ICNC Abstracts, ICNC 2018

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Intracranial Calcification, Spastic Paraparesis, Length Shortening and Immunological Disorders: Three SPENCDI Cases
MESUT GUNGOR, AYFER SAKARYA GUNES, BULENT KARA

Last modified: 2018-09-09

Abstract


Spondyloencondrodysplasia (SPENCD) is a rare skeletal dysplasia which is accompanied by metaphyseal and vertebral lesions. In these cases, it was noticed that immunoregulatory disorders were also frequently accompanied and the nomenclature was changed to SPENCDI (immun dysregulation accompanying spondyloendrondysplasia). Immune system disorders leading to excessive interferon-alpha production such as SLE, ITP, autoimmune hemolytic anemia can be seen in the cases. Homozygous mutations of the ACP5 gene, which encodes tartrate-resistant acid phosphatase (TRAP), are responsible for the disease. It is aimed to emphasize the clinical and radiological findings of this newly defined disease because of 3 cases of SPENCDI diagnosis from two different families.

 


Keywords


Calcification; SPENCD; immun dysregulation

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