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Cardiac valve fibrolipomas are extremely rare. We report a case of a 38-year-old female initially presenting with palpitations and moderate aortic incompetence who was found to have a lipomatous growth of the aortic valve. She underwent aortic valve repair with good postoperative results. Histopathogy verified the lesion as a fibrolipoma. This is the first reported case of fibrolipoma in the aortic valve, whilst aiming to consider repair as a surgical option in young patients with such growths.

Tubular aggregates and cylindrical spirals are 2 distinct ultrastructural abnormalities observed in muscle biopsies that have similar histochemical staining characteristics on light microscopy. Both are found in a wide range of disorders. Recently, a number of genetic mutations have been reported in conditions with tubular aggregates in skeletal muscle. It is widely accepted that tubular aggregates arise from the sarcoplasmic reticulum, but the origin of cylindrical spirals has been less clearly defined. We describe the histopathological features of myopathies with tubular aggregates, including a detailed immunohistochemical analysis of congenital myasthenic syndromes with tubular aggregates due to mutations in GFPT1 and DPAGT1, and myopathies with cylindrical spirals. Our findings support the notion that cylindrical spirals, like tubular aggregates, derive primarily from the sarcoplasmic reticulum; however, immunohistochemistry indicates that different molecular components of the sarcoplasmic reticulum may be involved and can be used to distinguish between these different inclusions. The immunohistochemical differences may also help to guide genetic testing.

Inclusion body myositis (IBM) is the commonest acquired myopathy in individuals aged over 50 years. The first description of a patient with IBM was published in 1967. Despite much research into the illness, our understanding is far from complete and IBM remains an enigmatic and often misdiagnosed condition for which there is currently no effective drug treatment. However, new pathological findings, the recent identification of muscle-specific serum auto-antibodies and the increasing use of MRI in patients with IBM are important advances that may lead to earlier diagnosis and improved understanding of the disease. The purpose of this review is to provide an update on the scientific developments in IBM with particular emphasis on current and future clinical trials.

Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise. Neuropathy has been documented neurophysiologically in previously reported cases of BAG3-associated myofibrillar myopathy and in some cases giant axons were observed on nerve biopsies; however, neuropathy was not thought to be a dominant feature of the disease. In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease. Here, we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy. Muscle magnetic resonance imaging (MRI) in one patient revealed mild to moderate atrophy without prominent selectivity. Examination of sural nerve biopsies in two patients demonstrated giant axons. This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature.

Endometriosis is a common condition in women of reproductive age and has a known propensity to involve abdominal wall scars. The authors report 2 cases of endometriosis presenting as mass lesions involving the abdominal wall at the site of insertion of ventriculoperitoneal and lumboperitoneal shunts. In both cases, there was clinical evidence of shunt compromise. Endometriosis involving the site of shunt insertion is an extremely rare phenomenon with, as far as the authors are aware, only a single previously reported case. However, it should be considered in the differential diagnosis when a mass develops at a shunt site in a woman of reproductive age.