This study assessed two 85-year-old patients diagnosed with diastolic heart failure and persistent respiratory insufficiency characterized by severe obstructive ventilatory disorder and gas exchange alterations. The possibility that the respiratory impairment was consequent to primary pulmonary disease was excluded. Radiological signs of mild pulmonary edema had been observed in 1 of the patien...

Scleromyxoedema is a rare systemic disorder characterized by a lichenoid papular rash. Although scleromyxoedema can involve any organ, very few cases of pulmonary involvement have been reported. Moreover, there are no reports in the literature on treatment of this condition, especially with lung transplantation. The authors report a case of scleromyxoedema in a young man with neurological, skin...

Pulmonary alveolar proteinosis (PAP) is a rare disorder characterized by abnormal accumulation of a lipoproteinaceous material in the alveoli, which may lead to respiratory failure and has an associated high risk for infections. The mainstay treatment for PAP is whole lung lavage. A pregnant woman, previously diagnosed with primary PAP, the most common form of PAP, was admitted with dyspnea and...

Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weaknes...

Kartagener syndrome (KS) is a rare autosomal recessive genetic ciliary disorder characterized by situs inversus, chronic sinusitis, bronchiectasis, and infertility. KS is associated with ultrastructural anomalies of the cilia in epithelial cells covering the upper and lower respiratory tracts and spermatozoa flagella. This case describes a patient with KS with situs inversus and sudden onset br...

Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe cardiac involvement, generalized hypotonia and exitus early in life. Presenting symptoms and signs of the disease may be neglected or underestimated, thus delaying the diagnosis. Respirat...

Autonomic neuropathy affects every system in the body including the eye, cardiovascular, respiratory, and gastrointestinal and neurovascular systems. The diagnosis confers an attenuated life expectancy, but much can be done to alleviate symptoms and to address the underlying disorder.

Pulmonary alveolar microlithiasis is a rare, inherited pulmonary disorder affecting young adults. Diagnosis and monitoring is important as it may progress to pulmonary fibrosis and respiratory failure. No effective treatment has been found to date.