{"orpha":449427,"name":"IgG4-related pachymeningitis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Idiopathic hypertrophic pachymeningitis"],"definition":"A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-449427/","orphanet_url":"https://www.orpha.net/en/disease/detail/449427","names":{"fr":{"name":"Pachyméningite associée à IgG4","synonyms":["Pachyméningite hypertrophique idiopathique"],"definition":"Maladie inflammatoire du cerveau rare caractérisée par l'épaississement de la dure-mère du crâne ou de la colonne vertébrale, et par au moins deux caractéristiques histopathologiques de maladie associée à IgG4 : infiltration lymphoplasmocytaire dense, fibrose storiforme et/ou phlébite oblitérante. L'examen du LCR n'est généralement pas spécifique, et les patients peuvent ne présenter aucune atteinte systémique ni aucune augmentation du taux d'IgG4 sériques. Les manifestations cliniques sont dues à une compression mécanique des structures telles que les nerfs ou les vaisseaux, entraînant un déficit fonctionnel, le plus souvent des céphalées, une paralysie du nerf crânien, des troubles de la vision et une faiblesse motrice."},"de":{"name":"Pachymeningitis, IgG4-assoziierte","synonyms":["Idiopathische hypertrophe Pachymeningitis"],"definition":"Eine seltene, entzündliche Erkrankung des Gehirns, die durch eine Verdickung der Dura mater des Schädels oder der Wirbelsäule mit mindestens zwei histiopatholgischen Merkmalen einer IgG4-assoziierten Erkrankung gekennzeichnet ist: dichtes lymphoplasmatisches Infiltrat, storiforme Fibrose und/oder obliterative Phlebitis. Typischerweise haben die Patienten einen unspezifischen Liquorbefund und zeigen möglicherweise keine systemische Beteiligung oder einen Anstieg von Serum-IgG4. Die klinische Manifestation wird durch eine mechanische Kompression von Nerven- oder Gefäßstrukturen verursacht, die zu funktionellen Defiziten führt, am häufigsten Kopfschmerzen, Hirnnervenlähmungen, Sehstörungen und motorische Schwäche."},"es":{"name":"Paquimeningitis asociada a IgG4","synonyms":["Paquimeningitis hipertrófica idiopática"],"definition":"Es una enfermedad inflamatoria del cerebro poco frecuente caracterizada por un engrosamiento de la duramadre craneal y espinal con al menos dos hallazgos histopatológicos de enfermedad asociada a IgG4: infiltrado linfoplasmocítico denso, fibrosis estoriforme y/o flebitis obliterante. Los pacientes muestran típicamente hallazgos inespecíficos en el LCR, y pueden no manifestar afectación sistémica ni incremento de la IgG4 sérica. Las manifestaciones clínicas están causadas por la compresión mecánica del nervio o de la estructura vascular, que originan una deficiencia funcional, más frecuentemente cefalea, parálisis de los nervios craneales, problemas de visión y debilidad motora."},"it":{"name":"Pachimeningite correlata alle IgG4","synonyms":["Pachimeningite ipertrofica idiopatica"],"definition":"Si tratta di una malattia infiammatoria cerebrale rara, caratterizzata dall'ispessimento della dura madre del cranio o della colonna, con almeno due caratteristiche istopatologiche della malattia correlata alle IgG4: l'infiltrato denso linfoplasmacellulare, la fibrosi storiforme e/o la flebite obliterativa. Di solito i pazienti presentano reperti aspecifici nel liquor cefalorachidiano; è possibile la mancanza di un interessamento sistemico e di un aumento dei livelli delle IgG4 nel siero. I segni clinici sono secondari alla compressione delle strutture nervose o vascolari, ed esitano in deficit funzionali, (i più comuni sono la cefalea, le paralisi dei nervi cranici, i problemi di vista e la debolezza motoria)."},"nl":{"name":"IgG4-gerelateerde pachymeningitis","synonyms":["Idiopathische hypertrofe pachymeningitis"],"definition":"Een zeldzame, inflammatoire hersenziekte gekarakteriseerd door verdikking van de dura mater (harde hersenvlies) van de schedel of ruggengraat met minstens twee histopathologische kenmerken van IgG4-gerelateerde ziekte: dens lymfoplasmacytair infiltraat, storiforme fibrose, en/of obliteratieve flebitis. Doorgaans hebben patiënten niet-specifieke bevindingen van het cerebrospinaal vocht, en vertonen mogelijk geen systemische betrokkenheid of een toename van IgG4 in het serum. Klinische manifestaties worden veroorzaakt door mechanische compressie van een zenuw of vasculaire structuur, wat leidt tot een functionele stoornis, meestal hoofdpijn, hersenzenuwverlammingen, visuele problemen en motorische zwakte."},"pt":{"name":"Paquimeningite IgG4-relacionada"},"pl":{"name":"Zapalenie opony twardej związane z IgG4","synonyms":["Idiopatyczne przerostowe zapalenie opony twardej"]},"cs":{"name":"IgG4 asociovaná pachymeningitida","synonyms":["Idiopatická hypertrofická pachymeningitida"]},"uk":{"name":"Пахіменінгіт, повязаний з IgG4","synonyms":["Ідіопатичний гіпертрофічний пахіменінгіт"],"definition":"A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness."},"zh":{"name":"IgG4相关硬脑膜炎","synonyms":["特发性增生肥厚性脑膜炎"],"definition":"罕见的脑部炎症性疾病，特征在于头部或脊柱的硬脑膜增厚，具有至少两种与IgG4相关的疾病的组织病理学特征：密集的淋巴浆细胞浸润，星形胶质纤维化和/或闭塞性静脉炎。患者通常无特异性的CSF阳性发现，并且可能没有全身性受累或血清IgG4升高。临床表现是由神经或血管结构的机械压迫引起的，导致功能障碍，最常见的是头痛，颅神经麻痹，视力障碍和运动无力。"},"tr":{"name":"IgG4-ilişkili pakimenenjit","synonyms":["İdiyopatik Hipertrofik pakimenenjit"]}},"xrefs":[{"source":"ICD-10","code":"G03.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1140264879"},{"source":"MONDO","code":"0018673","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4545992","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13256","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102005,"name":"Brain inflammatory disease","classifications":[181]},{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24733677[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-20","source":"31355304[PMID]_27592235[PMID]_31155444[PMID]","terms":[{"hpo":"HP:0010652","label":"Abnormal dura mater morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032300","label":"Increased circulating IgG4 level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009744","label":"Abnormal spinal dura mater morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009911","label":"Abnormal temporal bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000035","label":"Abnormality of cervical plexus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045052","label":"Abnormality of the brachial nerve plexus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010558","label":"Abnormality of the clivus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011850","label":"Parotitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Very rare (<4-1%)","criteria":null}]}}