BMJ case reports
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Case Reports
Twelve-year-old boy with recurrent presentations of shortness of breath: an intraluminal tracheal tumour.
A 12-year-old boy was admitted with symptoms of recurrent shortness of breath since 12 months along with mild intermittent retrosternal chest pain that had developed 3 weeks ago prior to admission. He was previously treated for asthma with no improvement. Initial posteroanterior chest X-ray (CXR) revealed no abnormality on two occasions. Lateral CXR showed a mass lesion in the distal trachea which was subsequently confirmed by a CT scan of the chest.
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Case Reports
Recovery of chylous pulmonary congestion in tuberous sclerosis complex-associated lymphangioleiomyomatosis.
Chyloptysis and chylous pulmonary congestion are extremely rare complications of lymphangioleiomyomatosis (LAM). We report a case of a 50-year-old woman with tuberous sclerosis complex-associated LAM, who presented with expectorating milky-white bronchial casts. ⋯ Her symptoms and lung infiltration were improved by oral sirolimus therapy; moreover, serum Krebs von den Lungen-6 (KL-6) levels paralleled the symptoms and lung infiltration of these complications. We suggest that serum KL-6 may be a useful monitoring biomarker of chyloptysis and chylous pulmonary congestion in LAM.
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Vaccine failure is a rare condition and the need to investigate a primary immunodeficiency is controversial. We present the case of a 4-year-old boy, with complete antipneumococcal vaccination, who had necrotising pneumonia with pleural effusion and severe pancytopaenia with need for transfusion. A vaccine-serotype Streptococcus pneumoniae was isolated in the blood culture. ⋯ Dyskeratosis congenita is an inherited disorder that causes shortening or dysfunction of telomeres, affecting mainly rapidly dividing cells (particularly in the skin and haematopoietic system). It leads to bone marrow failure, combined immunodeficiency and predisposition to cancer. The confirmation of this diagnosis allows genetic counselling and medical monitoring of these patients, in order to detect early complications such as bone marrow aplasia or malignancies.
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We report a case of two patients with foot drop due to peroneal nerve infarct as early sign of two different forms of primary systemic vasculitides: a predominantly small-vessel p-antineutrophil cytoplasmic antibody-positive vasculitis (microscopic polyangiitis) and a predominantly medium-vessel vasculitis (polyarteritis nodosa).
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Sore throat is a common complaint in the outpatient and emergency room settings. Typically, little workup is necessary and includes visual inspection with or without swabs for bacterial infection. We present a case that demonstrates an important entity to be excluded by simple history and physical examination in patients presenting with pain in the throat or neck. ⋯ Most cases of spontaneous pneumomediastinum are uncomplicated, as mediastinal pressures rarely mount to dangerous levels. However, when the patient presents with distended neck veins, cyanosis or marked dyspnoea, further action is necessary. Lastly, since pneumomediastinum can be caused by oesophageal rupture and occasionally present with concurrent pneumothorax, these dangerous entities must be excluded.