Results In 10 patients an SBDS mutation was identified in both alleles, patient 11 was heterozygous. The mean age at diagnosis was 2.9 years. All patients had exocrine pancreatic insufficiency. Radiological evidence of skeletal dysplasia was present in 9/10 studied. Neutropenia was present in 8/11 patients. Failure to thrive was demonstrated for all but P8. 2/3 patients experiencing cholestatic...

Sir, In recent years, we have seen an increasing use of noninvasive ventilation (NIV) in the context of acute respiratory insufficiency (acute respiratory failure). However, adherence to treatment is not perfect; partly because of patient’s complaints relating to high‐pressure levels. This led to envisaging if the use of lower ventilatory pressures could lead to the same clinical results of the...

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died ...

We report two cases of severe late-onset nosocomial pneumonia caused by Chlamydophila pneumaniae. The clinical course of the disease in these patients suggests that nosocomial pneumonia caused by this agent can lead to profound respiratory insufficiency and acute respiratory distress syndrome, particularly in patients with significant comorbidities and during the postoperative period. Intraveno...

Extracorporeal membrane oxygenation (ECMO) is often the last resort for serious acute respiratory distress syndrome (ARDS) when all non-invasive treatment options have failed to improve the patient's pulmonary condition. We present a successful long-term therapy with ECMO over 110 days in a 28-year-old woman. She developed postpartum cerebral venous thrombosis with severe respiratory insufficie...

We report a case of an otherwise healthy; ambulatory 32 year old parturient on combined antiretroviral therapy that developed prolonged muscle weakness needing postoperative artificial ventilation. Despite no preoperative indication of muscle weakness, she developed respiratory insufficiency following general anesthesia with drugs that are deemed safe for her condition. After ruling out all the...

We present a rare case of congenital cystic adenomatoid malformation (CCAM) type III (mycrocystic) in young, 19 years old primigravida. Diagnosis has been accomplished by ultrasound examination in 26th week of gestation. Hyperechogenic, mycrocystic mass was found in left pulmonary lobe with contra lateral displacement of mediastinum, hypoplasia of the right lung and extensive polyhydramnios. Pr...

A 20-day-old male infant who was born at 39 weeks of gestation was admitted to neonatal intensive care unit due to severe respiratory insufficiency. In retinal examination, peripheric retinal white-black color areas that correspond to necrotizing retinitis, moderate vitritis, macular and optic nerve head involvement, vascular leakage, and sheathing indicating perivasculitis were revealed. Despi...