Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema
Identifieur interne : 002262 ( Pmc/Curation ); précédent : 002261; suivant : 002263Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema
Auteurs : Josef Finsterer [Autriche] ; Claudia Stollberger [Autriche] ; Elisabeth Stubenberger [Autriche] ; Sasan Tschakoschian [Autriche]Source :
- International Journal of General Medicine [ 1178-7074 ] ; 2013.
Abstract
This case report documents the affliction of the lymph vessels as a phenotypic feature of neurofibromatosis-1 (NF-1).
Routine transthoracic echocardiography, computed tomography scan of the thorax, magnetic resonance angiography of the renal arteries, and conventional digital subtraction angiography were applied. Comprehensive NF-1 mutation analysis was carried out by fluorescence in situ hybridization analysis, long-range reverse transcriptase polymerase chain reaction, and multiple-ligation probe assay. All other investigations were performed using routine, well-established techniques.
The subject is a 34-year-old, half-Chinese male; NF-1 was suspected at age 15 years for the first time. His medical history included preterm birth, mild facial dysmorphism, “café au lait” spots, subcutaneous and paravertebral fibromas, multifocal tachycardia, atrial fibrillation, and heart failure in early infancy. Noncalcified bone fibromas in the femur and tibia were detected at age 8 years. Surgical right leg lengthening was carried out at age 11 years. Bilateral renal artery stenosis, stenosis and aneurysm of the superior mesenteric artery, and an infrarenal aortic stenosis were detected at age 15 years. Leg edema and ectasia of the basilar artery were diagnosed at age 18 years. After an episode with an erysipela at age 34 years, he developed pericardial and pleural effusion during a 4-month period. Stenosis of the left subclavian vein at the level of thoracic duct insertion was detected. After repeated pleural punctures, pleural effusion was interpreted as chylothorax. Reduction of lymph fluid production by diet and injection of talcum into the pleural cavity had a long-term beneficial effect on the chylothorax. Leg edema and chylothorax were attributed to affliction of the lymph vessels by the NF-1.
Lymphangiopathy resulting in impaired lymph fluid flow and sequestration of lymph fluid into the pleural sinus and the legs may be a rare phenotypic feature of NF-1.
Url:
DOI: 10.2147/IJGM.S45825
PubMed: 24043952
PubMed Central: 3772692
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<author><name sortKey="Finsterer, Josef" sort="Finsterer, Josef" uniqKey="Finsterer J" first="Josef" last="Finsterer">Josef Finsterer</name>
<affiliation wicri:level="1"><nlm:aff id="af1-ijgm-6-743">Krankenanstalt Rudolfstiftung, Vienna, Austria</nlm:aff>
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<author><name sortKey="Stollberger, Claudia" sort="Stollberger, Claudia" uniqKey="Stollberger C" first="Claudia" last="Stollberger">Claudia Stollberger</name>
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<author><name sortKey="Stubenberger, Elisabeth" sort="Stubenberger, Elisabeth" uniqKey="Stubenberger E" first="Elisabeth" last="Stubenberger">Elisabeth Stubenberger</name>
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<author><name sortKey="Tschakoschian, Sasan" sort="Tschakoschian, Sasan" uniqKey="Tschakoschian S" first="Sasan" last="Tschakoschian">Sasan Tschakoschian</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema</title>
<author><name sortKey="Finsterer, Josef" sort="Finsterer, Josef" uniqKey="Finsterer J" first="Josef" last="Finsterer">Josef Finsterer</name>
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<author><name sortKey="Stollberger, Claudia" sort="Stollberger, Claudia" uniqKey="Stollberger C" first="Claudia" last="Stollberger">Claudia Stollberger</name>
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<author><name sortKey="Stubenberger, Elisabeth" sort="Stubenberger, Elisabeth" uniqKey="Stubenberger E" first="Elisabeth" last="Stubenberger">Elisabeth Stubenberger</name>
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<author><name sortKey="Tschakoschian, Sasan" sort="Tschakoschian, Sasan" uniqKey="Tschakoschian S" first="Sasan" last="Tschakoschian">Sasan Tschakoschian</name>
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<series><title level="j">International Journal of General Medicine</title>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>This case report documents the affliction of the lymph vessels as a phenotypic feature of neurofibromatosis-1 (NF-1).</p>
</sec>
<sec><title>Methodology</title>
<p>Routine transthoracic echocardiography, computed tomography scan of the thorax, magnetic resonance angiography of the renal arteries, and conventional digital subtraction angiography were applied. Comprehensive NF-1 mutation analysis was carried out by fluorescence in situ hybridization analysis, long-range reverse transcriptase polymerase chain reaction, and multiple-ligation probe assay. All other investigations were performed using routine, well-established techniques.</p>
</sec>
<sec><title>Results</title>
<p>The subject is a 34-year-old, half-Chinese male; NF-1 was suspected at age 15 years for the first time. His medical history included preterm birth, mild facial dysmorphism, “café au lait” spots, subcutaneous and paravertebral fibromas, multifocal tachycardia, atrial fibrillation, and heart failure in early infancy. Noncalcified bone fibromas in the femur and tibia were detected at age 8 years. Surgical right leg lengthening was carried out at age 11 years. Bilateral renal artery stenosis, stenosis and aneurysm of the superior mesenteric artery, and an infrarenal aortic stenosis were detected at age 15 years. Leg edema and ectasia of the basilar artery were diagnosed at age 18 years. After an episode with an erysipela at age 34 years, he developed pericardial and pleural effusion during a 4-month period. Stenosis of the left subclavian vein at the level of thoracic duct insertion was detected. After repeated pleural punctures, pleural effusion was interpreted as chylothorax. Reduction of lymph fluid production by diet and injection of talcum into the pleural cavity had a long-term beneficial effect on the chylothorax. Leg edema and chylothorax were attributed to affliction of the lymph vessels by the NF-1.</p>
</sec>
<sec><title>Discussion</title>
<p>Lymphangiopathy resulting in impaired lymph fluid flow and sequestration of lymph fluid into the pleural sinus and the legs may be a rare phenotypic feature of NF-1.</p>
</sec>
</div>
</front>
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<pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Int J Gen Med</journal-id>
<journal-id journal-id-type="iso-abbrev">Int J Gen Med</journal-id>
<journal-title-group><journal-title>International Journal of General Medicine</journal-title>
</journal-title-group>
<issn pub-type="epub">1178-7074</issn>
<publisher><publisher-name>Dove Medical Press</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24043952</article-id>
<article-id pub-id-type="pmc">3772692</article-id>
<article-id pub-id-type="doi">10.2147/IJGM.S45825</article-id>
<article-id pub-id-type="publisher-id">ijgm-6-743</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Finsterer</surname>
<given-names>Josef</given-names>
</name>
<xref ref-type="aff" rid="af1-ijgm-6-743">1</xref>
<xref ref-type="corresp" rid="c1-ijgm-6-743"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stollberger</surname>
<given-names>Claudia</given-names>
</name>
<xref ref-type="aff" rid="af2-ijgm-6-743">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stubenberger</surname>
<given-names>Elisabeth</given-names>
</name>
<xref ref-type="aff" rid="af3-ijgm-6-743">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tschakoschian</surname>
<given-names>Sasan</given-names>
</name>
<xref ref-type="aff" rid="af4-ijgm-6-743">4</xref>
</contrib>
</contrib-group>
<aff id="af1-ijgm-6-743"><label>1</label>
Krankenanstalt Rudolfstiftung, Vienna, Austria</aff>
<aff id="af2-ijgm-6-743"><label>2</label>
Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria</aff>
<aff id="af3-ijgm-6-743"><label>3</label>
Thoracic Surgery Department, Vienna, Austria</aff>
<aff id="af4-ijgm-6-743"><label>4</label>
Interne Lungenabt, Vienna, Austria</aff>
<author-notes><corresp id="c1-ijgm-6-743">Correspondence: Josef Finsterer, Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria, Tel +43 1 71165 92085, Fax +43 1 4781711, Email <email>fifigs1@yahoo.de</email>
</corresp>
</author-notes>
<pub-date pub-type="collection"><year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>09</day>
<month>9</month>
<year>2013</year>
</pub-date>
<volume>6</volume>
<fpage>743</fpage>
<lpage>746</lpage>
<permissions><copyright-statement>© 2013 Finsterer et al, publisher and licensee Dove Medical Press Ltd</copyright-statement>
<copyright-year>2013</copyright-year>
<license><license-p>This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.</license-p>
</license>
</permissions>
<abstract><sec><title>Background</title>
<p>This case report documents the affliction of the lymph vessels as a phenotypic feature of neurofibromatosis-1 (NF-1).</p>
</sec>
<sec><title>Methodology</title>
<p>Routine transthoracic echocardiography, computed tomography scan of the thorax, magnetic resonance angiography of the renal arteries, and conventional digital subtraction angiography were applied. Comprehensive NF-1 mutation analysis was carried out by fluorescence in situ hybridization analysis, long-range reverse transcriptase polymerase chain reaction, and multiple-ligation probe assay. All other investigations were performed using routine, well-established techniques.</p>
</sec>
<sec><title>Results</title>
<p>The subject is a 34-year-old, half-Chinese male; NF-1 was suspected at age 15 years for the first time. His medical history included preterm birth, mild facial dysmorphism, “café au lait” spots, subcutaneous and paravertebral fibromas, multifocal tachycardia, atrial fibrillation, and heart failure in early infancy. Noncalcified bone fibromas in the femur and tibia were detected at age 8 years. Surgical right leg lengthening was carried out at age 11 years. Bilateral renal artery stenosis, stenosis and aneurysm of the superior mesenteric artery, and an infrarenal aortic stenosis were detected at age 15 years. Leg edema and ectasia of the basilar artery were diagnosed at age 18 years. After an episode with an erysipela at age 34 years, he developed pericardial and pleural effusion during a 4-month period. Stenosis of the left subclavian vein at the level of thoracic duct insertion was detected. After repeated pleural punctures, pleural effusion was interpreted as chylothorax. Reduction of lymph fluid production by diet and injection of talcum into the pleural cavity had a long-term beneficial effect on the chylothorax. Leg edema and chylothorax were attributed to affliction of the lymph vessels by the NF-1.</p>
</sec>
<sec><title>Discussion</title>
<p>Lymphangiopathy resulting in impaired lymph fluid flow and sequestration of lymph fluid into the pleural sinus and the legs may be a rare phenotypic feature of NF-1.</p>
</sec>
</abstract>
<kwd-group><title>Keywords</title>
<kwd>angiodysplasia</kwd>
<kwd>lymph edema</kwd>
<kwd>lymph fluid</kwd>
<kwd>Recklinghausen’s disease</kwd>
<kwd>genetics</kwd>
<kwd>mutation</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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