IgG4-related pachymeningitis
Synonyms: Idiopathic hypertrophic pachymeningitis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IgG4-related pachymeningitis | Idiopathic hypertrophic pachymeningitis |
| fr | Pachyméningite associée à IgG4 | Pachyméningite hypertrophique idiopathique |
| de | Pachymeningitis, IgG4-assoziierte | Idiopathische hypertrophe Pachymeningitis |
| es | Paquimeningitis asociada a IgG4 | Paquimeningitis hipertrófica idiopática |
| it | Pachimeningite correlata alle IgG4 | Pachimeningite ipertrofica idiopatica |
| nl | IgG4-gerelateerde pachymeningitis | Idiopathische hypertrofe pachymeningitis |
| pt | Paquimeningite IgG4-relacionada | |
| pl | Zapalenie opony twardej związane z IgG4 | Idiopatyczne przerostowe zapalenie opony twardej |
| cs | IgG4 asociovaná pachymeningitida | Idiopatická hypertrofická pachymeningitida |
| uk | Пахіменінгіт, повязаний з IgG4 | Ідіопатичний гіпертрофічний пахіменінгіт |
| zh | IgG4相关硬脑膜炎 | 特发性增生肥厚性脑膜炎 |
| tr | IgG4-ilişkili pakimenenjit | İdiyopatik Hipertrofik pakimenenjit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G03.9 | NTBT | attributed | validated |
| ICD-11 | 4A43.0 | NTBT | index | validated |
| MONDO | 0018673 | E | validated | |
| UMLS | C4545992 | E | validated | |
| GARD | 13256 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102005Brain inflammatory disease
rare neurological diseases - ORPHA:596448IgG4-related systemic disease
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24733677[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
39 annotations · validated 2021-05-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010652 | Abnormal dura mater morphology | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| Frequent (79-30%) | ||
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0002315 | Headache | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0032300 | Increased circulating IgG4 level | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0012531 | Pain | |
| Occasional (29-5%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0009744 | Abnormal spinal dura mater morphology | |
| HP:0009911 | Abnormal temporal bone morphology | |
| HP:3000035 | Abnormality of cervical plexus | |
| HP:0045052 | Abnormality of the brachial nerve plexus | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0010558 | Abnormality of the clivus | |
| HP:0002381 | Aphasia | |
| HP:0001289 | Confusion | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000651 | Diplopia | |
| HP:0002015 | Dysphagia | |
| HP:0002094 | Dyspnea | |
| HP:0000738 | Hallucinations | |
| HP:0003419 | Low back pain | |
| HP:0002840 | Lymphadenitis | |
| HP:0001268 | Mental deterioration | |
| HP:0030833 | Neck pain | |
| HP:0000123 | Nephritis | |
| HP:0001733 | Pancreatitis | |
| HP:0002385 | Paraparesis | |
| HP:0011850 | Parotitis | |
| HP:0001250 | Seizure | |
| HP:0000246 | Sinusitis | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0002176 | Spinal cord compression | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0004431 | Complement deficiency | |
| HP:0001880 | Increased total eosinophil count | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31355304[PMID]_27592235[PMID]_31155444[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/449427
- This record as JSON: /data/d/449427.json