We report on two cases where breast magnetic resonance imaging examination changed clinical management. Breast magnetic resonance imaging is now recognised as an indispensable adjunctive examination to mammography and ultrasound. In each of the two cases described, breast magnetic resonance imaging revealed unsuspected, extensive, and mammographically and ultrasonologically occult, ductal carcinoma in situ. In each of these cases, planned breast conserving surgery was changed to mastectomy. The success of breast conservation treatment depends on removal of all tumour with clear margins at the time of surgery. Magnetic resonance imaging is now considered the most sensitive method for evaluating the extent of breast cancer. Breast magnetic resonance imaging has a very high sensitivity for invasive carcinoma (near 100%), and recent studies show its specificity in high-risk patients is between 93 and 99%. Magnetic resonance imaging may well be proven an important adjunctive examination in patients who have dense breasts or extensive fibrocystic change.

Arteriovenous malformations are rare in the head and neck region and generally arise from intracranial vessels. We present two rare cases with spontaneous arteriovenous malformations related to the ear. The role of magnetic resonance imaging and colour Doppler sonography in the diagnosis and management of such cases is discussed along with a review of the literature.

Small bowel metastases from a primary lung carcinoma are rare. We report a case of a 59-year-old male with a primary small-cell lung carcinoma who developed anaemia and bowel symptoms. On colonoscopic examination he was found to have a tumour in the caecum near the ileocaecal valve, which was biopsied, revealing small neuroendocrine tumour cells. The patient then underwent systemic chemotherapy, which achieved a reduction in the size of the primary lung tumour and an improvement in his bowel symptoms. It is important that such a rare condition be recognised early as complicated intestinal metastases from a lung carcinoma can lead to high mortality rates and poor short-term outcome. With advances in chemotherapy and palliative care, patients with metastatic lung carcinoma can sometimes survive more than a year with reasonable quality of life.

Endoscopic retrograde cholangiopancreatography has been part of clinical practice for over 35 years. The procedure itself carries risks. Most complications associated with the procedure have been described in the literature. Splenic injury is an extremely rare complication after endoscopic retrograde cholangiopancreatography and only nine such cases have been reported to our knowledge since 1988. We report on a patient who presented with abdominal pain and was found to have abnormal liver function and a dilated pancreatic duct. An endoscopic retrograde cholangiopancreatography was performed and a splenic laceration was noted subsequently. As this operation is an increasingly important diagnostic and therapeutic modality for pancreatico-biliary disease, clinicians must be aware of this complication in order to make an early diagnosis and begin appropriate management.

Pantothenate kinase–associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis, the authors identified a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase–associated neurodegeneration. DNA-based diagnosis of pantothenate kinase–associated neurodegeneration plays a key role in determination, and can make the diagnosis more simply, directly, and economically because it obviates the need for unnecessary biochemical tests. Once pantothenate kinase–associated neurodegeneration–like symptoms are identified, mutation analysis and target screening for the family of the proband can provide efficient and accurate evidence of pantothenate kinase–associated neurodegeneration inheritance.