Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation
Copyright 2008 Wiley-Liss, Inc..
Although the diagnosis of spondyloenchondrodysplasia (SPENCD) can only be made in the presence of characteristic metaphyseal and vertebral lesions, a recent report has highlighted the pleiotropic manifestations of this disorder which include significant neurological involvement and variable immune dysfunction. Here we present two patients, one of whom was born to consanguineous parents, further illustrating the remarkable clinical spectrum of this disease. Although both patients demonstrated intracranial calcification, they were discordant for the presence of mental retardation, spasticity and white matter abnormalities. And whilst one patient had features consistent with diagnoses of Sjögren syndrome, polymyositis, hypothyroidism and severe scleroderma, the other patient had clinical manifestations and an autoantibody profile of systemic lupus erythematosus. These cases further illustrate the association of SPENCD with immune dysregulation and highlight the differential diagnosis with Aicardi-Goutières syndrome and other disorders associated with the presence of intracranial calcification. Undoubtedly, identification of the underlying molecular and pathological basis of SPENCD will provide important insights into immune and skeletal regulation.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2008 |
|---|---|
| Erschienen: |
2008 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:146A |
|---|---|
| Enthalten in: |
American journal of medical genetics. Part A - 146A(2008), 21 vom: 01. Nov., Seite 2810-5 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Navarro, V [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Completed 09.12.2008 Date Revised 30.09.2020 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.1002/ajmg.a.32518 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM183706560 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM183706560 | ||
| 003 | DE-627 | ||
| 005 | 20231223165149.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231223s2008 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/ajmg.a.32518 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0612.xml |
| 035 | |a (DE-627)NLM183706560 | ||
| 035 | |a (NLM)18924170 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Navarro, V |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation |
| 264 | 1 | |c 2008 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 09.12.2008 | ||
| 500 | |a Date Revised 30.09.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright 2008 Wiley-Liss, Inc. | ||
| 520 | |a Although the diagnosis of spondyloenchondrodysplasia (SPENCD) can only be made in the presence of characteristic metaphyseal and vertebral lesions, a recent report has highlighted the pleiotropic manifestations of this disorder which include significant neurological involvement and variable immune dysfunction. Here we present two patients, one of whom was born to consanguineous parents, further illustrating the remarkable clinical spectrum of this disease. Although both patients demonstrated intracranial calcification, they were discordant for the presence of mental retardation, spasticity and white matter abnormalities. And whilst one patient had features consistent with diagnoses of Sjögren syndrome, polymyositis, hypothyroidism and severe scleroderma, the other patient had clinical manifestations and an autoantibody profile of systemic lupus erythematosus. These cases further illustrate the association of SPENCD with immune dysregulation and highlight the differential diagnosis with Aicardi-Goutières syndrome and other disorders associated with the presence of intracranial calcification. Undoubtedly, identification of the underlying molecular and pathological basis of SPENCD will provide important insights into immune and skeletal regulation | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Scott, C |e verfasserin |4 aut | |
| 700 | 1 | |a Briggs, T A |e verfasserin |4 aut | |
| 700 | 1 | |a Barete, S |e verfasserin |4 aut | |
| 700 | 1 | |a Frances, C |e verfasserin |4 aut | |
| 700 | 1 | |a Lebon, P |e verfasserin |4 aut | |
| 700 | 1 | |a Maisonobe, T |e verfasserin |4 aut | |
| 700 | 1 | |a Rice, G I |e verfasserin |4 aut | |
| 700 | 1 | |a Wouters, C H |e verfasserin |4 aut | |
| 700 | 1 | |a Crow, Y J |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t American journal of medical genetics. Part A |d 2003 |g 146A(2008), 21 vom: 01. Nov., Seite 2810-5 |w (DE-627)NLM122607996 |x 1552-4833 |7 nnns |
| 773 | 1 | 8 | |g volume:146A |g year:2008 |g number:21 |g day:01 |g month:11 |g pages:2810-5 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1002/ajmg.a.32518 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 146A |j 2008 |e 21 |b 01 |c 11 |h 2810-5 | ||