A Rare Case of Myoid Hamartoma Masquerading As Invasive Breast Carcinoma

Breast Myoid Hamartoma (MH) is a rare type of neoplasm with a poorly understood pathogenesis. Very few literatures have reported such disease with an unclear prognosis and malignant potentiality. Some isolated studies have shown that breast Myoid Hamartoma (MH) may be genetically related to other types of tumours with the involvement of HMGA2 gene. We reported a case of a 64-year-old post-menopausal lady with an underlying chronic idiopathic axonal polyneuropathy (CIAP) that was referred to our centre for a suspected right breast tumour. Clinical and imaging proved the disease to be malignant, however, core biopsy results showed otherwise. Ultrasound of the right breast showed a solid mass with a hypoechoic heterogeneous echotexture and posterior shadowing. A Mammogram highlighted a dense lesion in the right breast with radiolucent halo and macrocalcification. It was reported as BIRADS 4 category. Managing breast Myoid Hamartoma (MH) is proved to be of great challenge to clinicians as meticulous clinical acumen is needed to strategize a proper plan and management, most importantly, not to overlook the disease as the malignant transformation has been reported before.

Acrodystrophic axonal polyneuropathy with celiac disease: a case report

Background Patients with celiac disease present with not only gastrointestinal symptoms but also extraintestinal manifestations such as anemia, osteopathy, dermatitis herpetiformis, and celiac neuropathy. Despite a fairly wide range of celiac neuropathies, we report a case of the acrodystrophic variant of celiac polyneuropathy, which has not been previously described. Case presentation A 41-year-old Ukrainian male suffered from symmetric, sensorimotor axonal polyneuropathy and encephalopathy associated with celiac disease, which is characterized by severe trophic disorders in the lower extremities (trophic ulcers, hyperkeratosis, and anhidrosis). Acrodystrophic changes in the lower extremities were due to both neurogenic and direct immunoinflammatory damaging effects. Clinical–electrophysiological dissociation was also noted, which was represented by a gross axonal lesion with the preservation of muscle strength. The absence of enteropathic manifestations was accompanied by the pronounced histological changes in the duodenal mucosa by IIIb stage of Marsh. A gluten-free diet in combination with membrane plasma exchange and intravenous pulse methylprednisolone was prescribed to reduce the severity of sensory disorders and regression of encephalopathy within 7 months. Conclusion Celiac disease may be a potential cause of neuropathy and encephalopathy in adult patients. Further immunosuppressive treatment protocols for both intestinal and extraintestinal manifestations of celiac disease are required.

Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis

Axonal polyneuropathy is the main feature of hereditary transthyretin amyloidosis (ATTRv). Nerve morphological abnormalities have been reported, but longitudinal changes have never been assessed. We performed a prospective widespread nerve ultrasound evaluation and nerve cross-sectional area (CSA) was compared with baseline data in both ATTRv patients and pre-symptomatic carriers. Thirty-eight subjects were evaluated (mean follow-up 17.1 months), among them 21 had polyneuropathy while 17 were pre-symptomatic carriers. CSA significantly increased at brachial plexus in both groups (p = 0.008 and p = 0.012) pointing to progressive brachial plexus enlargement as a longitudinal biomarker of both disease progression and disease occurrence in pre-symptomatic carriers.