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Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A) involved in th...

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Autores principales: Pimentel Campillo, Jorge, Corona Castillo, Daneybi, Nunez, Marco, Finke Abbott, Ana, Pichardo, Jesús
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382790/
https://www.ncbi.nlm.nih.gov/pubmed/37519569
http://dx.doi.org/10.7759/cureus.41119
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author Pimentel Campillo, Jorge
Corona Castillo, Daneybi
Nunez, Marco
Finke Abbott, Ana
Pichardo, Jesús
author_facet Pimentel Campillo, Jorge
Corona Castillo, Daneybi
Nunez, Marco
Finke Abbott, Ana
Pichardo, Jesús
author_sort Pimentel Campillo, Jorge
collection PubMed
description Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A) involved in the cohesin complex, which plays a critical role in chromosome segregation and gene expression regulation. Clinical findings typically include dysmorphic facial features (arched eyebrows, synophrys, long eyelashes, ptosis, long philtrum, thin upper lip, and posteriorly rotated ears), growth and mental retardation, upper limb defects (clinodactyly and limb deficiencies), gastrointestinal complications (gastroesophageal reflux, pyloric stenosis, diaphragmatic hernia, malrotation, and volvulus), and heart defects (ventricular and atrial septal defects). In addition, chronic respiratory tract infections including sinusitis and pneumonia have been frequently described in this population. The early recognition and diagnosis of CdLS through genetic testing are crucial to ensure appropriate medical management and early intervention therapies to improve the outcomes of affected individuals. The thyroid gland is not affected by this congenital disease, but complications can arrive in this organ by other disease-related organ malfunctions. Pneumonia-induced thyroiditis is a potentially life-threatening condition that can occur in patients with underlying thyroid disease who also develop pneumonia. The symptoms are due to the hypermetabolic state induced by excess thyroid hormones and include weight loss, heat intolerance, and palpitations. There are many different causes of thyrotoxicosis. It is important to determine the cause since treatment is based on the underlying etiology. The diagnosis of pneumonia-induced thyrotoxicosis can be challenging as symptoms may mimic other conditions and laboratory testing may not always provide a clear answer. The diagnosis is confirmed with low thyroid-stimulating hormone (TSH) and elevated free thyroxine (T4) and triiodothyronine (T3), erythrocyte sedimentation rate (ESR), and C-reactive protein. The management of the condition involves prompt recognition, supportive care, and the use of medications to lower thyroid hormone levels, such as beta-blockers, antithyroid drugs, steroids, and iodine. In severe cases, plasmapheresis or thyroidectomy may be necessary.
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spelling pubmed-103827902023-07-30 Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS) Pimentel Campillo, Jorge Corona Castillo, Daneybi Nunez, Marco Finke Abbott, Ana Pichardo, Jesús Cureus Endocrinology/Diabetes/Metabolism Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A) involved in the cohesin complex, which plays a critical role in chromosome segregation and gene expression regulation. Clinical findings typically include dysmorphic facial features (arched eyebrows, synophrys, long eyelashes, ptosis, long philtrum, thin upper lip, and posteriorly rotated ears), growth and mental retardation, upper limb defects (clinodactyly and limb deficiencies), gastrointestinal complications (gastroesophageal reflux, pyloric stenosis, diaphragmatic hernia, malrotation, and volvulus), and heart defects (ventricular and atrial septal defects). In addition, chronic respiratory tract infections including sinusitis and pneumonia have been frequently described in this population. The early recognition and diagnosis of CdLS through genetic testing are crucial to ensure appropriate medical management and early intervention therapies to improve the outcomes of affected individuals. The thyroid gland is not affected by this congenital disease, but complications can arrive in this organ by other disease-related organ malfunctions. Pneumonia-induced thyroiditis is a potentially life-threatening condition that can occur in patients with underlying thyroid disease who also develop pneumonia. The symptoms are due to the hypermetabolic state induced by excess thyroid hormones and include weight loss, heat intolerance, and palpitations. There are many different causes of thyrotoxicosis. It is important to determine the cause since treatment is based on the underlying etiology. The diagnosis of pneumonia-induced thyrotoxicosis can be challenging as symptoms may mimic other conditions and laboratory testing may not always provide a clear answer. The diagnosis is confirmed with low thyroid-stimulating hormone (TSH) and elevated free thyroxine (T4) and triiodothyronine (T3), erythrocyte sedimentation rate (ESR), and C-reactive protein. The management of the condition involves prompt recognition, supportive care, and the use of medications to lower thyroid hormone levels, such as beta-blockers, antithyroid drugs, steroids, and iodine. In severe cases, plasmapheresis or thyroidectomy may be necessary. Cureus 2023-06-28 /pmc/articles/PMC10382790/ /pubmed/37519569 http://dx.doi.org/10.7759/cureus.41119 Text en Copyright © 2023, Pimentel Campillo et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
Pimentel Campillo, Jorge
Corona Castillo, Daneybi
Nunez, Marco
Finke Abbott, Ana
Pichardo, Jesús
Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
title Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
title_full Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
title_fullStr Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
title_full_unstemmed Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
title_short Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
title_sort pneumonia-induced thyroid crisis with thyrotoxicosis exacerbation: de novo graves' disease presentation on a cornelia de lange syndrome (cdls)
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382790/
https://www.ncbi.nlm.nih.gov/pubmed/37519569
http://dx.doi.org/10.7759/cureus.41119
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