Work

A Rare Case of Lipoid Proteinosis in a Patient Presenting With Seizures: A Case Report and Literature Review

Year: 2024

Type: article

Abstract: 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. This case highlights the neurological manifestations of lipoid proteinosis, an extremely rare autosomal recessive disorder, and emphasizes the importance of neuroimaging in its diagnosis.

Source: Cureus

DOI: 10.7759/cureus.73904

Authors: Chandrashekar Patil, Bhagwat Kadam, Sachin D Dawale, Saiprasad P Shelke, L Ramitha

Institutions: Malla Reddy Institute Of Medical Sciences, Mahatma Gandhi Institute of Medical Sciences, King Edward Memorial Hospital and Seth G.S. Medical College, S Nijalingappa Medical College and HSK Hospital & Research Centre

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4404484774