Neurofibromatose Typ 1 und assoziierte Krankheiten bei 27 Kindern und Jugendlichen

Syrbe, Steffen; Eberle, K.; Strenge, Sibylle; Bernhard, Matthias K.; Herbertz, S.; Bierbach, Uta; Hirsch, Wolfgang; Froster, Ursula G.; Kieß, Wieland; Merkenschlager, Andreas

doi:10.1055/s-2007-973086

Cited by 13 publications

(4 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Though affliction of the lymphatic vessels in NF-1 is regarded as rare,10 it has occasionally been reported 2,7,8,11. Lymphangiopathy frequently manifests as leg edema.…”

Section: Discussionmentioning

confidence: 99%

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

Finsterer¹,

Stöllberger²,

Stubenberger³

et al. 2013

IJGM

View full text Add to dashboard Cite

BackgroundThis case report documents the affliction of the lymph vessels as a phenotypic feature of neurofibromatosis-1 (NF-1).MethodologyRoutine 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.ResultsThe 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.DiscussionLymphangiopathy 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.

show abstract

“…Though affliction of the lymphatic vessels in NF-1 is regarded as rare,10 it has occasionally been reported 2,7,8,11. Lymphangiopathy frequently manifests as leg edema.…”

Section: Discussionmentioning

confidence: 99%

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

Finsterer¹,

Stöllberger²,

Stubenberger³

et al. 2013

IJGM

View full text Add to dashboard Cite

show abstract

“…Seltener treten Pubertätstörungen (bis 25 %), Epilepsien (<14 %) und Kleinwuchs (10 %) auf (8,22,26). Für den Pädiater wichtig sind das frühe Erkennen dieser Komplikationen und das Einleiten spezifischer Therapien und Fördermaßnahmen.…”

Section: %)unclassified

Die klassischen Phakomatosen

Syrbe¹,

Bernhard²,

Bertsche³

et al. 2012

Kinder- und Jugendmedizin

Self Cite

View full text Add to dashboard Cite

ZusammenfassungKinder mit Phakomatosen bzw. neurokutanen Syndromen bedürfen aufgrund vielfältiger Organmanifestationen sowie assoziierter Entwicklungsstörungen einer komplexen Betreuung. Neben einer kurzen Übersichtsdarstellung der wichtigsten klinischen Merkmale der klassischen Phakomatosen (Neurofibromatose Typ 1, tuberöse Sklerose, von HippelLindau-Erkrankung, Sturge-Weber-KrabbeSyndrom und Gorlin-Goltz-Syndrom) geht der vorliegende Artikel auf aktuelle pathophysiologische und therapeutische Aspekte ein.

show abstract

“…Auch Tumoren des R ü ckenmarks k ö nnen zu einer Schiefhaltung f ü hren. In diff erenzialdiagnostische Erw ä gung sollte ferner eine Neurofi bromatose Typ 1 gezogen werden, bei der in etwa 22 % der F ä lle intrazerebrale Astrozytome im Kindesalter beschrieben werden und neurologische Auff ä lligkeiten wie Entwicklugsverz ö gerung, Hirndruckzeichen und Fehlhaltungen auftreten k ö nnen [33] . Mit einer gesch ä tzten Pr ä valenz von 0,5 -1: 1 000 000 ist die Dopamin-responsive Dystonie (DRD) eine seltene, jedoch gut behandelbare Form der Schiefhaltung.…”

Section: Nicht Angeborene Formen Des Torticollisunclassified

„Cases against KiSS”: Ein diagnostischer Algorithmus des frühkindlichen Torticollis

Happle

Wetzke²,

Hermann³

et al. 2009

Klin Padiatr

View full text Add to dashboard Cite

In 1991, Biedermann coined the term "kinetic imbalance due to suboccipital strain" ("KiSS-syndrome"). He assumed a functional abnormality of the suboccipital-high cervical spine, resulting in positional preference of the infant;s head. A broad spectrum of symptoms and complaints have been attributed to "KiSS-Syndrome". Patients are advised to undergo manual therapy, with pressure applied locally in order to readjust the cervical spine. Life threatening side-effects have been published repeatedly. We present two infants with brain tumours who developed torticollis and further neurological findings such as ataxia and reflex differences. In both cases, symptoms caused by the tumour were interpreted as "KiSS-syndrome", and appropriate diagnostics and therapy were delayed for months. There is no scientific evidence for the actual existence of "KiSS-syndrome" as a clinical entity or for the positive effects of manual therapy. Approximately 12% of all infants <12 months show a positional preference of the head, about 8% present with body asymmetry. Whereas most cases are benign, there is a long list of serious differential diagnoses for torticollis in infants. We give an updated review of the literature regarding "KiSS-Syndrome" and discuss the differential diagnostics in infants with torticollis.

show abstract

Neurofibromatose Typ 1 und assoziierte Krankheiten bei 27 Kindern und Jugendlichen

Cited by 13 publications

References 8 publications

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

Die klassischen Phakomatosen

„Cases against KiSS”: Ein diagnostischer Algorithmus des frühkindlichen Torticollis

Contact Info

Product

Resources

About