Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor.

We describe a 42-year-old British man of Indo-Caribbean origin with immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome. Most patients with ICF syndrome die of infection at a young age, usually in the first or second decade of life. The patient was born 3.5 weeks premature to non-consanguineous parents. He had a mild bird-like face abnormality, but had no other congenital malformations, cognitive impairment or developmental delays. He had recurrent ear and chest infections during childhood and developed bronchiectasis. Investigations revealed IgG, IgA and IgM deficiencies with a normal lymphocyte count and normal T cell proliferation to in vitro mitogenic stimulation. Following several unsuccessful attempts to make a diagnosis during childhood, a recent chromosomal analysis showed centromeric region instability of chromosomes 1 and 16, diagnosing ICF syndrome. The patient receives immunoglobulin replacement for hypogammaglobulinameia and has chest physiotherapy and antibiotics for bronchiectasis. Recently, he developed liver cirrhosis of unknown cause.

Acute adrenal failure following anticoagulation with dabigatran after hip replacement and thrombolysis for massive pulmonary embolism.

A 75-year-old woman presented 9 days post-total hip replacement with sudden onset of shortness of breath and fever. She had been discharged taking dabigatran. The patient was treated for sepsis with antibiotics and fluids. However, she deteriorated and was transferred to the intensive care unit. Following a 10 s asystolic episode the patient was thrombolysed with alteplase for presumed massive pulmonary embolism. Initially, her blood pressure and oxygen saturation improved. However, over the next few days, she remained persistently hypotensive. A CT scan of her chest, abdomen and pelvis demonstrated bilateral adrenal haemorrhages. A short synacthen test confirmed acute adrenal failure.

Williams-Campbell syndrome presenting in an adult.

A 59-year-old man presented with a 4-year history of productive cough, shortness of breath and wheeze. He had been treated for asthma and given several courses of antibiotics which improved his symptoms. Medical history was unremarkable. There was no history respiratory disease in childhood although he was prone to chest infections in adult life. A high-resolution chest CT showed marked proximal cystic bronchiectasis associated with collapse of distal bronchi on expiration. A diagnosis of cystic bronchiectasis due to undiagnosed adult Williams-Campbell syndrome was made on the basis of these characteristic radiological features and the exclusion of other possible causes.