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Case Reports
. 2023 Mar 11;17(1):105.
doi: 10.1186/s13256-023-03807-2.

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

Houda Ajmi  1 , Chahra Bouafsoun  2 , Nadia Arifa  3 , Jalel Chemli  2 , Saoussen Abroug  2
Affiliations
Case Reports

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

Houda Ajmi et al. J Med Case Rep. .

Abstract

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.

Keywords: Cerebral stroke; Child; Down syndrome; Hemosiderosis; Protein C deficiency.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Chest X-ray showing diffuse alveolar infiltrates and no cardiomegaly
Fig. 2
Fig. 2
Non-compressive hypodensities in the right parietal cortex (arrows, a) and in the white matter areas (arrows b, c) related to the ischemic cerebral vascular accident
See this image and copyright information in PMC

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