Coats' disease in Tanzania: first case report and literature review

Background

Coats'' disease is an exudative retinal detachment with vascular telangiectasis occurring mostly in male children, the age group most affected by retinoblastoma.

Objectives

Compare the differential diagnoses of Coats'' diseaseEstablish recommendation to early disease detection.

Materials and Methods

A 3-year-old female child was referred to Muhimbili National Hospital (MNH), Tanzania, in September 2011. She had presented at the peripheral hospital with gradual onset of left eye leukocoria for 1 year and pain for 2 months. B-scan showed a mass in the left eye. A clinical diagnosis of retinoblastoma was made. Left eye enucleation was performed; the patient was referred to MNH, with the enucleated specimen.

Results

Brain and orbits scan revealed no residual tumour. The globe measured 2x1.8 cm, the optic nerve stump measured 3 mm. A whitish mass filled the vitreous, with complete retinal detachment. Microscopy showed retinal gliosis, detachment with sub retinal PAS positive exudates, vacuolation and cholesterol clefts. Foreign body giant cells were present; telangiectatic thin-walled blood vessels were identified. Clinico-pathological findings were of stage 4 Coats'' disease.

Conclusion

Coats'' disease is an important differential diagnosis of retinoblastoma. Delay to detect Coats'' disease leads to vision loss which necessitates eye enucleation as was in this child.     

August 2003: 47-year-old female with a 7-year history of osteomalacia and hypophosphatemia

The August 2003 COM. A 47-year-old woman presented with a long history of muscle pain, weakness, and visual disturbances. Over the last year, she developed diplopia and left sixth nerve palsy. No other neuro-ophthalmologic abnormalities were found. Past medical and family history was unremarkable. Laboratory investigation disclosed hypophosphatemia, phosphaturia, elevated serum alkaline phosphatase activity, and normal serum calcium levels. CT scans showed a lobulated mass arising on the meningeal surface of the cavernous sinus, measuring 3x 2 x 2 cm. The lesion was partially resected and microscopic examination revealed a highly vascularized tumor composed of primitive mesenchymal cells arranged whether in a patternless-pattern or surrounding thin-walled, branching vascular spaces and thick-walled hyalinized vessels. Other eye-catching features were microcystic areas, multinucleated osteoclastic-like giant cells, scattered islands of mature adipocytes, foci of hemorrhage, thrombosed medium-sized-to-large vessels, and hemosiderin-laden macrophages. After surgery, the patient recovered from the muscle pain and weakness, with a significant improvement of serum calcium and alkaline phosphatase levels and phosphate blood levels. Taken together, the clinical and pathologic features were consistent with a diagnosis of phosphaturic mesenchymal tumor (mixed connective tissue variant) of the cavernous sinus in a setting of oncogenic osteomalacia. No further treatment was carried out. The patient has been followed for the last 4 years with no evidence of recurrent disease. Oncogenic osteomalacia is a rare clinical entity characterized by hypophosphatemia, phosphaturia, and a low concentration of 1,25-dihydroxyvitamin D(3) caused by a neoplasm. Pathologists should be aware of this entity, because surgical excision of the tumor is usually curative.     

Metastatic esthesioneuroblastoma in a horse

A 17-year-old horse developed severe proptosis of the left eye over a period of 1.5 years. At post-mortem examination a neoplasm was found involving the left ethmoid bone, left maxillary sinus, left orbit, left superior turbinate, and the left eye. Tumour cells were arranged in nests separated by a fine fibrovascular stroma. Immunohistochemically, the tumour cells were labelled by antibodies against neurofilament protein, synaptophysin, glial fibrillary acidic protein and S-100 protein antigen, but were negative for chromogranin A, cytokeratin and desmin. Electronmicroscopically, the cells showed neurosecretory granules with an electron-dense centre and a light halo, and microfilaments. On the basis of macroscopical, light microscopical and ultrastructural findings a diagnosis of a metastatic esthesioneuroblastoma was made.     

Basaloid squamous carcinoma of the hypopharynx with an extensive spindle cell component exhibiting a pedunculated polypoid mass

We report a case of basaloid squamous carcinoma of the hypopharynx with an extensive spindle cell component in an 82-year-old man. The tumor (4.0 x 2.5 x 2.2 cm) was a pedunculated polypoid mass that was attached to the left pyriform sinus. Histologically, most (70%) of the tumor was composed of malignant spindle cell proliferation, and the rest (30%) was basaloid squamous carcinoma. Some of the spindle cells were positive for cytokeratins. The preoperative histologic diagnosis was difficult because the endoscopic biopsy specimens showed only spindle cell proliferation. This is an unusual presentation of basaloid squamous carcinoma of the head and neck.     

Beh?et’s disease-like syndrome secondary to microbial infection: a case report and review of the literature

Behçet’s disease (BD)-like syndrome is an extremely rare situation occurred after Mycobacterium tuberculosis infection and virus infection. We reported a 45-year-old woman who visited our hospital complaining of swollen left ankle, painful genital ulcer, redness in the left eye and skin rash on lower limbs. The patient had a history of pleural tuberculosis and had received anti-tuberculous therapy for one year. Her left cervical lymph node sample demonstrated tubercle bacilli DNA fragmentation. The diagnosis of tuberculous lymphadenitis and Behçet’s disease (BD)-like syndrome were made. This patient’s symptoms remitted following treatment with anti-tuberculous therapy. This case indicates that some microbial infection can trigger the onset of BD-like syndrome in genetically susceptible subjects. However, treatment strategy of BD-like syndrome secondary to infection is totally different from primary BD. The aim of this case report is to present our experience of the different clinical signs and treatment of BD-like syndrome to expedite its early diagnosis in future. Combination of clinical, radiological, immunophenotypic, pathological, and genetic data contribute to improving the rate of diagnosis.     

Primary diffuse large B-cell lymphoma of the ethmoid sinus

Malignant lymphoma of the ethmoid sinus is very rare. A case of diffuse large B-cell lymphoma (DLBCL) of the left ethmoid sinus is presented here. A 79-year-old Japanese man was consulted to our hospital because of head ache and disturbance of left eye movement. Nasal endoscopy revealed a tumor, and imaging modalities including CT and MRI detected a tumor in the left ethmoid sinus. The tumor was invasive into left eye and left nose. A biopsy was performed via the nasal cavity. The biopsy revealed a diffuse proliferation of atypical lymphocytes. The atypical lymphocytes were large and had enlarged hyperchromatic nuclei. Mitotic figures were scattered. Hodgkin's cells were absent. Follicular structures were not seen. Immunohistochemically, the tumor cells were negative for cytokeratins (AE1/2, polyclonal, KL-1, and CAM5.2, Dako) and epithelial membrane antigen, CD3, CD15, CD30, CD45RO, and TdT. In contrast, the tumor cells were positive for CD20, CD45, CD79α, and p53. KI-67 labeling was 100%. Light chain restriction was present; there were numerous λ-chain-positive cells, while κ-chain-positive cells were scant. The pathological diagnosis was DLBCL of the left ethmoid sinus. Imaging of the whole body revealed no tumors and lymphadenopathy other than the ethmoid DLBCL. The patient was treated with chemoradiation, and is now alive 3 months after the presentation. In conclusion, a very rare case of DLBCL of the ethmoid sinus was reported.     

Endoscopic ultrasound-guided fine-needle aspiration of metastatic alveolar rhabdomyosarcoma to the pancreas with fluorescence in situ hybridization: a case report

Alveolar rhabdomyosarcoma (ARMS) is a rare tumor in adults. Cytologic diagnosis of metastatic ARMS to the pancreas diagnosed by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) has been reported rarely in the literature. A 20-year-old male with a history of ARMS in the right maxillary sinus resected one year earlier and pancreatitis treated two months earlier, presented on routine follow-up. Abdominal positron electron tomography-CT scan revealed a mass in the pancreas and fluorodeoxyglucose uptake in the left paraaortic lymph node. Subsequent magnetic resonance imaging of the abdomen showed a 3.6 × 6.4 cm mass in the tail of the pancreas. EUS-FNA was performed using a 22-gauge needle. Cytologic criteria and immunohistochemistry in the smears were analyzed. A diagnosis consistent with metastatic ARMS was rendered. Subsequent FISH analysis of the case and histologic review of the primary tumor supported the final diagnosis. A diagnosis of metastatic ARMS to the pancreas can be made by EUS-FNA. FISH can be used as an ancillary technique in diagnosing the tumor.     

Malignant myoepithelioma of the breast: case report with review of literature

Myoepithelial lesions of the breast are extremely rare and can present with a diverse morphology. We report a case of malignant myoepithelioma characterized by proliferation of atypical oval to polygonal cells expressing typical myoepithelial markers. A 45-year-old lady presented with a mass in the left breast. Fine needle aspiration yielded a cellular smear with large papillae-like clusters of monomorphic cells with naked nuclei in the background. A diagnosis of sub-areolar sclerosing duct hyperplasia was made on cytology and the patient underwent excision. The surgical specimen showed a grey-white 5x3 cm mass on cut surface. Histopathology revealed mitotically active (5-6 per 10hpf) oval to polygonal cells tumor cells with clear to eosinophilic cytoplasm arranged in the form of nodules separated by dense sclerotic stroma mimicking clear cell or adenoid-cystic carcinoma. A diagnosis of malignant myoepithelioma was made as the cells were CK14 and SMA positive, and negative for ER and PR on immunohistochemistry. We discuss the unusual morphological features of malignant myoepithelioma, cytological findings and the important differential diagnoses of malignant myoepthelial lesions. A high degree of suspicion with a keen eye for morphological details coupled with relevant immunohistochemistry will aid in arriving at the diagnosis.     

Hydatid cyst of the left ventricle of the heart

Hydatid disease of the heart is rare. We report a case of hydatid cyst of left ventricle in a forty year old lady where the diagnosis was made intra-operatively. The transthoracic and transesophageal echocardiography showed a mixed echogenic mass arising from the left ventricle. The diagnosis of hydatid cyst was confirmed by the demonstration of scolex and hooklets in the cyst fluid. Hydatid cyst should be a differential diagnosis for a mixed echogenic mass on echocardiography.     

Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia

Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia. We would like to present two patients of testicular adrenal rest tumors. Patient 1 24 year-old male, he was diagnosed with congenital adrenal hyperplasia at the age of 8 due to precocious puberty. He received hydro-cortisone treatment until the age of 18. Testicular mass had been detected and right radical orchiectomy had been applied 6 months ago and reported as testicular adrenal rest tumor. In scrotal ultrasound, a mixed type mass lesion (6 × 4x3 cm) covering a large part of left testis was observed. The imaging findings were consistent with adrenal rest tumor. The patient took adrenocorticotropic hormone supressive therapy with dexamethasone 0.75 mg once a day. Patient 2, 38 year-old male, he had been followed-up as adrenal insufficiency for 35 years. He underwent right orchiectomy operation due to the testicular mass in 2010 and the pathological examination revealed Leydig cell tumor. In scrotal ultrasound, small multifocal lesions were detected on the left testis and resection was done. It was reported as testicular adrenal rest tumor. He is being followed-up with glucocorticoid treatment according to androgen and adrenocorticotropic hormone levels. Early diagnosis of testicular adrenal rest tumor is significant in preventing irreversible testicular damage and infertility. In the differential diagnosis, we should keep in mind that testicular adrenal rest tumor can mimic other testicular tumors such as primary germ cell tumors.     

Unsuspected metastatic renal cell carcinoma with initial presentation as solitary soft tissue lesion: a case report

A 42 year old male presented with painless soft tissue mass 8x7x6.5 cm in right scapular region for 2 months. Fine needle aspiration cytology (FNAC) showed a malignant clear cell tumour. Ultrasonography (USG) abdomen revealed a heterogeneous mass m 8.6x7x8.4 at the lower pole of left kidney. USG guided FNAC from left kidney mass showed cytomorphology consistent with RCC.     

An unusual mucinous osteoma with features of an ossifying fibroma in the nasal cavity of a horse

A 4-month-old Warm-blooded colt presented with facial distorsion and an abnormal respiratory noise of 2 weeks' duration. A proliferative mass was found endoscopically and by computer tomography. Clinical differential diagnosis included cyst formation of the concha, malformation and neoplasia. Euthanasia was followed by post-mortem examination, which revealed a well-circumscribed, semi-solid, jelly like structure, measuring 14.5 x 9.0 x 12.0 cm, in the left posterior nasal cavity extending into the left frontal and maxillary sinus. Histologically, the mass consisted of trabeculae of woven bone, focal lamellar bone and fibroblast proliferation within a moderate fibro-vascular stroma. Abundant mucin production was noted within areas of fibroblastic differentiation. Some areas contained irregularly shaped spicules of osteoid rimmed by osteoblasts, randomly distributed within a moderately vascularized, fibro-osseous stroma. On the basis of the histopathological features, a nasal mucinous osteoma with focal ossifying fibroma-like structures was diagnosed.     

Isoliert extranodale Rosai-Dorfman-Erkrankung

A case of extranodal sinus histiocytosis with massive lymphadenopathy (ENSHML; Rosai-Dorfman disease) is reported. The patient presented with a history of intracranial tumour and exophthalmus. Clinical examination found a large mass in the left orbit and paranasal sinuses. Excisional biopsy showed a dense fibrous tissue with an infiltrate rich in macrophages. Further evaluation revealed a retroperitoneal mass with consecutive ureteral stenosis. Further histological and immunohistochemical investigation of the orbital mass, now in suspicion of a systemic disease showed an infiltrate of S-100-positive histiocytes and emperipolesis allowing the diagnosis of extranodal sinus histiocytosis. The correct histologic diagnosis was delayed due to the unusual and isolated extranodal localisation of the disease. The literature concerning extranodal manifestations of Rosai-Dorfman disease is reviewed. We suggest the additional evaluation of such rare and unusual cases in experienced reference centers.     

Adrenal cortical carcinoma metastatic to the breast

A 56 year old woman was diagnosed with adrenal cortical carcinoma in May 2003, for which she underwent left radical adrenalectomy. Eight months later, in January 2004, she presented with a solitary, well delineated, left breast mass with central pleomorphic calcifications on mammographic examination. A diagnosis of metastatic adrenal cortical carcinoma was made on core biopsy. Subsequently, the patient underwent a lumpectomy of the mass, which confirmed the diagnosis. To our knowledge, this is the first case report of adrenal cortical carcinoma metastatic to the breast.     

Myoepithelial carcinoma of the orbit: a clinicopathological and histopathological study

Tran TL, Broholm H, Daugaard S, Fugleholm K, Poulsgaard L, Prause JU, Kennedy SM, Heegaard S. Myoepithelial carcinoma of the orbit: a clinicopathological and histopathological study. APMIS 2010; 118: 324–30. Two cases of invasive myoepithelial carcinoma arising from the paranasal sinuses and invading the orbit are presented. Patient 1, a 53‐year‐old man, had a 3‐month history of proptosis, pain and epiphora of the right eye. The second patient, a 24‐year‐old man, had for a week been complaining of protrusion of his left eye and of orbital pain. Computed tomography scan and magnetic resonance imaging revealed tumour masses in the frontal, ethmoidal and maxillary sinuses with invasion of the orbit and the frontal lobe. Biopsies from both cases showed spindle and epithelioid tumour cells. Mitotic figures were frequent. Immunohistochemical staining showed positive reaction for bcl‐2, calponin, cytokeratins, CD99, S100, muscle‐specific antigen, smooth muscle antigen and vimentin. The Ki‐67 index was between 30–50% and 5–25%, respectively. Ultrastructurally, intermediate filaments, perinuclear tonofilaments and desmosomes were present. Based on these findings, a diagnosis of myoepithelial carcinoma of mixed cell type in both cases was evident. Both patients died shortly after the diagnosis was made even though both underwent radical surgery. Myoepithelial carcinoma of the paranasal sinuses is very rare and only six cases have been reported previously. We present the first two cases of myoepithelial carcinoma in the paranasal sinuses with invasion of the orbit. This is also the first report of myoepithelial carcinoma arising in the ethmoidal sinus.     

Invasive rhino-orbital-cerebral aspergillosis in an immunocompetent patient

IntroductionRhino-orbital-aspergillosis (ROA) is a rare but serious disease in immunocompetent patients. Diagnosis is often delayed due to the absence of specific clinical symptoms. We describe the case of a patient who presented initially with ROA which spread progressively to the right ethmoid-sphenoid sinuses and then to the brain.ObservationA 61-year-old patient with a history of well-controlled diabetes presented with a sudden severe decrease in right visual acuity. Cerebral MRI showed the presence of an infiltrate in the right orbital apex extending to the homolateral cavernous sinus without any cerebral involvement. A diagnosis of right orbital myositis was made and corticosteroid therapy was started. His symptoms worsened progressively leading to quasi-blindness. A new MRI showed the development of right sphenoid-ethmoid osteolytic lesions. A fungal aetiology was suspected and tests for fungal biomarkers found a β-(1-3)-D-glucan level of 99 pg/ml but negative galactomannan. An ethmoid biopsy was performed for histological and mycological investigations, including the detection of Aspergillus DNA by qPCR. qPCR was positive and culture resulted in the isolation of multi-sensitive Aspergillus fumigatus. Treatment was initiated with voriconazole. Due to persistence of blindness and the appearance of a lesion extending to the right frontal lobe, surgical excision was performed followed by antifungal treatment for a total duration of 1 year. The patient is currently stable, but has persistence of blindness in the right eye.ConclusionInvasive ROA is a rare but serious disease in immunocompetent patients which should be evoked in the differential diagnosis of a tumour or vasculitis. Early diagnosis is essential for optimal management.     

Cefotam concentrations in the sinus fluid of patients with chronic sinusitis after administration of cefotiam hexetil

Cefotiam hexetil is a prodrug of cefotiam. The concentrations of cefotiam in plasma and sinus secretions were determined in 18 patients (10 males, 8 females, aged 39.3±13.0 years) with chronic sinusitis. All patients received two 200 mg oral doses of cefotiam hexetil 12 h apart and were divided into four groups according to the time which elapsed between the last dose and collection of secretion samples. The last dose was given 2 h (group I), 3 h (group II), 4 h (group III) or 6 h (group IV) before sinus puncture. Cefotiam concentrations were measured by high-pressure liquid chromatography and microbiological assay, results being very similar with both methods. Mean concentrations of cefotiam with the standard deviation in sinus exudates were 1.04±0.60 mg/l at 2 h (n=6), 1.04±0.33 mg/l at 3 h (n=4), 0.75±0.74 mg/l at 4 h (n=4) and < 0.10 mg/l at 6 h (n=4). Mean sinus fluid concentrations were higher than mean plasma concentrations in all groups. These results suggest that cefotiam concentrations higher than the MICs for common pathogens are found in sinus secretions up to 4 h after oral administration of cefotiam hexetil.     

Adenoid cystic carcinoma of maxillary sinus with metastatic hepatocellular carcinoma. Case report

A case of collision tumor in the left maxillary sinus composed of adenoid cystic carcinoma (ACC) and metastatic hepatocellular carcinoma (HCC) is reported. Radiographic examination revealed masses in the liver and bilateral lung metastases. Histologically, proliferation of tumor cells with resemblance to HCC was observed, in addition to the ACC. For this reason, differential diagnosis between a second primary tumor and metastasis was made. The metastatic lesion immunohistochemically showed positivity for hepatocyte antigen (OCH1E5) and protein induced by vitamin K absence or antagonist II (PIVKA-II), sustaining the HCC diagnosis. Primary ACC and metastatic HCC in the maxillary sinus are rare, and this may therefore be the first case of maxillary sinus tumor with both these elements.     

Melanocytoma of the ciliary body diagnosed by fine-needle aspiration biopsy

A 55-yr-old African American man was referred for evaluation of a mass involving the anterior choroid/ciliary body in his left eye. Dilated fundus examination revealed a large, deeply pigmented mass associated with an exudative retinal detachment. Ultrasonography demonstrated an elevated mass which involved the anterior uvea and showed low reflectivity by standardized A-scan. Cytologic examination of fine needle aspiration (FNA) biopsy from the tumor was interpreted as a melanocytoma. The patient developed a total retinal detachment and secondary glaucoma which led to enucleation of the eye. Histopathologic examination confirmed the diagnosis of melanocytoma. To our knowledge, this is the first report in which the diagnosis of uveal melanocytoma was established by FNA biopsy and later confirmed histopathologically.     

Treatment results of patients with bacteriologically confirmed tuberculosis registered in Poland in 1996

Basing on the data from the Central Tuberculosis Register (existing since 1985), an analysis on the treatment regimens and outcomes was made in 7.919 (6.538 new cases and 1.010 recurrents) patients with active confirmed bacteriologically tuberculosis in 1996. After one year follow-up, among 7.919 patients: 371 were untreated (2.3%), 6.551 were cured (82.7%) (3 x 3 negative smears and culture examinations in the period of 6 months after last positive examination; and 386 were doubtful (4.9%)--i.e. patients in whom 1 x 3 or 2 x 3 negative smears and culture examinations were obtained after last positive examination. 676 patients (8.5%) died of which 418--(4.0%) due to TB; 121 patients--1.5% were still positive. In summary--87.6% of patients were cured or considered as completed treatment. In 1996 year 77.1% patients received four--drug regimens (INH, RMP, PZA, SM/EMB), 18.6% of patients received--3 drugs (in the majority INH, RMP, PZA) in the initial phase of the treatment. The treatment in this phase is, in the majority of cases, performed in hospital under supervision. In spite of the high efficacy of applied regimens, the duration of treatment was too long: 55.9% patients was treated longer than 6 months (32.8% > 9 months).