A delayed diagnosis: recurrent fever and beta thalassaemia

Abstract

Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.

Cerebral epidural empyema due to Bartonella henselae: a case report

“…Peripheral neuropathy and acute hemiplegia have also been described during CSD. Diagnosis of CSD-associated encephalopathy may be challenging as normal MRI have been described despite the existence of neurological deficits [ 6 ]. Other manifestations include status epilepticus [ 7 ], cerebral vasculitis, with secondary cerebral infarction and necrosis [ 8 ], or brainstem encephalopathy with basal ganglia impairment [ 9 ].…”