Cases reported "Choristoma"

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1/17. A case of osteopetrosis with pelvic ectopic spleen: an unusual association.

    A three-month-old girl was admitted to the hospital with a history of pallor. On physical examination, the liver was enlarged and a solid mass was palpated in the left abdomen. Laboratory evaluation revealed anemia and thrombocytopenia. bone marrow was hypocellular with reduced number of megakaryocytes. Radiographic findings and scintigraphic study of the long bones were consistant with osteopetrosis. In the imaging studies, including ultrasonography, computerized tomography, magnetic resonance imaging and scintigraphic study, an ectopic spleen expanded into the bony pelvis was observed. We report here unique case of infantile osteopetrosis associated with pelvic ectopic spleen.
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2/17. Bilateral subpleural ectopic brain tissue in a 23-week-old fetus.

    Bilateral lesions were seen in the subpleural region in a 23-week-old aborted male fetus. This fetus was not macerated and showed no central nervous system abnormality on physical examination and vertebral magnetic resonance imaging (MRI). Postmortem examination revealed bilateral, paravertebral, subpleural, circumscribed, yellowish-white, fluent lesions 2.5 x 1 x 1 cm in size. These lesions were localized on the upper part of both lungs and there was no other internal malformation. Histological examination of lesions showed adult neurones and well-differentiated neural tissue with white and gray matter, choroid plexus, ependymal structures and, rarely, some peripheral neural cells in addition to immature neuroectodermal cells. These cells were more mature than those in the brain tissue.
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3/17. Axillary breast tissue mistaken for suppurative hidradenitis: an avoidable error.

    The differential diagnosis for a solitary axillary mass is extensive. Based on the initial history and physical examination of the patient presented in this case report, the diagnosis of suppurative hidradenitis was incorrectly reached. This subjected her to a surgical procedure that was not indicated for the actual diagnosis of ectopic axillary breast tissue. This article reviews the workup for a solitary axillary mass and discusses multiple aspects of ectopic breast tissue.
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4/17. Dual ectopic thyroid: report of a case.

    Dual ectopic thyroid is very rare. We report a case of dual ectopic thyroid in the lingual and infrahyoid areas in a 20-year-old female patient with no thyroid gland in its normal anatomical location. On physical examination, there was a 7 x 5 cm anterior midline neck swelling just below the hyoid bone and a 2 x 2 cm mass in the base of the tongue. triiodothyronine (T(3)), thyroxine (T(4)), and thyroid-stimulating hormone (TSH) levels were normal. A thyroid scan with technetium-99m sodium pertechnate confirmed dual ectopic thyroid with no iodine uptake in the normal anatomical location of the thyroid gland. The infrahyoid ectopic thyroid was surgically removed for cosmetic reasons, and the lingual thyroid, which was symptomatic, was left untouched. The importance of thyroid scanning in the evaluation of anterior midline neck swellings and treatment options are discussed.
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5/17. Cervical presentations of thymic anomalies in children.

    OBJECTIVE: To better define the clinical manifestations, radiologic imaging and the surgical management of cervical thymic lesions in children. STUDY DESIGN: Multi-center retrospective case review. methods: The charts of all children with pathologically confirmed thymic lesions at six children's hospitals (1990-2002) were reviewed for demographics, physical findings, X-ray findings, operative outcomes and pathology. RESULTS: There were a total of 15 children, 2 of whom had ectopic cervical thymus and 13 who had thymic cysts. They ranged in age from 1 month to 18 years. Thymic lesions were more common in males. Ectopic cervical thymus was best defined by MRI whereas thymic cyst had a more consistent appearance on CT. All children had successful surgical resection with no recorded complications or recurrences. CONCLUSIONS: Cervical thymic lesions are rare. Ectopic cervical thymus tends to be found primarily in infants whereas thymic cysts occur in a wider age range. Radiologic imaging is important but is not histologically specific. Definitive diagnosis and cure requires complete surgical excision.
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6/17. Clinics in diagnostic imaging (101): Multinodular accessory thyroid tissue.

    A 71-year-old woman with a strong family history of thyroid cancer presented with 3 months of constipation. A carcinoid tumour of the rectum was found at colonoscopy. On physical examination, she had a large goitre and there was a 3-4 cm firm submental mass. The differential diagnosis was accessory thyroid tissue or a carcinoma metastasis. Staging computed tomography was performed to include the neck, followed by ultrasonography and aspiration biopsy of the submental mass, which confirmed the diagnosis of multinodular accessory thyroid tissue. Differences in aetiology and pathophysiology of accessory thyroid tissue and ectopic thyroid glands are discussed.
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7/17. ehlers-danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

    BACKGROUND: The ehlers-danlos syndrome (EDS) comprises a group of hereditary connective tissue disorders. periventricular nodular heterotopia (PNH) is a human neuronal migration disorder characterised by seizures and conglomerates of neural cells around the lateral ventricles of the brain, caused by FLNA mutations. FLNA encodes filamin A, an actin binding protein involved in cytoskeletal organisation. The amino-terminal actin binding domain (ABD) of filamins contains two tandem calponin homology domains, CHD1 and CHD2. OBJECTIVE: To report clinical and genetic analyses in a Spanish family affected by a connective tissue disorder suggestive of EDS type III and PNH. methods: A clinical and molecular study was undertaken in the three affected women. Clinical histories, physical and neurological examinations, brain magnetic resonance imaging studies, and skin biopsies were done. Genetic analysis of the FLNA gene was undertaken by direct sequencing and restriction fragment length polymorphism analysis. RESULTS: mutation analysis of the FLNA gene resulted in the identification of a novel mutation in exon 3 (c.383C-->T) segregating with the combination of both syndromes. This mutation results in a substitution of an alanine residue (A128V) in CHD1. CONCLUSIONS: The findings suggest that the Ala128Val mutation causes the dual EDS-PNH phenotype. This association constitutes a new variant within the EDS spectrum. This is the first description of a familial EDS-PNH association with a mutation in FLNA.
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8/17. fibroadenoma in axillary supernumerary breast: case report.

    CONTEXT: Supernumerary breast tissue may be affected by the same diseases and alterations that compromise topical breast tissue. Nevertheless, reports of fibroadenoma in supernumerary breast tissue in the axillae are rare. OBJECTIVE: To describe a case of fibroadenoma in an axillary supernumerary breast. DESIGN: Case report. CASE REPORT: A 39-year-old woman was referred to the gynecology and obstetrics outpatient clinic at Hospital Estadual Sumare, complaining of bilateral axillary masses. The patient reported cosmetic problems and local pain and discomfort. On physical examination, alterations compatible with bilateral axillary accessory breasts, without palpable nodules, were observed. Supplementary examinations (mammography and ultrasonography) revealed a 1.1 cm mass in the right axillary breast. The patient underwent resection of the supernumerary breasts and histopathological examination revealed fibroadenoma of the right axillary breast tissue.
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9/17. Complete pancreatic heterotopia of gallbladder with hypertrophic duct simulating an adenomyoma.

    The gallbladder is an unusual location of pancreatic heterotopia, defined as the presence of pancreatic tissue lacking anatomical and vascular continuity with the main body of the gland. A 28-year-old man presented with anorexia, nausea and pain in the right upper abdomen. On physical examination, the abdomen was tender to palpation and Murphy sign was positive. The patient underwent a cholecystecomy. This case, in our opinion, is very interesting since it permits to consider a controversial issue in the pathology of the gallbladder. The histological appearance of ductal structure in pancreatic heterotopia resembles the histological picture of both Aschoff-Rokitansky (AR) sinuses and adenomyomas. This finding suggests that these lesions are linked by a common histogenetic origin. We suggest that the finding of an adenomyoma in the gallbladder should prompt an extensive sampling of the organ in order to verify the coexistence of pancreatic rests.
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10/17. Ectopic intratracheal thyroid presenting as bronchial asthma.

    Benign ectopic thyroid tissue within the trachea is a rare cause of upper airway obstruction. Nevertheless, it may present considerable difficulties in diagnosis and management, and can be mistaken for bronchial asthma. Thorough history taking and careful physical examination in patients assumed to be asthmatics but not responding to bronchodilator therapy may be the key to establishing diagnosis of diseases simulating asthma. The following case report illustrates this point and emphasizes the fact that not all wheezes are asthma.
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