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

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.

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Publication Details

Journal
Cureus
Published
2024-11-18
DOI
https://doi.org/10.7759/cureus.73904
Primary Topic
Genital Health and Disease
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Chandrashekar Patil, L Ramitha, Bhagwat Kadam, Sachin D Dawale et al.
Cureus
Genital Health and Disease
article

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

Chandrashekar Patil, L Ramitha, Bhagwat Kadam, Sachin D Dawale, Saiprasad P Shelke
article en

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.

CureusVol. 16(11)
King Edward Memorial Hospital and Seth G.S. Medical College (IN), University College for Women (IN), Women Medical College (PK), S Nijalingappa Medical College and HSK Hospital & Research Centre (IN), Mahatma Gandhi Institute of Medical Sciences (IN)
Zero hunger
Openalex Percentile: Top 61%
Genital Health and Disease
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