A Case Report of Lipoid Proteinosis with Brain and Laryngeal Presentation

Abstract

<jats:p>: Lipoid proteinosis 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, intracranium, 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.</jats:p>

Understanding Lipoid Proteinosis: A Brief Overview

“…The first clinical sign is often a weak cry or hoarseness of voice due to the infiltration of laryngeal mucosa. Hoarseness is present in approximately two-thirds of patients at birth or early infancy and persists throughout life [3,5]. The tongue is usually enlarged due to diffuse infiltration and restricted mobility due to frenulum involvement, leading to speech difficulties [3,4].…”

“…Additionally, the central nervous system, respiratory system, upper gastrointestinal tract, blood vessels, and lymph nodes may also be affected [7]. Central nervous system involvement is seen in 50% -75% of individuals, with neurological symptoms like epilepsy, memory loss, mental retardation, emotional changes, schizophrenic behavior, depression, anxiety disorder, and other neuropsychiatric abnormalities observed [2,5,7]. In CNS involvement, hippocampal capillaries are common sites of infiltration, along with wall thickening and subsequent perivascular calcium deposition [5].…”

“…In 1908, Siebenmann first described Lipoid proteinosis [3,4]. Later, in 1929, two Viennese physicians, Erich Urbach, a dermatologist, and Camillo Wiethe, an otolaryngologist, established it as a distinct entity by presenting a case series [3,5]. In 1930, Urbach renamed it as "LP cutis et mucosae [4]. "…”

“…In 1930, Urbach renamed it as "LP cutis et mucosae [4]. " It is more common among Europeans (e.g., Germany) and South Africa but has also been reported from other parts of the world such as India and Japan [4,5]. The Namaqualand region in South Africa has the largest number of LP patients sharing a common mutation, indicating a founder effect.…”

Lipoid Proteinosis

“…[ 4 ] A pathognomic radiographic finding is bilateral intracranial sickle-shaped calcification in amygdala. [ 5 ] A review of literature is given in Table 1 . There are only around 300 such cases reported in the medical literature; 30 cases from India and very few from eastern India.…”