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An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia

Idiopathic CD4 Lymphopenia is a heterogeneous condition, recognized in the late 20th century, with a wide spectrum of presentations, requiring a high index of suspicion to avoid misdiagnosing the condition. This case highlights the diversity in its clinical presentations in the context of an autosom...

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Autores principales: Bukhamseen, Fatimah, Al-Shamrani, Abdullah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601250/
https://www.ncbi.nlm.nih.gov/pubmed/36291470
http://dx.doi.org/10.3390/children9101534
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author Bukhamseen, Fatimah
Al-Shamrani, Abdullah
author_facet Bukhamseen, Fatimah
Al-Shamrani, Abdullah
author_sort Bukhamseen, Fatimah
collection PubMed
description Idiopathic CD4 Lymphopenia is a heterogeneous condition, recognized in the late 20th century, with a wide spectrum of presentations, requiring a high index of suspicion to avoid misdiagnosing the condition. This case highlights the diversity in its clinical presentations in the context of an autosomal dominant pattern of inheritance. We are reporting a case of a nine-year-old child, initially labelled by her primary treating hospital as primary ciliary dyskinesia after presenting with chronic cough, purulent nasal discharge, and recurrent chest infections. She was referred to our facility, a tertiary center, as her condition marginally improved. After the patient has undergone a comprehensive diagnostic workup, including a gene study, she was found to be carrying a mutation known to cause idiopathic CD4 lymphopenia. Extended work up of her family showed that two of her siblings have inherited an autosomal dominant mutation from their mother who had a milder form of the disease. This condition is an extremely rare condition in children, which can be easily mislabeled. Thus, healthcare providers should avoid labeling certain long-standing diseases unless the diagnosis has been established. We encourage leveraging the use of the latest revolutionary genetic testing techniques to confirm the diagnosis of such puzzling cases.
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spelling pubmed-96012502022-10-27 An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia Bukhamseen, Fatimah Al-Shamrani, Abdullah Children (Basel) Case Report Idiopathic CD4 Lymphopenia is a heterogeneous condition, recognized in the late 20th century, with a wide spectrum of presentations, requiring a high index of suspicion to avoid misdiagnosing the condition. This case highlights the diversity in its clinical presentations in the context of an autosomal dominant pattern of inheritance. We are reporting a case of a nine-year-old child, initially labelled by her primary treating hospital as primary ciliary dyskinesia after presenting with chronic cough, purulent nasal discharge, and recurrent chest infections. She was referred to our facility, a tertiary center, as her condition marginally improved. After the patient has undergone a comprehensive diagnostic workup, including a gene study, she was found to be carrying a mutation known to cause idiopathic CD4 lymphopenia. Extended work up of her family showed that two of her siblings have inherited an autosomal dominant mutation from their mother who had a milder form of the disease. This condition is an extremely rare condition in children, which can be easily mislabeled. Thus, healthcare providers should avoid labeling certain long-standing diseases unless the diagnosis has been established. We encourage leveraging the use of the latest revolutionary genetic testing techniques to confirm the diagnosis of such puzzling cases. MDPI 2022-10-07 /pmc/articles/PMC9601250/ /pubmed/36291470 http://dx.doi.org/10.3390/children9101534 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Bukhamseen, Fatimah
Al-Shamrani, Abdullah
An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia
title An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia
title_full An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia
title_fullStr An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia
title_full_unstemmed An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia
title_short An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia
title_sort under-recognized disease: a rare case of idiopathic cd4 lymphopenia mislabeled as primary ciliary dyskinesia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601250/
https://www.ncbi.nlm.nih.gov/pubmed/36291470
http://dx.doi.org/10.3390/children9101534
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