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1.
J Med Case Rep ; 11(1): 355, 2017 Dec 22.
Article in English | MEDLINE | ID: mdl-29268777

ABSTRACT

BACKGROUND: Breast metastases from extramammary tumors are extremely rare, the most common primary tumors being contralateral breast carcinoma, followed by lung, gynecological, gastrointestinal, melanoma, and hematological cancers. Only a few cases deriving from head and neck squamous cell carcinoma have been reported in the literature to date. CASE PRESENTATION: We report a case of a 47-year-old Caucasian woman who presented to our hospital with a solitary breast lesion in the right upper external quadrant associated with multiple bone and visceral metastases. Two years before, she had undergone radical resection of a squamous cell carcinoma of the oropharynx (stage pT2, pN1), which was followed by adjuvant radiotherapy. Breast ultrasound showed a hypoechogenic tumor lesion of 4 cm in the right upper external quadrant that was associated with multiple axillary and infra-/supraclavicular adenopathies. A positron emission tomographic scan documented multiple visceral and bone metastases with a single hypermetabolic lesion of the right breast. The results of histology and immunohistochemistry were consistent with a metastasis from a squamous cell carcinoma. The patient died of acute respiratory insufficiency 1 month after her breast metastasis diagnosis and before starting any systemic antitumoral treatment. CONCLUSIONS: Although breast metastases are extremely rare, they should be considered in any patient with a history of cancer and confirmed by histology and immunohistochemistry because they are very difficult to distinguish from other primary breast tumors based only on clinical and radiological features. There are no standardized treatment guidelines for breast metastasis management. Surgery and radiotherapy can play a role in symptom palliation, but they do not have any relevant impact on survival, the prognosis being poor, with an estimated overall survival less than 1 year from diagnosis.


Subject(s)
Breast Neoplasms/secondary , Carcinoma, Squamous Cell/secondary , Oropharyngeal Neoplasms/pathology , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/secondary , Breast Neoplasms/diagnostic imaging , Carcinoma, Squamous Cell/diagnostic imaging , Female , Humans , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/secondary , Lymph Nodes/diagnostic imaging , Lymphatic Metastasis , Middle Aged , Peritoneal Neoplasms/diagnostic imaging , Peritoneal Neoplasms/secondary , Positron-Emission Tomography , Splenic Neoplasms/diagnostic imaging , Splenic Neoplasms/secondary , Tomography, X-Ray Computed , Whole Body Imaging
2.
Muscle Nerve ; 43(3): 444-6, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21321959

ABSTRACT

INTRODUCTION: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), also called glutaric aciduria type II, is an inherited metabolic disorder resulting from a deficiency in electron transfer flavoprotein (ETF) or of its ubiquinone oxidoreductase (ETF-QO). It usually occurs in the neonatal period or in early infancy and, very rarely, in adolescents and young adult patients. METHODS: We report the case of a 55-year-old woman who developed a painful subacute myopathy. RESULTS: Lipid accumulation was found at biopsy. MADD was confirmed by plasma acylcarnitine profile and by assessment of ETF-QO activity in muscle. CONCLUSIONS: This study demonstrates that metabolic myopathies usually found in infancy may be also diagnosed in older patients. MADD may be easily treated by riboflavin and coenzyme Q10 and therefore should be included in the differential diagnosis of adult-onset painful myopathy.


Subject(s)
Multiple Acyl Coenzyme A Dehydrogenase Deficiency/complications , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/diagnosis , Muscular Diseases/diagnosis , Muscular Diseases/etiology , Age Factors , Diagnosis, Differential , Female , Humans , Middle Aged
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