Systemic infection following intravesical therapy with BCG.

Immunotherapy with BCG is an effective and widely used treatment for non-muscle-invasive bladder cancer. BCG sepsis is a rare but life-threatening and frequently not a straightforward complication of this treatment; in cases with a high index of suspicion, anti-bacillary treatment should not wait for laboratory confirmation and be instituted immediately. We report a severe case of BCG sepsis, in which timely diagnosis and initiation of antituberculosis agents enabled a full recovery.

Artery of Percheron infarct: a diagnostic challenge.

The artery of Percheron is a rare anatomical variation that supplies thalamus and the midbrain. A stroke in this area is a rare event. The presentation varies widely, with some bizarre disturbances, like transient episodic loss of consciousness similar to coma, somnolence, cognition and memory impairment and psychosis. We report a case of a patient who presented at the emergency department with a sudden change of consciousness. During the observation, she oscillated reactive state of consciousness with obnubilation similar to coma. The first exams were normal, which include a cranial CT of the brain, and so the patient was kept under observation. The final diagnosis was only possible 24 hours later with cranial CT where an ischaemic lesion on the Percheron territory was identified. This case highlights an unusual clinic and a difficult neuroimaging stroke diagnosis of a rare condition, that is unknown to most of the physicians.

Titinopathy, an atypical respiratory failure.

Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prognosis is unknown. Herein we present a case of a 40-year-old woman with long-standing asthenia and apathy and, more recently, daytime sleepiness, dyspnoea and difficulty in walking. A hypercapnic respiratory failure with severe acidemia was identified. The muscle biopsy showed the presence of cytoplasmatic bodies and rimmed vacuoles, suggestive of a hereditary myopathy with early respiratory failure disease. The genetic study confirmed this diagnosis identifying a heterozygous mutation on c.95134T>C (p.Cys31712Arg) in exon 343 in the titin gene. The patient was discharged home under supportive treatment with non-invasive ventilation.