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.
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http://dx.doi.org/10.7860/JCDR/2012/4481.2569 | DOI Listing |
Cureus
November 2024
Paediatrics, S Nijalingappa Medical College and Hanagal Shree Kumareshwar (HSK) Hospital and Research Centre, Bagalkot, IND.
Lipoid proteinosis is a rare genetic disorder affecting the skin, mucous membranes, and central nervous system. Here, we present the case of a 35-year-old female who presented with two episodes of seizures followed by loss of consciousness and injury to the nose. A CT scan and MRI of the brain revealed small symmetrical calcifications in the bilateral medial temporal lobes, a finding highly suggestive of lipoid proteinosis.
View Article and Find Full Text PDFIndian J Psychol Med
September 2024
Dept. of Psychiatry, GCS Medical College, Hospital and Research Centre, Ahmedabad, Gujarat, India.
Cureus
September 2024
Radiology, Lebanese American University School of Medicine, Beirut, LBN.
Indian Dermatol Online J
May 2024
Department of Radiology, Institute of Liver and Biliary Sciences, New Delhi, India.
Arq Neuropsiquiatr
November 2024
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurorradiologia, São Paulo SP, Brazil.
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