Cyclocongestive angle closure glaucoma: a diagnostic challenge

The cyclocongestive angle closure glaucomas are a group of disorders in which choroidal congestion produces forward rotation of the ciliary body, resulting in closure of the peripheral anterior chamber angle. Continued aqueous production induces an acute rise in intraocular pressure. The following case report illustrates and discusses the presentation, etiologies, pathogenesis, differential diagnosis and management of this rare clinical entity. Since prompt intervention in cyclocongestive angle closure glaucoma is crucial, optometrists should be familiar with this set of disorders as well as optimal comanagement strategies.     

Cytomorphology of hyaline-vascular Castleman''s disease: a diagnostic challenge

OBJECTIVE: Hyaline-vascular Castleman's disease (CD) is difficult to diagnose on fine needle aspiration and may be mistaken to be a lymphoreticular malignancy because of the presence of large cells having nuclei showing atypical features. The cytomorphological findings in three histopathologically documented cases of hyaline-vascular CD were evaluated to a set of cytomorphological criteria which could help in the identification of this condition on aspirate smears. METHODS: The Papanicolaou and Diff-Quik stained smears from three cases of histologically documented hyaline-vascular CD were reviewed by one author. After review the following cytomorphological criteria were suggested to be indicators of the lesion. (i) The presence of large oval to round cells having ill-defined cytoplasmic margins and large nuclei with irregular nuclear outlines having fine or coarse chromatin giving a crumpled tissue paper appearance. (ii) A polymorphous population of lymphoid cells predominantly of small lymphocytes in the background. The smears from these three cases were then mixed with smears from four cases of reactive lymphoid hyperplasia and three cases of Hodgkin's lymphoma. These ten cases were blindly evaluated by two other cytopathologists in order to evaluate the utility of the proposed criteria in identifying CD. RESULTS: The cytomorphological criteria seen in the methodology section were present in all the cases. These features were helpful in distinguishing CD from reactive lymphoid hyperplasias and Hodgkin's Lymphomas in all cases except one case. CONCLUSION: Although hyaline-vascular CD is a difficult diagnostic entity on aspirate material the presence of large histiocytic cells with a crumpled tissue paper appearance of the nuclei in a background of small lymphocytes are useful indicators for suspecting this lesion. However, these findings should be analysed in larger studies to determine if they could in anyway reduce the diagnostic dilemma in cases of CD.     

Kikuchi's disease: an unusual presentation and a therapeutic challenge

Kikuchi’s disease, or necrotizing histiocytic lymphadenitis, is a rare disease that presents predominantly in young women in their 20s and 30s from the Far East. Our case depicts an African-American male, in his sixth decade of life, presenting with Kikuchi’s disease, making our case unusual. The clinical presentation, together with laboratory and pathological tests described here, specifically the utilization of immunohistochemistry, aid in establishing a diagnosis. We advocate the use of steroids as symptomatic therapy and provide a novel and successful therapeutic regimen. We do not recommend antibiotic therapy until an infectious etiology is confirmed.     

Solitary fibrous tumour: a diagnostic challenge for the cytopathologist

N. Gupta, A. Barwad, K. Katamuthu, A. Rajwanshi, B. D. Radotra, R. Nijhawan and P. Dey Solitary fibrous tumour: a diagnostic challenge for the cytopathologist Background: Solitary fibrous tumour (SFT) is an uncommon spindle cell tumour that can occur in a variety of locations. Cytological features of this tumour have only rarely been reported in the literature. We describe the cytomorphological features of SFT with an emphasis on diagnostic pitfalls. Methods: We retrieved nine cases of histopathologically proven SFT. Three cases had sampling error with inadequate smears and, therefore, six cases with adequate cellularity were analysed for cytological findings. The cytomorphological features and the differential diagnoses on fine needle aspiration cytology (FNAC) are discussed. Results: No definitive cyto‐diagnosis of any of these cases was possible because of the morphological overlap with various soft tissue tumours and other tumour types. There was one false‐positive case, in which the possibility of sarcoma was suggested due to the presence of scattered atypical cells. Cytologically, the smears from the SFTs showed spindle to plump cells embedded in metachromatically staining dense ropy collagen material. The cells usually had oval to spindle shaped nuclei, bland chromatin and wavy elongated pale staining cytoplasm. Conclusion: A diagnosis of SFT on cytology smears is challenging. Careful attention given to certain cytological features in an appropriate clinicoradiological setting and application of immunochemistry, including CD34 and CD99 immunostaining on cytological samples, can help in the diagnosis of SFT in some cases. It is important to consider cytological overlaps of this tumour in order to avoid false‐negative or false‐positive results.     

Females with PDHA1 gene mutations: a diagnostic challenge

Biochemical analysis was performed in muscle tissue and in fibroblasts of four unrelated females consecutively diagnosed with a 'de novo' point mutation in the PDHA1 gene. Pyruvate dehydrogenase E1 subunit deficiency was confirmed in the muscle sample of all patients, however, in three out of four cases the activity of the pyruvate dehydrogenase complex in fibroblasts showed a normal activity. A skewed inactivation was confirmed of the maternal X chromosome in fibroblasts in all children. Due to the possibility of a skewed X inactivation pattern enzyme measurements in fibroblasts are not always reliable for the diagnosis of a PDHc defect in females. Based on the overlapping features of PDHc deficiency with those of the disorders of the oxidative phosphorylation we suggest performing a fresh muscle biopsy for detailed biochemical analysis in females with a suspected pyruvate dehydrogenase deficiency, followed by molecular genetic analysis of the PDHA1 gene.     

Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report

Background  

Sporadic fatal insomnia (sFI) and fatal familial insomnia (FFI) are rare human prion diseases.     

Osteoid osteoma of the distal phalanx of the finger: a diagnostic challenge.

Osteoid osteomas of the distal phalanx of fingers are uncommon. An extensive review of the literature indicates that the diagnosis of osteoid osteoma of the distal phalanx is often delayed for several months to years (average 34.3 months). Pain is the most common finding (92 percent), followed by swelling and clubbing (75 percent). Relief of pain by aspirin was indicated in 10 patients (42 percent). Multiple operations were done in 7 patients prior to the appropriate diagnosis and treatment. A typical case report is presented to illustrate the difficulties in diagnosis and treatment of this benign bone tumor. A better awareness of this tumor may prevent unwanted delays in diagnosis and unnecessary operations.     

Differential diagnostic challenge of chronic neutrophilic leukemia in a patient with prolonged leukocytosis

Our interesting case deals with the clinical and morphological aspects of a chronic neutrophilic leukemia and the critical evaluation of differential diagnosis of leukemoid reaction in bone marrow biopsies.     

A case report of an unrecognized nevoid melanoma in a young woman--clinicopathological diagnostic challenge

Nevoid melanoma is a rare form of melanoma histologically resembling benign melanocytic nevi and may be overlooked in routine histological sections. Authors are presenting a case of a 31-year-old woman who presented with bizarre pigmented skin lesions in the area of the postoperative scar on the back where, 6 years earlier, a "nevus pigmentosus epidermo-dermalis" was excised and hystologically confirmed in outer institution. The lesions were surgically removed and histopathological findings were characteristic for nevoid melanoma. Additionally, specimen of primary removed lesion was reexamined and primary nevoid melanoma was then recognized, therefore indicating that the lesions our patient presented with are nevoid melanoma recidivisms. Extensive diagnostic procedures showed no signs of melanoma dissemination. Three months later, the patient returned for consultation and presented with two new brownish-pigmented papules in the area of the new postoperative scar. The lesions were excised and new nevoid melanoma recidivism was confirmed. The patient remained under the regular follow up and, almost 9 years after the removal of primary nevoid melanoma, followed by two cutaneous recidivisms, remains disease-free. This case aims to highlight the problematic area in the analysis of pigmented skin lesions where nevoid melanoma represents one of the clinical and pathological diagnostic challenges.     

Toxoplasmosis: a persisting challenge

The sixth biennial International Congress on Toxoplasmosis, organized by Uwe Gross (University of Göttingen, Germany), was held on 21–25 May 2001 in Freising, Germany. The first meeting of this kind in 1990 was attended by only 26 investigators and this year there were 115 participants covering various research topics including the immunology, epidemiology, cellular and molecular biology of Toxoplasma gondii.