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Abstract Background The occurrence of cerebral aneurysm in a case of cardiac myxoma is rare with less than 60 cases reported worldwide. The course of management is still debatable given its rarity. We present a case of multiple intracranial aneurysms secondary to atrial myxoma in a young lady with a brief review of the literature. Case presentation A young lady in her late 30s with a history of right middle cerebral artery territory stroke eight years ago presented with gradually progressive symptoms in the form of holocranial headache, inattention and forgetfulness for the last few years. On neuroimaging, she was found to have multi-territorial lacunar infarcts and multiple intracranial artery aneurysms which was confirmed with a digital subtraction angiogram. A cardiac evaluation revealed a left atrial myxoma. The aetiology of subcortical cognitive decline and intracranial aneurysms was attributed to the myxoma with secondary myxomatous embolism. Other secondary causes were ruled out. She is being followed up medically after resection of the myxoma. Conclusion Intracranial aneurysms are rare complications of cardiac myxoma which may present before, concurrent or many years after diagnosis of the myxoma. Nonspecific neurological complaints occasionally are the ominous signs of intracranial aneurysms which mandate a low threshold for neuroimaging in a case of cardiac myxoma. Given the absence of definitive risk factors and unclear natural history, clinical and radiological follow-ups are critical. Learning Points Intracranial aneurysms are rare complications of cardiac myxoma that may present before, concurrent or many years after diagnosis of the myxoma. Special attention must be given to nonspecific neurological complaints with a low threshold for neuroimaging in those with a prior history of cardiac myxoma. Given the absence of definitive risk factors and unclear natural history, clinical and radiological follow-up including conventional angiography and/or magnetic resonance imaging is critical.

Anatomical configurations where the viscero-atrial structures do not follow the usual arrangement or mirror-imaged arrangement is described conventionally as heterotaxy. Isomerism in the context of the congenitally malformed heart is a situation where some paired structures on opposite sides of the left–right axis of the body are, in morphologic terms, symmetrical mirror images of each other. It encompasses two separate entities, right and left isomerism, the former being usually associated with asplenia and the latter with polysplenia. We report herein a rare case of left isomerism that is associated with asplenia in a 4-year-old girl.

Abstract Background MR plaque imaging is a valuable tool in characterizing carotid atherosclerotic plaque and identifying high-risk features. There are limited data on the role of the widely available single-shot diffusion-weighted imaging (DWI) in plaque characterization along with histological correlation. This study aimed to correlate the plaque characteristics identified by MR imaging in vivo at the level of maximum stenosis with histological plaque characteristics in the postoperative specimen. Methods Patients who underwent carotid endarterectomy in a tertiary care center during one and half years were prospectively recruited for non-contrast MR carotid plaque imaging (including single-shot EPI-DWI sequence) in a 3 Tesla MRI using a dedicated carotid coil. An experienced radiologist correlated DWI sequence findings with histopathology of postsurgical sections to confirm the high-risk features. Results Twenty-three patients (mean age 66.1 years ± SD 6.25) were evaluated, of which 65% were males and 96% were symptomatic. Apparent diffusion coefficient (ADC) values in location of plaques could differentiate histopathological unstable from stable plaques (0.83 × 10–3 mm2/s vs 1.7 × 10–3 mm2/s; p 0.001), with a sensitivity and specificity of 75% and 79%, respectively, at an ADC cutoff of 1.24 × 10–3 mm2/s. Plaques with and without lipid-rich necrotic core (0.86 × 10–3 mm2/s vs 1.44 × 10–3 mm2/s; p = 0.042) as well as intraplaque hemorrhage could be differentiated (0.751 × 10–3 mm2/s vs 1.352 × 10–3 mm2/s; p 0.037) using the apparent diffusion coefficients. Conclusion The widely available single-shot EPI-DWI in assessing plaque characteristics in carotid stenosis is promising and correlated with histopathological features. Diffusion-weighted imaging will be a helpful adjunct in patients when contrast administration is intolerable.

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Childhood and adult-onset muscular dystrophies include dystrophinopathies, limb-girdle muscular dystrophies, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Traditionally, muscle biopsy and histopathology along with special pathology techniques such as immunohistochemistry or immunoblotting were used for the diagnosis of muscular dystrophies. However, recent advances in molecular genetic testing, especially the next-generation sequencing technology, have revolutionized the diagnosis of muscular dystrophies. Identification of the underlying genetic basis helps in appropriate management and prognostication of the affected individual and genetic counseling of the family. In addition, identification of the exact disease-causing mutations is necessary for accurate prenatal genetic testing and carrier testing, to prevent recurrence in the family. Mutation identification is also essential for initiating mutation-specific therapies (which have been developed recently, especially for Duchenne muscular dystrophy) and for enrolment of patients into ongoing therapeutic clinical trials. The 'genetic testing first' approach has now become the norm in most centers. Nonetheless, muscle biopsy-based testing still has an important role to play, especially for cases where genetic testing is negative or inconclusive for the etiology.

Over the last three decades, skin punch biopsy has become the gold standard for diagnosis of small fiber neuropathies, including autonomic neuropathies commonly seen in diabetics, patients with HIV, and children with hereditary sensory autonomic neuropathies and toxin-induced neuropathy. Clinical, biochemical, electrophysiological tests are inconclusive, making it difficult to diagnose and initiate treatment. A skin punch biopsy is easy to perform in the outpatient clinic, is highly sensitive, and provides an objective diagnosis. Importantly, it helps avoid performing invasive nerve biopsy in patients with small fiber neuropathy, thereby preventing complications such as non-healing of the biopsy site, which is common in these patients. Secondly, the greatest advantage of skin punch biopsies is that they can be repeated any number of times, unlike a nerve biopsy, and are useful to evaluate disease progression and therapeutic response. More recently, its use has been expanded to the diagnosis of large fiber neuropathies, inherited demyelinating neuropathies, etc., obviating the need for a nerve biopsy. The European Federation of Neurological Societies has published guidelines for evaluation to ensure uniformity with regard to the site of biopsy, processing, and quantification. The evaluation of the skin biopsy involves morphometric assessment of the intraepidermal nerve fiber density using PGP 9.5 immunostained sections by bright-field microscopy. This review focuses on the practical aspects of skin punch biopsy and its utility for the practicing pathologist.

Abstract Background In uveal melanomas, immune infiltration is a marker of poor prognosis. This work intended to decipher the biological characteristics of intra‐tumor immune population, compare it to other established biomarkers and to patients' outcome. Methods Primary, untreated, and mainly large uveal melanomas with retinal detachment were analyzed using: transcriptomic profiling (n = 15), RT‐qPCR (n = 36), immunohistochemistry (n = 89), Multiplex Ligation‐dependent Probe Amplification (MLPA) for copy number alterations (CNA) analysis (n = 89), array‐CGH (n = 17), and survival statistics (n = 86). Results Gene expression analysis divided uveal melanomas into two groups, according to the IFNγ/STAT1‐IRF1 pathway activation. Tumors with IFNγ‐signature had poorer prognosis and showed increased infiltration of CD8+ T lymphocytes and macrophages. Cox multivariate analyses of immune cell infiltration with MLPA data delineated better prognostic value for three prognostic groups (three‐tier stratification) than two (two‐tier stratification). CNA‐based model comprising monosomy 3, 8q amplification, and LZTS1and NBL1 deletions emerged as the best predictor for disease‐free survival. It outperformed immune cell infiltration in receiver operating characteristic curves. The model that combined CNA and immune infiltration defined risk‐groups according to the number of DNA alterations. Immune cell infiltration was increased in the high‐risk group (73.7%), where it did not correlate with patient survival, while it was associated with poorer outcome in the intermediate risk‐group. Conclusions High degree of immune cell infiltration occurs in a subset of uveal melanomas, is interferon‐gamma‐related, and associated with poor survival. It allows for two‐tier stratification, which is prognostically less efficient than a three‐tier one. The best prognostic stratification is by CNA model with three risk‐groups where immune cell infiltration impacts only some subgroups.