Kachewar Sushil G, Kulkarni Devidas S
Associate Prof. Radio-diagnosis, RMC , PMT, Loni, India.
J Clin Diagn Res. 2012 Nov;6(9):1579-81. doi: 10.7860/JCDR/2012/4481.2569.
Lipoid Proteinosis (LP) is a genetically linked, autosomally transferred, rare, chronic multisystem disease which is characterized by a normal lipid profile, but with abnormal deposits of lipids and proteins in the body, which slowly but steadily leads to systemic manifestations. Although it affects almost all the systems of the body, it predominantly manifests as lesions on the skin and it has characteristic intracranial calcifications. Although, the intracranial calcifications can be classified, based on their aetiopathogenesis, as agerelated and physiologic, congenital, infectious, endocrine and metabolic, vascular, and neoplastic; the symmetric calcifications in LP are a distinct entity. To one who is aware of this entity, LP is usually an incidental diagnosis. No permanent cure is available for LP till date. Only symptomatic medical treatment is being given. With the increasing awareness on this entity, LP can now be detected in its early phase and it can be better managed.As this condition is rare, it is necessary to spread awareness on this entity in the scientific community and hence this case is being reported. This case report is the first to demonstrate a novel association of an additional intracranial calcification in Lipoid Proteinosis.
类脂蛋白沉积症(LP)是一种与基因相关、常染色体显性遗传的罕见慢性多系统疾病,其特征是血脂谱正常,但体内脂质和蛋白质异常沉积,缓慢但持续地导致全身表现。尽管它几乎影响身体的所有系统,但主要表现为皮肤病变,并有特征性的颅内钙化。虽然颅内钙化根据其病因发病机制可分为与年龄相关的生理性、先天性、感染性、内分泌和代谢性、血管性和肿瘤性;但LP中的对称性钙化是一种独特的类型。对于了解这种类型的人来说,LP通常是偶然诊断出来的。迄今为止,LP尚无永久性治愈方法。目前仅进行对症治疗。随着对该疾病的认识不断提高,现在可以在LP的早期阶段对其进行检测,并能更好地进行管理。由于这种疾病很罕见,有必要在科学界传播对该疾病的认识,因此报告了该病例。本病例报告首次展示了类脂蛋白沉积症中一种额外颅内钙化的新关联。