal</name></author><author><name sortKey="Filipova, H" uniqKey="Filipova H">H Filipova</name></author><author><name sortKey="Vrtel, R" uniqKey="Vrtel R">R Vrtel</name></author><author><name sortKey="Vanecek, T" uniqKey="Vanecek T">T Vanecek</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schwartz, Ra" uniqKey="Schwartz R">RA Schwartz</name></author><author><name sortKey="Fernandez, G" uniqKey="Fernandez G">G Fernández</name></author><author><name sortKey="Kotuska, K" uniqKey="Kotuska K">K Kotuska</name></author><author><name sortKey="J Wiak, S" uniqKey="J Wiak S">S Jówiak</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Von Recklinghausen, F" uniqKey="Von Recklinghausen F">F von Recklinghausen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bourneville, Dm" uniqKey="Bourneville D">DM Bourneville</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sherlock, Eb" uniqKey="Sherlock E">EB Sherlock</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sehgal, Vn" uniqKey="Sehgal V">VN Sehgal</name></author><author><name sortKey="Sehgal, N" uniqKey="Sehgal N">N Sehgal</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hake, S" uniqKey="Hake S">S Hake</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Maria, Bl" uniqKey="Maria B">BL Maria</name></author><author><name sortKey="Deidrick, Km" uniqKey="Deidrick K">KM Deidrick</name></author><author><name sortKey="Roach, Es" uniqKey="Roach E">ES Roach</name></author><author><name sortKey="Gutmann, Dh" uniqKey="Gutmann D">DH Gutmann</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sehgal, Vn" uniqKey="Sehgal V">VN Sehgal</name></author><author><name sortKey="Sharma, S" uniqKey="Sharma S">S Sharma</name></author><author><name sortKey="Verma, P" uniqKey="Verma P">P Verma</name></author><author><name sortKey="Srivastava, G" uniqKey="Srivastava G">G Srivastava</name></author><author><name sortKey="Gupta, M" uniqKey="Gupta M">M Gupta</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sehgal, Vn" uniqKey="Sehgal V">VN Sehgal</name></author><author><name sortKey="Srivastava, G" uniqKey="Srivastava G">G Srivastava</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Torrelo, A" uniqKey="Torrelo A">A Torrelo</name></author><author><name sortKey="Hadj Rabia, S" uniqKey="Hadj Rabia S">S Hadj-Rabia</name></author><author><name sortKey="Colmenero, I" uniqKey="Colmenero I">I Colmenero</name></author><author><name sortKey="Piston, R" uniqKey="Piston R">R Piston</name></author><author><name sortKey="Sybert, Vp" uniqKey="Sybert V">VP Sybert</name></author><author><name sortKey="Hilari Carbonell, H" uniqKey="Hilari Carbonell H">H Hilari-Carbonell</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Roach, Es" uniqKey="Roach E">ES Roach</name></author><author><name sortKey="Williams, Dp" uniqKey="Williams D">DP Williams</name></author><author><name sortKey="Laster, Dw" uniqKey="Laster D">DW Laster</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Radhakrishnan, R" uniqKey="Radhakrishnan R">R Radhakrishnan</name></author><author><name sortKey="Verma, S" uniqKey="Verma S">S Verma</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Umeoka, S" uniqKey="Umeoka S">S Umeoka</name></author><author><name sortKey="Koyama, T" uniqKey="Koyama T">T Koyama</name></author><author><name sortKey="Miki, Y" uniqKey="Miki Y">Y Miki</name></author><author><name sortKey="Akai, M" uniqKey="Akai M">M Akai</name></author><author><name sortKey="Tsutsui, K" uniqKey="Tsutsui K">K Tsutsui</name></author><author><name sortKey="Togashi, K" uniqKey="Togashi K">K Togashi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Peters, Jm" uniqKey="Peters J">JM Peters</name></author><author><name sortKey="Taquet, M" uniqKey="Taquet M">M Taquet</name></author><author><name sortKey="Prohl, Ak" uniqKey="Prohl A">AK Prohl</name></author><author><name sortKey="Scherrer, B" uniqKey="Scherrer B">B Scherrer</name></author><author><name sortKey="Van Eeghen, Am" uniqKey="Van Eeghen A">AM van Eeghen</name></author><author><name sortKey="Prabhu, Sp" uniqKey="Prabhu S">SP Prabhu</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Indian J Dermatol</journal-id><journal-id journal-id-type="iso-abbrev">Indian J Dermatol</journal-id><journal-id journal-id-type="publisher-id">IJD</journal-id><journal-title-group><journal-title>Indian Journal of Dermatology</journal-title></journal-title-group><issn pub-type="ppub">0019-5154</issn><issn pub-type="epub">1998-3611</issn><publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name><publisher-loc>India</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26288435</article-id><article-id pub-id-type="pmc">4533565</article-id><article-id pub-id-type="publisher-id">IJD-60-421a</article-id><article-id pub-id-type="doi">10.4103/0019-5154.160520</article-id><article-categories><subj-group subj-group-type="heading"><subject>E-IJD Case Report</subject></subj-group></article-categories><title-group><article-title>Tuberous Sclerosis Complex: Diagnostic Role of Magnetic Resonance Imaging</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Sehgal</surname><given-names>Virendra N</given-names></name><xref ref-type="aff" rid="aff1"></xref><xref ref-type="corresp" rid="cor1"></xref></contrib><contrib contrib-type="author"><name><surname>Singh</surname><given-names>Navjeeven</given-names></name><xref ref-type="aff" rid="aff2">1</xref></contrib><contrib contrib-type="author"><name><surname>Sharma</surname><given-names>Sonal</given-names></name><xref ref-type="aff" rid="aff2">1</xref></contrib><contrib contrib-type="author"><name><surname>Rohatgi</surname><given-names>Jolly</given-names></name><xref ref-type="aff" rid="aff3">2</xref></contrib><contrib contrib-type="author"><name><surname>Oberai</surname><given-names>Rakesh</given-names></name><xref ref-type="aff" rid="aff4">3</xref></contrib><contrib contrib-type="author"><name><surname>Chatterjee</surname><given-names>Kingshuk</given-names></name><xref ref-type="aff" rid="aff5">4</xref></contrib></contrib-group><aff id="aff1"><italic>From the Dermato Venereology (Skin/VD) Center, Sehgal Nursing Home, Panchwati, Delhi, India</italic></aff><aff id="aff2"><label>1</label><italic>Department of Pathology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Sahadra, Delhi, India</italic></aff><aff id="aff3"><label>2</label><italic>Department of Ophthalmology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Sahadra, Delhi, India</italic></aff><aff id="aff4"><label>3</label><italic>Department of Radiology, Sri Balaji Action Medical Institute Paschim Vihar, New Delhi, India</italic></aff><aff id="aff5"><label>4</label><italic>Department of Dermatology, Bankura Sammilani Medical Collage, Bankura, West Bengal, India</italic></aff><author-notes><corresp id="cor1"><italic><bold>Address for correspondence:</bold> Dr. Virendra N Sehgal, Dermato Venerology (Skin/VD) Center, Sehgal Nursing Home, A/6 Panchwati, Delhi - 110 033, India. E-mail: <email xlink:href="drsehgal@ndf.vsnl.net.in">drsehgal@ndf.vsnl.net.in</email></italic></corresp></author-notes><pub-date pub-type="ppub"><season>Jul-Aug</season><year>2015</year></pub-date><volume>60</volume><issue>4</issue><fpage seq="a">421</fpage><lpage>421</lpage><history><date date-type="received"><month>9</month><year>2014</year></date><date date-type="accepted"><month>12</month><year>2014</year></date></history><permissions><copyright-statement>Copyright: © Indian Journal of Dermatology</copyright-statement><copyright-year>2015</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Tuberous sclerosis complex (TSC) is a well-known clinical entity, characterized by facial angio-fibroma, shagreen patch, and hypo-melanotic, and confetti-like skin lesions. An exquisite fresh case is being narrated, emphasizing its microscopic pathology. The role of magnetic resonance imaging of the brain, in particular, is highlighted to define the large variety of neurological abrasions for determining its future progression.</p></abstract><kwd-group><kwd><italic>Diagnostic role of magnetic resonance imaging</italic></kwd><kwd><italic>tuberous sclerosis complex</italic></kwd><kwd><italic>histopathology</italic></kwd></kwd-group></article-meta></front><body><boxed-text position="float"><p><bold>What was known?</bold></p><p>Tuberous sclerosis complex is a rare entity, the cutaneous manifestations of which are extraordinary and have been well illustrated along with its neurological undertones.</p></boxed-text><sec sec-type="intro" id="sec1-1"><title>Introduction</title><p>Tuberous sclerosis is a genetic disorder, where cellular differentiation and proliferation result in hamartoma formation in the skin, brain, eye, kidney, and heart.[<xref rid="ref1" ref-type="bibr">1</xref><xref rid="ref2" ref-type="bibr">2</xref>] The credit of its initial description, in the year 1862, goes to Von Recklinghausen,[<xref rid="ref3" ref-type="bibr">3</xref>] while Désiré-Magloire Bourneville[<xref rid="ref4" ref-type="bibr">4</xref>] coined the term <italic>sclerose tubereuse</italic>; the current name is its derivative. The clinical triad of epilepsy, low intelligence, and adenoma sebaceum, the <italic>epiloia</italic>, was invented by Sherlock.[<xref rid="ref5" ref-type="bibr">5</xref>] The term tuberous sclerosis complex (TSC)[<xref rid="ref1" ref-type="bibr">1</xref>] is now widely acclaimed, emphasizing the variegated nature of its attribute.</p></sec><sec id="sec1-2"><title>Case Report</title><p>An 11-year-old girl of class 6<sup>th</sup> standard, of average IQ, presented with insidiously evolving reddish-brown, small hard bumps occupying the mid-face since early childhood. She also had couple of small white spots over the trunk. There was neither history of neurological (seizures), visual deficit nor burning on exposure to sunlight. She was born by normal delivery from non-consanguineous parents. Her younger brother is normal. No history indicative of the disease could be elicited either in maternal or fraternal family members. Skin surface examination of the face was marked by the presence of reddish-brown papules of 2-4 mm size (millet seed). These papules were numerous, occupied the nose, nasolabial folds and cheeks and were bilateral and symmetrical [<xref ref-type="fig" rid="F1">Figure 1a</xref>]. In addition, a plaque of 3 to 4 cm size was recognized in the lumbo-sacral region. It had uneven surface, resembling an “orange peel,” the shagreen patch [<xref ref-type="fig" rid="F1">Figure 1b</xref>]. Hypomelanotic, ivory-white macule (s) of 5 to 10 mm size was located. The macules were 2 in number and were well defined with irregular margins [<xref ref-type="fig" rid="F1">Figure 1c</xref>]. The mucous membrane of the oral cavity and nails were normal. Neurological examination too was normal. Indirect ophthalmoscopic and slit-lamp examinations of the eye were normal. Complete hemogram, including total and differential leukocyte count, and cardiac- and kidney functions tests were normal. Ultrasonography of the abdomen was normal too. Kidneys and liver, in particular, did not reveal any focal lesion. The radiograph of the chest and electrocardiogram (ECG) were normal.</p><fig id="F1" position="float"><label>Figure 1</label><caption><p>(a) Angio-fibroma on the face. (b) Shagreen patch on the lumbo-sacral region. (c) Hypomelanotic, confetti-like macules</p></caption><graphic xlink:href="IJD-60-421a-g001"></graphic></fig><sec id="sec2-1"><title></title><sec id="sec3-1"><title>Histopathology</title><p>Hematoxylin-eosin (H and E)-stained sections prepared from the face, revealed a normal looking epidermis, small pilo-sebaceous units, and an evidence of increased dermal collagen [<xref ref-type="fig" rid="F2">Figure 2a</xref>]. At higher magnification, “onion-peel”- like concentric bands of collagen surrounding abortive hair follicles [<xref ref-type="fig" rid="F2">Figure 2b</xref>] were seen. Concentric bands of fibrosis were also seen around some of the eccrine ducts [<xref ref-type="fig" rid="F2">Figure 2c</xref>], appearing to constrict their lumina. Likewise, the small sebaceous glands in the dermis were surrounded by dense collagen bands.</p><fig id="F2" position="float"><label>Figure 2</label><caption><p>(a) Section, exhibiting a normal epidermis and small pilosebaceoous units (H and E, ×40). (b) “Onion-peel”-like concentric bands of collagen surrounding a hair follicle (H and E, ×200). (c) An eccrine duct surrounded by concentric fibrosis (H and E, ×400)</p></caption><graphic xlink:href="IJD-60-421a-g002"></graphic></fig><p>The sections from the plaque on the back showed a dome-shaped elevation of the epidermis by dense fibrous tissue, a paucity of dermal appendages, and vasculature. Concentric bands of collagen, surrounding small, congested blood vessels were also seen in the dermis.</p></sec><sec id="sec3-2"><title>Magnetic resonance imaging</title><p>MRI of the brain performed on a 1.5 TMR (Signa HDxt, GE Medical Systems, Milwaukee, Wisconsin, USA), using turbo spin-echo (TSE) T1-weighted, T2-weighted and fluid-attenuated inversion recovery (FLAIR) sequences in axial planes, showed sub-ependymal nodules (SENs) along the wall of both the lateral ventricles, appearing hyper-intense on T1-and T2-weighted MRI [Figure <xref ref-type="fig" rid="F3">3a</xref> and <xref ref-type="fig" rid="F3">b</xref>], small focal lesions in the left frontal lobe cortex [Figure <xref ref-type="fig" rid="F4">4a</xref> and <xref ref-type="fig" rid="F4">b</xref>] and in left cerebellum [Figure <xref ref-type="fig" rid="F5">5a</xref> and <xref ref-type="fig" rid="F5">b</xref>] appearing hyper-intense on T2-weighted, and FLAIR and iso-intense to hypo-intense on T1-weighted images [Figure <xref ref-type="fig" rid="F5">5a</xref> and <xref ref-type="fig" rid="F5">b</xref>]. In addition, band like hyper-intense bilateral lesions were seen in deep white matter on FLAIR images. An extra-axial cystic lesion was also seen in the left temporal region, appearing hypo-intense on FLAIR and hyper-intense on T2-weighted images. Both the orbits were unremarkable.</p><fig id="F3" position="float"><label>Figure 3</label><caption><p>(a) Axial T2-weighted image demonstrating hyper-intense subependymal nodules (white arrow) along bilateral lateral ventricles. (b) On axial T1-weighted image the nodules appeared hyperintense with central hypo-intensity (white arrow)</p></caption><graphic xlink:href="IJD-60-421a-g003"></graphic></fig><fig id="F4" position="float"><label>Figure 4</label><caption><p>(a and b) Axial FLAIR image demonstrating hyper-intense linear radial band in bilateral deep white matter (white arrow) and focal hyper-intense lesion in the left parietal cortex (black arrow)</p></caption><graphic xlink:href="IJD-60-421a-g004"></graphic></fig><fig id="F5" position="float"><label>Figure 5</label><caption><p>(a) Axial T2-weighted image showing a focal hyper-intense lesion in the left cerebellum (white arrow) and an extra-axial hyper-intense lesion in the left temporal region (thick arrow). On axial FLAIR images (b) the left cerebellar lesion appeared hyper-intense (white arrow) and the extra-axial left temporal lesion appeared hypo-intense (thick arrow)</p></caption><graphic xlink:href="IJD-60-421a-g005"></graphic></fig><p>The ultrasound of abdomen including kidneys and liver was normal.</p></sec></sec></sec><sec sec-type="discussion" id="sec1-3"><title>Discussion</title><p>It is a rare entity and has sparingly been reported.[<xref rid="ref6" ref-type="bibr">6</xref><xref rid="ref7" ref-type="bibr">7</xref>] Nonetheless, it continues to be in reckoning, ever since its inception, because of its overwhelming clinical ramifications. Accordingly, a consensus conference was sponsored by the Tuberous Sclerosis Alliance and the National Institute of Health, the deliberations of which took cognizance of its wide ranging clinical manifestations to evolve criteria for its diagnosis [<xref ref-type="table" rid="T1">Table 1</xref>].[<xref rid="ref8" ref-type="bibr">8</xref>]</p><table-wrap id="T1" position="float"><label>Table 1</label><caption><p>Tuberous sclerosis complex: Criteria for diagnosis</p></caption><graphic xlink:href="IJD-60-421a-g006"></graphic></table-wrap><p>The present case had facial angio-fibroma, shagreen patch, and hypo-melanotic, confetti-like[<xref rid="ref9" ref-type="bibr">9</xref><xref rid="ref10" ref-type="bibr">10</xref>] skin lesions, a few of its salient cutaneous manifestations, adequate to consider the diagnosis of TSC, conforming to the major features (<italic>vide supra</italic>).</p><p>The exquisite exposition of microscopic pathology[<xref rid="ref1" ref-type="bibr">1</xref><xref rid="ref11" ref-type="bibr">11</xref>] was fascinating and is required to be taken cognizance of as an essential adjunct for confirming the clinical diagnosis. Virtually, it should form a part component of already enlisted major and/or minor features of TSC. It is, therefore, recommended to undertake a biopsy of accessible cutaneous lesions before proceeding to perform MRI. The narrative account of TSC was accomplished in the present case by performing MRI of the brain to identify the presence of lesions involving the cerebral cortex. Multiple high-signal MRI lesions are characteristic of TSC[<xref rid="ref12" ref-type="bibr">12</xref>] corresponding to the hamartomas and gliotic area seen pathologically. Furthermore, MRI may be useful in predicting the eventual clinical severity of younger children with newly diagnosed TSC.</p><p>Cortical tubers, SENs and white matter lesions are commonly encountered in TSC. Its less common manifestations include cerebellar atrophy, dys-genesis of corpus callosum, Chiari malformation, arachnoid cyst, and infarctions due to occlusive vascular disorders. MRI is the most sensitive modality for their detection.[<xref rid="ref13" ref-type="bibr">13</xref><xref rid="ref14" ref-type="bibr">14</xref>] Cortical tubers, SENs, white matter lesions and left temporal arachnoid cysts were seen in the present case. The cortical tubers had increased signal intensity on T2- and decreased signal intensity on T1-weighted sequence. On MRI, SENs are iso-intense/hyper-intense on T2-weighted images and hyper-intense on T1-weighted images, and may also demonstrate central low T2 signal with surrounding hyper-intense rim. SENs typically measure less than 1 cm, but may grow over time, giving rise to subependymal giant cell astrocytomas (SEGAs), which are commonly located at the foramen of Monro and can cause acute obstructive hydrocephalus. They are of heterogeneous appearance on MRI, contain calcification and show intense inhomogeneous enhancement. Superficial white matter abnormalities and radial white matter bands, which are lines of arrested neuronal migration, appear as radiating bright lines on T2-weighted and FLAIR images. White matter cystic lesions may also occur. Hence, MRI plays an important role in the correct diagnosis of TSC, especially in asymptomatic patients to determine the presence and extent of organ involvement. Follow-up MRI must be done for evolution of lesions and early detection of associated complications. Thus, it may play a crucial role in its management. Moreover, it is worthwhile to highlight the limitations of conventional MRI to match micro-structural changes, for which diffusion tensor imaging (DTI) and related noninvasive techniques[<xref rid="ref15" ref-type="bibr">15</xref>] are being practiced to define the well-known pathological changes. In addition, DTI has a putative role in identifying potential disease biomarkers, as DTI abnormalities of the white matter are associated with neurocognitive morbidity including autism. If indeed DTI changes parallel phenol-typical changes related to the investigational treatment of epilepsy, cognition and behavior with mTOR inhibitors, it will facilitate future clinical trials.</p></sec><sec sec-type="conclusions" id="sec1-4"><title>Conclusions</title><p>Although tuberous sclerosis complex is a well-known genetic disorder, its reporting is sporadic. Slowly evolving angio-fibroma affecting the mid face, shagreen patch, and hypo-melanotic, confetti-like lesions should arouse suspicion. Nevertheless, its diagnosis needs to be supplemented by histopathology. Magnetic resonance imaging is imperative to define its neurological undertones, in addition to slit-lamp examination of the eye.</p><p>Noninvasive MRI measures of microstructural may be handy.</p><boxed-text position="float"><p><bold>What is new?</bold></p><p>The imperatives of magnetic resonance imaging (MRI) for evaluating the variety of associated neurological abnormalities are focused attention for diagnosis of tuberous sclerosis complex, and to predict the future course of the disease.</p></boxed-text></sec></body><back><fn-group><fn fn-type="supported-by"><p><bold>Source of support:</bold> Nil</p></fn><fn fn-type="conflict"><p><bold>Conflict of Interest:</bold> Nil.</p></fn></fn-group><ref-list><ref id="ref1"><label>1</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Kacerovska</surname><given-names>D</given-names></name><name><surname>Kerl</surname><given-names>K</given-names></name><name><surname>Michal</surname><given-names>M</given-names></name><name><surname>Filipova</surname><given-names>H</given-names></name><name><surname>Vrtel</surname><given-names>R</given-names></name><name><surname>Vanecek</surname><given-names>T</given-names></name><etal></etal></person-group><article-title>Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis</article-title><source>J Am Acad Dermatol</source><year>2012</year><volume>67</volume><fpage>1319</fpage><lpage>26</lpage><pub-id pub-id-type="pmid">22552000</pub-id></element-citation></ref><ref id="ref2"><label>2</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Schwartz</surname><given-names>RA</given-names></name><name><surname>Fernández</surname><given-names>G</given-names></name><name><surname>Kotuska</surname><given-names>K</given-names></name><name><surname>Jówiak</surname><given-names>S</given-names></name></person-group><article-title>Tuberous sclerosis complex: Advances in diagnosis, genetics, and management</article-title><source>J Am Acad Dermatol</source><year>2007</year><volume>57</volume><fpage>189</fpage><lpage>202</lpage><pub-id pub-id-type="pmid">17637444</pub-id></element-citation></ref><ref id="ref3"><label>3</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>von Recklinghausen</surname><given-names>F</given-names></name></person-group><article-title>Ein Herz von einem Neugeborene welches mehrere theils nach aussen, theils nach den Hohlen promimirende Tumoren (Myomen) trug</article-title><source>Monatschr Geburtsheilkd</source><year>1862</year><volume>20</volume><fpage>1</fpage><lpage>2</lpage></element-citation></ref><ref id="ref4"><label>4</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Bourneville</surname><given-names>DM</given-names></name></person-group><article-title>Contribution a l’étude de l’idiotie: Sclèrose tubéreuse des circonvolutions cérébrale: Idiote et épilepsie hemiplegique</article-title><source>Arch Neurol</source><year>1880</year><volume>1</volume><fpage>81</fpage><lpage>91</lpage></element-citation></ref><ref id="ref5"><label>5</label><element-citation publication-type="book"><person-group person-group-type="author"><name><surname>Sherlock</surname><given-names>EB</given-names></name></person-group><article-title>The Feeble-Minded: A Guide to Study and Practice</article-title><year>1911</year><publisher-loc>London</publisher-loc><publisher-name>MacMillan</publisher-name><fpage>235</fpage><lpage>47</lpage></element-citation></ref><ref id="ref6"><label>6</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Sehgal</surname><given-names>VN</given-names></name><name><surname>Sehgal</surname><given-names>N</given-names></name></person-group><article-title>Cutaneous manifestations of tuberous sclerosis</article-title><source>Indian J Dermatol Venereol Leprol</source><year>1969</year><volume>35</volume><fpage>198</fpage><lpage>9</lpage></element-citation></ref><ref id="ref7"><label>7</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hake</surname><given-names>S</given-names></name></person-group><article-title>Cutaneous manifestations of tuberous sclerosis</article-title><source>Ochsner J</source><year>2010</year><volume>10</volume><fpage>200</fpage><lpage>4</lpage><pub-id pub-id-type="pmid">21603378</pub-id></element-citation></ref><ref id="ref8"><label>8</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Maria</surname><given-names>BL</given-names></name><name><surname>Deidrick</surname><given-names>KM</given-names></name><name><surname>Roach</surname><given-names>ES</given-names></name><name><surname>Gutmann</surname><given-names>DH</given-names></name></person-group><article-title>Tuberous sclerosis complex: Pathogenesis, diagnosis, strategies, therapies, and future research directions</article-title><source>J Child Neurol</source><year>2004</year><volume>19</volume><fpage>632</fpage><lpage>42</lpage><pub-id pub-id-type="pmid">15563008</pub-id></element-citation></ref><ref id="ref9"><label>9</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Sehgal</surname><given-names>VN</given-names></name><name><surname>Sharma</surname><given-names>S</given-names></name><name><surname>Verma</surname><given-names>P</given-names></name><name><surname>Srivastava</surname><given-names>G</given-names></name><name><surname>Gupta</surname><given-names>M</given-names></name></person-group><article-title>Idiopathic Confetti-like leukoderma with unusual presentation</article-title><source>Am J Dermatopathol</source><year>2012</year><volume>34</volume><fpage>117</fpage><lpage>21</lpage><pub-id pub-id-type="pmid">22197857</pub-id></element-citation></ref><ref id="ref10"><label>10</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Sehgal</surname><given-names>VN</given-names></name><name><surname>Srivastava</surname><given-names>G</given-names></name></person-group><article-title>Hereditary hypo/de-pigmented dermatoses: An overview</article-title><source>Int J Dermatol</source><year>2008</year><volume>47</volume><fpage>1041</fpage><lpage>50</lpage><pub-id pub-id-type="pmid">18986352</pub-id></element-citation></ref><ref id="ref11"><label>11</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Torrelo</surname><given-names>A</given-names></name><name><surname>Hadj-Rabia</surname><given-names>S</given-names></name><name><surname>Colmenero</surname><given-names>I</given-names></name><name><surname>Piston</surname><given-names>R</given-names></name><name><surname>Sybert</surname><given-names>VP</given-names></name><name><surname>Hilari-Carbonell</surname><given-names>H</given-names></name><etal></etal></person-group><article-title>Folliculocystic and collagen hamartoma of tuberous sclerosis complex</article-title><source>J Am Acad Dermatol</source><year>2012</year><volume>66</volume><fpage>617</fpage><lpage>21</lpage><pub-id pub-id-type="pmid">21839539</pub-id></element-citation></ref><ref id="ref12"><label>12</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Roach</surname><given-names>ES</given-names></name><name><surname>Williams</surname><given-names>DP</given-names></name><name><surname>Laster</surname><given-names>DW</given-names></name></person-group><article-title>Magnetic resonance imaging in tuberous sclerosis</article-title><source>Arch Neurol</source><year>1987</year><volume>44</volume><fpage>301</fpage><lpage>3</lpage><pub-id pub-id-type="pmid">3827681</pub-id></element-citation></ref><ref id="ref13"><label>13</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Radhakrishnan</surname><given-names>R</given-names></name><name><surname>Verma</surname><given-names>S</given-names></name></person-group><article-title>Clinically relevant imaging in tuberous sclerosis</article-title><source>J Clin Imaging Sci</source><year>2011</year><volume>1</volume><fpage>39</fpage><pub-id pub-id-type="pmid">21966635</pub-id></element-citation></ref><ref id="ref14"><label>14</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Umeoka</surname><given-names>S</given-names></name><name><surname>Koyama</surname><given-names>T</given-names></name><name><surname>Miki</surname><given-names>Y</given-names></name><name><surname>Akai</surname><given-names>M</given-names></name><name><surname>Tsutsui</surname><given-names>K</given-names></name><name><surname>Togashi</surname><given-names>K</given-names></name></person-group><article-title>Pictorial review of tuberous sclerosis in various organs</article-title><source>Radiographics</source><year>2008</year><volume>28</volume><fpage>e32</fpage><pub-id pub-id-type="pmid">18772274</pub-id></element-citation></ref><ref id="ref15"><label>15</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Peters</surname><given-names>JM</given-names></name><name><surname>Taquet</surname><given-names>M</given-names></name><name><surname>Prohl</surname><given-names>AK</given-names></name><name><surname>Scherrer</surname><given-names>B</given-names></name><name><surname>van Eeghen</surname><given-names>AM</given-names></name><name><surname>Prabhu</surname><given-names>SP</given-names></name><etal></etal></person-group><article-title>Diffusion tensor imaging and related techniques in tuberous sclerosis complex: Review and future directions</article-title><source>Future Neurol</source><year>2013</year><volume>8</volume><fpage>583</fpage><lpage>97</lpage><pub-id pub-id-type="pmid">24489482</pub-id></element-citation></ref></ref-list></back></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000187 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000187 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé= PMC:4533565
|texte= Tuberous Sclerosis Complex: Diagnostic Role of Magnetic Resonance Imaging
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:26288435" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |