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Neuropathological Changes in Nakalanga Syndrome—A Case Report

Nakalanga syndrome is a clinical manifestation of onchocerciasis-associated epilepsy characterized by stunting, delayed or absent secondary sexual development and skeletal deformities, and is often accompanied by epileptic seizures. The pathophysiology of Nakalanga syndrome is unknown. Here, we desc...

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Autores principales: Hotterbeekx, An, Lammens, Martin, Onzivua, Sylvester, Lukande, Robert, Olwa, Francis, Kumar-Singh, Samir, Van Hees, Stijn, Idro, Richard, Colebunders, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912209/
https://www.ncbi.nlm.nih.gov/pubmed/33498763
http://dx.doi.org/10.3390/pathogens10020116
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author Hotterbeekx, An
Lammens, Martin
Onzivua, Sylvester
Lukande, Robert
Olwa, Francis
Kumar-Singh, Samir
Van Hees, Stijn
Idro, Richard
Colebunders, Robert
author_facet Hotterbeekx, An
Lammens, Martin
Onzivua, Sylvester
Lukande, Robert
Olwa, Francis
Kumar-Singh, Samir
Van Hees, Stijn
Idro, Richard
Colebunders, Robert
author_sort Hotterbeekx, An
collection PubMed
description Nakalanga syndrome is a clinical manifestation of onchocerciasis-associated epilepsy characterized by stunting, delayed or absent secondary sexual development and skeletal deformities, and is often accompanied by epileptic seizures. The pathophysiology of Nakalanga syndrome is unknown. Here, we describe the post-mortem findings of a 17-year-old female who died with Nakalanga syndrome in northern Uganda. Macroscopic and histopathological examination of all major organs (liver, lungs, kidney and heart), including the brain and the pituitary gland, was performed. The suspected cause of death was malaria, and all major organs and pituitary gland appeared normal, except the lungs, which were edematous consistent with the malaria. Neuropathological changes include signs of neuro-inflammation (gliosis and activated microglia), which co-localized with tau-reactive neurofibrillary tangles and threads. The pathology was most abundant in the frontal cortex, thalamic and hypothalamic regions, and mesencephalon. The choroid plexus showed psammoma bodies. These findings indicate accelerated aging, probably due to repeated seizures. The neuropathological findings were similar to other persons who died with onchocerciasis-associated epilepsy. Examination of the pituitary gland did not reveal new information concerning the underlying pathophysiological mechanism of Nakalanga syndrome. Therefore, more post-mortem studies should be performed.
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spelling pubmed-79122092021-02-28 Neuropathological Changes in Nakalanga Syndrome—A Case Report Hotterbeekx, An Lammens, Martin Onzivua, Sylvester Lukande, Robert Olwa, Francis Kumar-Singh, Samir Van Hees, Stijn Idro, Richard Colebunders, Robert Pathogens Case Report Nakalanga syndrome is a clinical manifestation of onchocerciasis-associated epilepsy characterized by stunting, delayed or absent secondary sexual development and skeletal deformities, and is often accompanied by epileptic seizures. The pathophysiology of Nakalanga syndrome is unknown. Here, we describe the post-mortem findings of a 17-year-old female who died with Nakalanga syndrome in northern Uganda. Macroscopic and histopathological examination of all major organs (liver, lungs, kidney and heart), including the brain and the pituitary gland, was performed. The suspected cause of death was malaria, and all major organs and pituitary gland appeared normal, except the lungs, which were edematous consistent with the malaria. Neuropathological changes include signs of neuro-inflammation (gliosis and activated microglia), which co-localized with tau-reactive neurofibrillary tangles and threads. The pathology was most abundant in the frontal cortex, thalamic and hypothalamic regions, and mesencephalon. The choroid plexus showed psammoma bodies. These findings indicate accelerated aging, probably due to repeated seizures. The neuropathological findings were similar to other persons who died with onchocerciasis-associated epilepsy. Examination of the pituitary gland did not reveal new information concerning the underlying pathophysiological mechanism of Nakalanga syndrome. Therefore, more post-mortem studies should be performed. MDPI 2021-01-23 /pmc/articles/PMC7912209/ /pubmed/33498763 http://dx.doi.org/10.3390/pathogens10020116 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Hotterbeekx, An
Lammens, Martin
Onzivua, Sylvester
Lukande, Robert
Olwa, Francis
Kumar-Singh, Samir
Van Hees, Stijn
Idro, Richard
Colebunders, Robert
Neuropathological Changes in Nakalanga Syndrome—A Case Report
title Neuropathological Changes in Nakalanga Syndrome—A Case Report
title_full Neuropathological Changes in Nakalanga Syndrome—A Case Report
title_fullStr Neuropathological Changes in Nakalanga Syndrome—A Case Report
title_full_unstemmed Neuropathological Changes in Nakalanga Syndrome—A Case Report
title_short Neuropathological Changes in Nakalanga Syndrome—A Case Report
title_sort neuropathological changes in nakalanga syndrome—a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912209/
https://www.ncbi.nlm.nih.gov/pubmed/33498763
http://dx.doi.org/10.3390/pathogens10020116
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