Cargando…

Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report

BACKGROUND: Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemos...

Descripción completa

Detalles Bibliográficos
Autores principales: Ajmi, Houda, Bouafsoun, Chahra, Arifa, Nadia, Chemli, Jalel, Abroug, Saoussen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10007734/
https://www.ncbi.nlm.nih.gov/pubmed/36899396
http://dx.doi.org/10.1186/s13256-023-03807-2
_version_ 1784905595032174592
author Ajmi, Houda
Bouafsoun, Chahra
Arifa, Nadia
Chemli, Jalel
Abroug, Saoussen
author_facet Ajmi, Houda
Bouafsoun, Chahra
Arifa, Nadia
Chemli, Jalel
Abroug, Saoussen
author_sort Ajmi, Houda
collection PubMed
description BACKGROUND: Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemosiderosis and ischemic stroke due to protein C deficiency remain rare. CASE PRESENTATION: We report a case of a 2.5-year-old Tunisian girl with Down syndrome and hypothyroiditis admitted with dyspnea, anemia, and hemiplegia. Chest X-ray showed diffuse alveolar infiltrates. Laboratory tests showed severe anemia with hemoglobin of 4.2 g/dl without hemolysis. A diagnosis of idiopathic pulmonary hemosiderosis was confirmed by bronchoalveolar lavage showing numerous hemosiderin-laden macrophages, with a Golde score of 285 confirming the diagnosis of pulmonary hemosiderosis. Concerning hemiplegia, computed tomography showed multiple cerebral hypodensities suggestive of cerebral stroke. The etiology of these lesions was related to protein C deficiency. CONCLUSION: Idiopathic pulmonary hemosiderosis remains a severe disease, which is rarely associated with Down syndrome. The management of this disease in Down syndrome patients is difficult, especially when associated with an ischemic stroke secondary to protein C deficiency.
format Online
Article
Text
id pubmed-10007734
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-100077342023-03-12 Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report Ajmi, Houda Bouafsoun, Chahra Arifa, Nadia Chemli, Jalel Abroug, Saoussen J Med Case Rep Case Report BACKGROUND: Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemosiderosis and ischemic stroke due to protein C deficiency remain rare. CASE PRESENTATION: We report a case of a 2.5-year-old Tunisian girl with Down syndrome and hypothyroiditis admitted with dyspnea, anemia, and hemiplegia. Chest X-ray showed diffuse alveolar infiltrates. Laboratory tests showed severe anemia with hemoglobin of 4.2 g/dl without hemolysis. A diagnosis of idiopathic pulmonary hemosiderosis was confirmed by bronchoalveolar lavage showing numerous hemosiderin-laden macrophages, with a Golde score of 285 confirming the diagnosis of pulmonary hemosiderosis. Concerning hemiplegia, computed tomography showed multiple cerebral hypodensities suggestive of cerebral stroke. The etiology of these lesions was related to protein C deficiency. CONCLUSION: Idiopathic pulmonary hemosiderosis remains a severe disease, which is rarely associated with Down syndrome. The management of this disease in Down syndrome patients is difficult, especially when associated with an ischemic stroke secondary to protein C deficiency. BioMed Central 2023-03-11 /pmc/articles/PMC10007734/ /pubmed/36899396 http://dx.doi.org/10.1186/s13256-023-03807-2 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Ajmi, Houda
Bouafsoun, Chahra
Arifa, Nadia
Chemli, Jalel
Abroug, Saoussen
Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report
title Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report
title_full Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report
title_fullStr Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report
title_full_unstemmed Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report
title_short Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report
title_sort idiopathic pulmonary hemosiderosis and stroke secondary to protein c deficiency in a child with down syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10007734/
https://www.ncbi.nlm.nih.gov/pubmed/36899396
http://dx.doi.org/10.1186/s13256-023-03807-2
work_keys_str_mv AT ajmihouda idiopathicpulmonaryhemosiderosisandstrokesecondarytoproteincdeficiencyinachildwithdownsyndromeacasereport
AT bouafsounchahra idiopathicpulmonaryhemosiderosisandstrokesecondarytoproteincdeficiencyinachildwithdownsyndromeacasereport
AT arifanadia idiopathicpulmonaryhemosiderosisandstrokesecondarytoproteincdeficiencyinachildwithdownsyndromeacasereport
AT chemlijalel idiopathicpulmonaryhemosiderosisandstrokesecondarytoproteincdeficiencyinachildwithdownsyndromeacasereport
AT abrougsaoussen idiopathicpulmonaryhemosiderosisandstrokesecondarytoproteincdeficiencyinachildwithdownsyndromeacasereport