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A Case Report of Lipoid Proteinosis With Brain and Laryngeal Presentation Publisher



Kazemi MA1 ; Mazhin ZA2 ; Sharifian H1 ; Hemmati S1 ; Moradi B3
Authors
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Authors Affiliations
  1. 1. Department of Radiology, Amiralam Hospital, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Radiology, Iran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Radiology, Women’s Yas Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Radiology Published:2020


Abstract

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis. Genetic mutation leads to deposition of abnormal amounts of hyaline like material in the skin and viscera, which is the cause of clinical manifestations. It mostly involves the skin, intracra-nium, and the larynx. In this case report, we present a case with a long history of hoarseness. Imaging findings include bilateral true vocal cord (TVC) mucosal irregularity with hyperdense depositions, bilateral medial temporal amygdala parallel bean shape calcification (pathognomonic sign), and bilateral striatal (caudate and putamen) hypoattenuation. The patient also had multiple warty papules on the hands. Biopsy of the right TVC showed submucosal deposition of periodic acid-Schiff (PAS)-positive amorphous hyaline material and confirmed the diagnosis of lipoid proteinosis. Typical imaging findings especially in the brain could be very helpful in interpretation of laryngeal imaging findings in cases of lipoid proteinosis who manifest with long term voice changes and hoarseness. © 2020, Author(s).