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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation
American Journal of Medical Genetics, Part A, Volume 146, No. 21, Year 2008
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Description
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. © 2008 Wiley-Liss, Inc.
Authors & Co-Authors
Scott, Christiaan
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Briggs, Tracy A.
United Kingdom, Leeds
St James's University Hospital
Françès, Carnille
France, Paris
Hôpital Tenon
Lebon, Pierre
France, Paris
Université Paris Cité
Maisonobe, Thierry
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Rice, Gillian I.
United Kingdom, Leeds
University of Leeds, School of Medicine
Wouters, Carine Helena P.
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Yanick J. Crow, Yanick
United Kingdom, Leeds
University of Leeds, School of Medicine
United Kingdom, London
Wellcome Trust
Statistics
Citations: 31
Authors: 8
Affiliations: 8
Identifiers
Doi:
10.1002/ajmg.a.32518
ISSN:
15524833
Research Areas
Health System And Policy