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Clinical cases

Unexplained basal oxygen desaturation in a patient with haemoglobinopathy

Haemoglobinathies are a heterogeneous group of congenital disorders that affect the structure, function or production of haemoglobin. Some of them due to its low affinity to oxygen may be accompanied by cyanosis and mild anemia. For this reason, in the differential diagnosis we should include heart and lung diseases and its presence be suspected in families or young patients with an unexplained basal oxygen desaturation.
Keywords: haemoglobinathies; basal unexplained oxygen desaturation; congenital heart disease

Sarcoidosis and Aspergillosis: case presentation

Sarcoidosis is a multisystemic inflammatory disease of unknown etiology, characterized by noncaseous epithelioid cell granulomas. The evolution of the disease may be complicated by opportunistic infections such as aspergillosis, that usually appears in type IV sarcoidosis. We present the case of a 74 year-old women with a history of sarcoidosis for over 7 years, who presented for hemoptysis. She was diagnosed with pulmonary cavitary aspergillosis and treatment with Itraconazole was initiated. The patient was monitored every two months. At the one year follow up, the patient was asymptomatic, with a good treatment tolerance and no decline in lung function, despite the pulmonary fibrosis. The sputum exams continued to be positive for Aspergillus, the HRCT-scan described a chronic pulmonary aspergillosis. The antifungical treatment was continued, under careful monitoring. The patient remained asymptomatic with no further decline in lung volumes. The particularity of the case consists in the lack of symptoms, despite pulmonary fibrosis, and the therapeutic challenges of chronic pulmonary aspergillosis.
Keywords: sarcoidosis, pulmonary aspergillosis, fibrosis

Pulmonary hypertension and von Recklinghausen’s disease: association and therapeutic difficulties

The neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a genetic disorder. The café-au-lait spots and neurofibromas are the most common manifestations. Respiratory symptoms are rare in this disease, described as neurofibromas, infiltrative lesions, cysts, bubbles or emphysema. Pulmonary hypertension is rarely reported. It is due to the plexiform lesions in pulmonary arterioles or to parenchymal lung lesions reducing the vascular bed. We report a case of idiopathic precapillary pulmonary hypertension in a young patient with Von Recklinghausen's disease.
Keywords: Neurofibromatosis type 1 (NF1), pulmonary arterial hypertension (PAH)