Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which arteriovenous communications are typically seen in the skin, mucosal surfaces, lungs, brain and gastrointestinal tract. This disease typically presents as epistaxis, gastrointestinal bleeding and arteriovenous malformations (in the brain and lungs). Although the epistaxis and gastrointestinal bleeding can result in anemia, patients diagnosed with hereditary hemorrhagic telangiectasia rarely present severe anemia. Herein, we report the case of a 49-year-old man with severe anemia and undiagnosed hereditary hemorrhagic telangiectasia.

Keywords: Hereditary hemorrhagic telangiectasia; Iron deficiency anemia; Case reports [publication type].

Madelung's disease, or multiple symmetric lipomatosis, is a rare disease, characterized by accumulation of unencapsulated fat, generally located symmetrically around the neck and shoulders. Here, we present the case of a patient with diffuse lipomatosis accompanied by obstructive sleep apnea due to cervical involvement and facial deformity, which made it necessary to use nasal pillows for ventilation. The patient was hospitalized with a diagnosis of pneumonia and required noninvasive ventilation due to severe hypercapnia. A brief review of the literature was made, and we describe and discuss the investigation of this rare clinical case.

Keywords: Lipomatosis, multiple symmetrical; Sleep apnea, obstructive; Continuous positive airway pressure; Masks.

Recurrent pneumonia is characterized by frequent infection and infiltrates in one or more lung lobes. The localized form of the disease is caused by intraluminal obstruction, extrinsic compression or structural abnormalities. The pattern, frequency and severity of the infections, together with a thorough review of all chest X-rays, inform the diagnosis. Herein, we report a case of recurrent pneumonia due to endobronchial obstruction by mucoepidermoid carcinoma.

Keywords: Pneumonia; Recurrent; Carcinoma, mucoepidermoid/diagnosis; Tomography, X-ray computed; Case reports

Pulmonary capillary hemangiomatosis is a rare disorder characterized by a proliferation of capillaries that invade the pulmonary interstitium and alveolar septae. Herein, we report the first Brazilian case of pulmonary capillary hemangiomatosis. A 21-year-old man presented with severe pulmonary hypertension that eventually resulted in his death. Upon admission, a computed tomography scan of the chest revealed diffuse ill-defined bilateral pulmonary nodules. A postmortem lung biopsy revealed pronounced multifocal proliferation of capillaries in the alveolar walls, interlobular septa and peribronchial connective tissue. A diagnosis of pulmonary capillary hemangiomatosis should be considered in patients presenting pulmonary hypertension and suspicious changes on high-resolution computed tomography scans.

Keywords: Hemangioma, capillary/etiology; Hemangioma capillary/diagnosis; Hypertension, pulmonary/complications; Tomography, Emission-Computed; Case report

Macrophage activation syndrome is a rare and potentially life-threatening disease. It occurs due to immune dysregulation manifested as excessive macrophage proliferation, typically causing hepatosplenomegaly, pancytopenia and hepatic dysfunction. Here, we report an unusual case of macrophage activation syndrome presenting as dyspnea, as well as (reported here for the first time) high resolution computed tomography findings of an excavated nodule, diffuse ground glass opacities and consolidations (mimicking severe pneumonia or alveolar hemorrhage). The patient was successfully treated with human immunoglobulin. We recommend that macrophage activation syndrome be considered in the differential diagnosis of respiratory failure. Rapid diagnosis and treatment are essential to achieving favorable outcomes in patients with this syndrome.

Keywords: Macrophage activation; Lymphohistiocytosis, hemophagocytic; Tomography, X-ray computed; Lung diseases, interstitial.

Objective: To estimate the prevalence of obstructive sleep apnea syndrome (OSAS) in children and adolescents with sickle cell anemia (SCA); to investigate the possible correlation between mean annual hemoglobin level and total sleep time with SpO2 < 90%, as well as between mean annual hemoglobin level and total sleep time with SpO2 < 80%; and to investigate the possible correlation between apnea-hypopnea index (AHI) and painful crisis. Methods: The study involved 85 patients with SCA. The patients completed a questionnaire, were submitted to polysomnography and underwent clinical evaluation (by a pediatrician and an otolaryngologist). An AHI > 1 was considered indicative of a diagnosis of OSAS. Results: The prevalence of OSAS was 10.6%. We found a negative correlation between mean annual hemoglobin level and total sleep time with SpO2 < 90% (r = −0.343; p = 0.002), as well as between mean annual hemoglobin level and total sleep time with SpO2 < 80% (r = −0.270; p = 0.016). There was no association between AHI and painful crisis. Conclusions: The prevalence of OSAS in this population was high (10.6%). Therefore, it is important to identify signs of OSAS as soon as possible and to determine the mean annual hemoglobin level because of the inverse correlation between that level and the total sleep time with SpO2 < 90% or < 80%.

Keywords: Prevalence; Sleep apnea, obstructive; Anemia, sickle cell; Polysomnography; Sleep apnea syndromes.

Objective: To evaluate quality of sleep and pulmonary function in clinically stable adolescents with sickle cell anemia (SCA). Methods: A cross-sectional descriptive study involving 50 patients with SCA submitted to nocturnal polysomnography and spirometry at the Brasília University Hospital. Anthropometric, polysomnographic and pulmonary function data were analyzed. Patients were divided into two groups according to oxygen saturation by pulse oximetry (SpO2) during rapid eye movement (REM) sleep: SpO2 ≤ 93%; and SpO2 > 93%. Descriptive statistics, Student's t-test, chi-square test and Pearson's correlation coefficient were used. Results: Mean age was 13.9 ± 2.5 years. Total sleep time and REM sleep percentage were lower, whereas REM sleep latency, the number of awakenings, movement during sleep, changes in sleep stage, sleep-disordered breathing index and obstructive apnea index were higher. Two patients (4%) did not present REM. There were statistically significant differences between the groups in most of the polysomnographic variables. The SpO2 in REM sleep presented a strong positive correlation with waking SpO2 and with SpO2 in non-REM sleep, whereas it presented a strong negative correlation with the percentage of total sleep time during which SPO2 was < 90%. Mean spirometric values were within normal ranges. Residual volume and the residual volume/total lung capacity/functional residual capacity ratio were elevated. Conclusion: Sleep impairment in clinically stable patients with SCA is probably due to hemoglobin desaturation and not to individual alterations in pulmonary function.

Keywords: Sleep disorders; Polysomnography; Adolescent; Anemia, sickle cell; Spirometry.

Here, we describe two cases of lung metastasis of adamantinoma of long bones, a low-grade bone neoplasm that rarely metastasizes. In both cases, the clinical presentation of the metastases was characterized by spontaneous pneumothorax secondary to tumor cavitation, a phenomenon described in only three of the studies reviewed in the literature. Clinical, radiological, and anatomopathological findings, as well as the procedures adopted in the two cases, are described.

Keywords: Adamantinoma; Pneumothorax; Neoplasm metastasis; Medical records.