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PubMed2006

[A diagnostic pitfall: papillary adenocarcinoma arising in ectopic thyroid tissue within a branchial cyst].

A case of thyroid papillary carcinoma arising in ectopic thyroid tissue within a branchial cleft cyst is described. Complete dissection of the thyroid gland was necessary to rule out the differential diagnosis of primary thyroid carcinoma. The thyroglossal duct tract is an unusual localization for thyroid carcinomas in ectopic thyroid tissue. Thyroid carcinoma arising in ectopic thyroid tissue within a branchial cyst is extremely rare. Complete thyroidectomy may be necessary to eliminate an occult thyroid carcinoma.

Adenocarcinoma↗
PubMed2000

Simultaneously occurring liver metastases of pheochromocytoma and medullary thyroid carcinoma--a diagnostic pitfall with clinical implications for patients with multiple endocrine neoplasia type 2a.

Malignant pheochromocytoma is an exceptional complication in patients with Multiple Endocrine Neoplasia Type 2a (MEN2a). In this paper, we report on a 53-year-old male patient with an evident RET gene germline mutation, who simultaneously developed hepatic metastases of medullary thyroid carcinoma (MTC) and pheochromocytoma. Comprehensive immunohistochemical investigations were performed to elaborate markers which could be useful for differentiating between MTC metastases and pheochromocytoma, respectively. Calcitonin and CEA, in particular cytokeratins and trefoil factor family 1 (TFF1), were detectable exclusively in MTC, whereas all the other markers revealed a comparable expression in both MTC and pheochromocytoma. The only clues that could indicate a potential malignant course were size, a lack of sustentacular cells and hyaline globules, and a focal spindle cell pattern in pheochromocytoma. Owing to a wide agreement in cellular differentiation and a lack of specific, routinely applicable markers for pheochromocytomas, a comprehensive and goal-directed immunohistochemistry is required to rule out pheochromocytoma metastasis in patients with MEN2a. A misinterpretation could lead to harmful clinical complications, as shown in the present case.

Adrenal Gland Neoplasms↗
PubMed1987

Diagnostic pitfalls in solid childhood tumors.

Differential diagnosis of round and spindle cell type tumors in childhood is difficult. Diagnosis can be facilitated by additional immunohistochemical analysis (case 1) or detection of characteristic histological patterns (case 2). Rapid growth is not an exclusive feature of malignant tumors, but can also be observed in benign tumors and tumor-like conditions of young patients (case 3).

Adolescent↗
PubMed2000

Lyme borreliosis mimicking central nervous system malignancy: the diagnostic pitfall of cerebrospinal fluid cytology.

We report two children with acute loss of neurological functions and signs of an increased intracranial pressure. Imaging techniques ruled out space occupying lesions, whereas CSF cytology indicated CNS involvement of a non-Hodgkin lymphoma in the form of abnormal lymphocytic pleocytosis with malignancy criteria fulfilling lymphoid cells. CSF protein electrophoresis and Borrelia burgdorferi serology revealed neuroborreliosis which was successfully treated with antibiotic therapy. The malignancy mimicking cytology is based on a blastoid transformation of B- and T-lymphocytes due to the antigenic stimulus of B. burgdorferi infection. Lymphoid cells in the CSF of a patient with acute or chronic neurological symptoms raise the differential diagnosis of inflammatory etiology versus CNS lymphoma. Monomorphism and higher quantity of the lymphoid cells point to CNS lymphoma. A lower quantity and polyclonal pattern of lymphoid cells associated with an elevated protein fraction caused by intrathecal immunoglobulin synthesis suggest an inflammatory etiology.

Adolescent↗
PubMed2000

Vertex epidural hematomas: imaging findings and diagnostic pitfalls.

PURPOSE: Our purpose was to show the computed tomography (CT) and magnetic resonance (MR) imaging features of vertex epidural hematomas (EDHs) and emphasize pitfalls in the diagnosis of this entity. SUBJECTS AND METHODS: The neuroradiologic studies of four patients (CT in four, MR imaging and MR venography in one) were evaluated for EDH shape, size and appearance. RESULTS: EDHs were biconvex in three patients and crescentic in one patient. CT appearances included a collection that was hyperdense (two patients), generally isodense with a few regions of hyperdensity (one patient) and mixed hyperdense and hypodense (one patient). MR imaging findings in one patient consisted of hyperintense signal on T1-weighted images and hypointense signal on T2-weighted images. Inferior displacement of the superior sagittal sinus was seen in two patients. Diagnosis of a small vertex EDH was difficult on routine axial CT in one patient, but apparent on MR imaging and MR venography. CONCLUSIONS: Small vertex EDHs can be difficult to diagnose on routine CT. MR imaging or thin section CT should be performed to exclude the diagnosis in patients with trauma to the skull vertex.

Adult↗
PubMed2002

Medial meniscocapsular separation: MR imaging criteria and diagnostic pitfalls.

Various magnetic resonance imaging (MRI) signs can be used in the diagnosis of medial meniscocapsular separation. A thorough knowledge of the normal anatomy of the medial meniscocapsular junction is essential to understand these signs. MRI signs used in the diagnosis of meniscocapsular separation include meniscal displacement relative to the tibia, meniscal corner tear, perimeniscal fluid, irregular meniscal outline, meniscofemoral and meniscotibial extension tears, and interposition of contrast medium between the meniscus and the MCL. Potential causes of false positive diagnosis of meniscocapsular separation include MCL bursitis, meniscal cyst, MCL tear, joint effusion, and perimeniscal fat.

Humans↗
PubMedDate not supplied

Congenital long-QT syndrome: a case report illustrating diagnostic pitfalls.

This article reviews the clinical course of a 10-year-old child with a lifelong history of seizures and congenital deafness who presented after an episode of sudden cardiac arrest secondary to long-QT syndrome-induced torsade de pointes. Jervell-Lange-Nielsen syndrome is a rare cardioauditory syndrome in which affected subjects are susceptible to recurrent syncope and sudden death from ventricular dysrhythmias, usually before the second decade of life. Careful evaluation of suspected subjects is important because of the variability of the QTc interval. Recent research has identified specific gene sequences that encode ion channels responsible for both prolonged QTc interval and deafness. Treatment of symptomatic cardiac disease with beta-blockers in combination with pacemakers and automated internal cardioverter defibrillators can markedly improve quality of life and suppress ventricular dysrhythmias even in the most severely affected subjects. The recent identification of gene sequences identifying some congenital long-QT syndromes may improve screening methods for affected patients and lead to potential therapeutic intervention.

Child↗
PubMed1999

[Latex allergy: diagnostic pitfalls].

A 44-year-old woman, native of Martinique, with a history of multiple allergies and severe asthma, sustained an unexplained cardiovascular collapse during surgery under general anaesthesia. The patient recovered normally. Postoperatively, neither additional explorations were undertaken nor informations given to the patient. Later on she had to undergo cholecystectomy. Data obtained from preanaesthetic assessment (history, analysis of medical files) were in favour of a past intraoperative allergic accident. Allergological tests confirmed a latex allergy. This case substantiates the importance of a careful preanaesthetic consideration of patient's history and the value of a systematic allergologic exploration after an unexplained intraoperative event compatible with an anaphylactoid reaction. All such events should be clearly explained and a written document handed to the patient.

Adult↗
PubMed2006

[The pseudoalveolar form of sarcoïdosis: a diagnostic pitfall].

BACKGROUND: Sarcoïdosis is a benign systemic granulomatosis whose aetiology remains unknown. Lung is the most frequently involved organ. The pseudoalveolar form of this disease is known to have an acute onset and is quite uncommon. Therefore, diagnosing such a rare variety of sarcoidosis is rather often challenging. OBSERVATIONS: In the present article, the authors report two cases of pseudoalveolar sarcoidosis. The patients, both young adults, showed no suggestive signs of sarcoidosis at first presentation. This resulted in a considerable delay to diagnosis and to the corticosteroid therapy. CONCLUSION: The authors emphasize the rarity of the pseudoalveolar form of sarcoidosis. They insist on its roentgenographic characteristics and demonstrate the functional benefits allowed by the precocious medical management. They also propose a current review of the literature.

Adult↗
PubMed1998

Echogenic structures in the left atrioventricular groove: diagnostic pitfalls.

A variety of echogenic structures that can be detected by echocardiography in the left atrioventricular groove are best seen in the parasternal long-axis view and can be missed if not carefully looked for. Normal anatomic structures or variants can be seen, for example, dilated coronary sinus, persistent left superior vena cava, or lipomatous tissue. Degenerative or inflammatory processes of the mitral annulus (calcification of the mitral annulus, mitral annular abscess) and aneurysms of the left circumflex coronary artery or of the descending aorta can depict pathologic structures. Hiatal hernia and tumors can be found as well.

Aortic Aneurysm, Thoracic↗
PubMedDate not supplied

Diffuse perfusion abnormality of the liver parenchyma on angiography-assisted helical CT in relation to cirrhosis and previous treatments: a potential diagnostic pitfall for detecting hepatocellular carcinoma.

We evaluated diffuse perfusion abnormality of the liver parenchyma in relation to cirrhosis and previous treatments and estimated its potential limitation in detecting hepatocellular carcinomas (HCCs) on CT arterial portography (CTAP) and CT hepatic arteriography (CTHA). Sixty-one patients of liver cirrhosis with or without HCC received both CTAP and CTHA. Irregular defects of enhancement of the liver parenchyma on CTAP were noted in 37 of 61 patients (60.7%) and compensatory arterial perfusion in these defects on CTHA was noted in 30 of 37 patients (81.1%). Most patients had segmental or mixed patterns of enhancement. In patients with severe cirrhosis, irregular enhancement was often noted. The irregularity was also more often in patients who had had previous treatments. Four of 40 HCC nodules in 18 patients with severe irregular perfusion were not detected on CTAP and CTHA. Diffuse perfusion abnormalities of the liver parenchyma on CTAP and CTHA would decrease the accuracy of tumor detection in HCC patients.

Aged↗
PubMed2004

Expression of cytokeratin by malignant meningiomas: diagnostic pitfall of cytokeratin to separate malignant meningiomas from metastatic carcinoma.

Based on clinical and histologic features, differentiating metastatic carcinomas from benign or malignant meningiomas usually is not difficult. Occasionally, however, in some patients without a clinical history of carcinoma, malignant meningiomas can morphologically simulate metastatic carcinoma, necessitating an immunohistochemical study for cytokeratin to make a correct diagnosis. However, the utility of immunohistochemical markers to separate malignant meningioma from metastatic carcinoma has not been investigated. The immunoperoxidase method with antigen retrieval was used to characterize the expression of three cytokeratins (AE1/AE3, CAM 5.2, and Pan cytokeratin), EMA, CEA, Ber-EP4, CD 15, and B72.3 in 12 previously diagnosed malignant meningiomas, 20 benign meningiomas, and 20 metastatic carcinomas. Cytokeratin expression was detected in 75% of malignant meningiomas, 0% of benign meningiomas, and 100% of metastatic carcinomas. While epithelial markers of Ber-EP4, CEA, B72.3 and CD-15 were positive in 90, 80, 70 and 65% of the metastatic carcinoma, respectively, they were negative in all 12 malignant meningioma examined. Vimentin immunoreactivity was seen in all benign and malignant meningiomas, and in 20% of metastatic carcinomas. Our results indicated that cytokeratin is not a reliable immunohistochemical marker to separate a malignant meningioma from metastatic carcinoma. A panel of epithelial markers including Ber-EP4, CEA, B72.3 and CD-15, and vimentin may be needed to separate malignant meningioma from metastatic carcinoma. Cytokeratin expression can be a potential pitfall for confusing a malignant meningioma with a metastatic carcinoma.

Antibodies, Neoplasm↗
PubMed2001

Peripheral T-cell lymphoma with aberrant expression of CD79a and CD20: a diagnostic pitfall.

Immunohistochemical studies are increasingly used for the routine diagnosis of lymphomas as it is widely accepted that lymphomas of different cell lineages vary in their prognosis and response to therapy. A case of peripheral T-cell lymphoma with aberrant expression of B-cell-associated antigens L-26 (CD20) and mb-1 (CD 79a) is described. The disease pursued an aggressive clinical course, and the patient died of disease 6 weeks after presentation. Immunohistochemical studies demonstrated expression of both T- and B-cell-associated antigens, including CD3, CD8, CD43, TIA-1, CD20, and CD79a. Other markers expressed by the tumor cells included CD56 and S-100. Of interest, betaF-1 staining for the beta chain of T-cell receptor (TCR) complex was positive in the small admixed T lymphocytes but was negative in the tumor cells, raising the possibility of a gamma/delta T-cell lymphoma. Molecular studies by polymerase chain reaction (PCR) demonstrated clonal TCR-gamma chain gene rearrangement without evidence for a clonal rearrangement of the immunoglobulin heavy chain gene. PCR for HHV-8 related sequences was negative. Mb-1 is an IgM-associated protein that was thought to be restricted to normal and neoplastic B cells. Although its coexpression has been reported in up to 10% cases of precursor T-cell lymphoblastic lymphoma, the coexpression of both CD20 and CD79a has not been described in mature T-cell malignancies. Biphenotypic lymphomas associated with HHV-8 have been reported in immunodeficiency, but no evidence of immune deficiency was identified, and studies for EBV and HHV-8 were negative. This case illustrates that no marker has absolute lineage specificity and that immunophenotypic studies should always be performed with panels of monoclonal antibodies. Moreover, cases with ambiguous phenotypes may require genotypic studies for precise lineage assignment.

Aged↗