MyMedR

Fulltext Problem based review: The patient with a pyrexia of unknown origin

Woolley AK, Hedger NA, Veettil RP

Acute Med, 2013;12(2):107-10.

Pyrexia of unknown origin (PUO) is a frequent presentation to the Acute Medical Unit, and is a source of significant morbidity, both the psychological burden of an uncertain diagnosis and prognosis and untreated complications of the underlying pathology. We present a problem based review of the management of PUO, illustrated by a patient who recently presented to our unit with fever and systemic malaise after returning from abroad and in whom no cause could be found for more than two months. We describe a structured approach making use of complex modern techniques such as Positron Emission Tomography-Computed Tomography (PET-CT) which ultimately provided the diagnosis for our patient.

Matched MeSH terms: Diagnosis, Differential

Massive paediatric pulmonary haemorrhage in Dieulafoy's disease: Roles of CT angiography, embolisation and bronchoscopy

Woodhull S, Bush A, Tang AL, Padley S

Paediatr Respir Rev, 2020 Nov;36:100-105.

PMID: 32680823 DOI: 10.1016/j.prrv.2020.06.001

Acute, major pulmonary haemorrhage in children, is rare, may be life-threatening and at times presents atypically. Dieulafoy's disease of the bronchus presenting with recurrent or massive hemoptysis was first described in adults. Prior to reviewing the literature, we report an illustrative case of bronchial Dieulafoy's disease (BDD) in a child presenting unusually with massive apparent hematemesis. The source of bleeding is a bronchial artery that fails to taper as it terminates within the bronchial submucosa. A high index of suspicion is required to identify such lesions via radiological imaging and the role of bronchial artery embolisation is highlighted with video images of angiography included.

Matched MeSH terms: Diagnosis, Differential

Dendritic fibromyxolipoma: a variant of spindle cell lipoma with extensive myxoid change, with cytogenetic evidence

Wong YP, Chia WK, Low SF, Mohamed-Haflah NH, Sharifah NA

Pathol. Int., 2014 Jul;64(7):346-51.

PMID: 25047505 DOI: 10.1111/pin.12176

Dendritic fibromyxolipoma (DFML), a rare, recently described distinct benign soft tissue tumor, has many clinicopathological features reminiscent of spindle cell lipoma and solitary fibrous tumor with myxoid change. It is distinguished histologically from both entities by the presence of spindle and stellate cells with dendritic cytoplasmic prolongations, prominent myxoid stroma with abundant keloidal collagen and occasional small plexiform vascular proliferation. We describe a case of histologically confirmed DFML of the left shoulder in a 67-year-old male, in which subsequent cytogenetic analysis revealed deletion involving 13q14.3 region in all the tumor cells, typically detected in spindle cell lipoma. In the presence of many clinicopathological similarities between DFML and spindle cell lipoma including chromosomal abnormalities, we postulate that DFML is merely a rare variant of spindle cell lipoma with extensive myxoid degeneration, and may not be considered as a separate entity. The possible differential diagnosis and their distinguishing features are briefly discussed.

Matched MeSH terms: Diagnosis, Differential

Intrathyroidal oxyphilic parathyroid carcinoma: A potential diagnostic caveat in cytology?

Wong YP, Sharifah NA, Tan GC, Gill AJ, Ali SZ

Diagn Cytopathol, 2016 May 26.

PMID: 27229757 DOI: 10.1002/dc.23493

Oxyphilic (oncocytic) parathyroid lesions are very uncommon and their cytological features are rarely described. Due to the similarities in anatomical location and indistinguishable cytomorphological features, these lesions are easily confused with neoplastic and non-neoplastic thyroid lesions on fine needle aspiration (FNA). The diagnosis becomes more challenging in cases of unusual intrathyroidal location of the parathyroid lesions in the absence of clinical evidence of hyperparathyroidism, which simulate thyroid nodules clinically. We describe a case of intrathyroidal oxyphilic parathyroid carcinoma in a 66-year-old female, who presented with a dominant left "thyroid" nodule. FNA smears were cellular, comprising predominantly of oxyphilic cells arranged in papillary-like architecture with occasional nuclear grooves, which was mistaken for oncocytic variant of papillary carcinoma of the thyroid. The histological diagnosis of oxyphilic parathyroid "adenoma" was made following total thyroidectomy. The tumor, unfortunately, recurred 7 years later with associated multiple lung metastases. When dealing with thyroid lesions comprising predominantly of oncocytic cells, one should consider oxyphilic parathyroid neoplasms as one of the differential diagnosis. In difficult equivocal cases, a panel of immunocytochemical stains (PTH, GATA3, TTF-1, PAX8, and thyroglobulin) can be helpful. In addition, a combination of valuable clinical, radiological, and laboratory data, including serum calcium and parathyroid hormone levels are key to arriving at an accurate cytological diagnosis. Diagn. Cytopathol. 2016. © 2016 Wiley Periodicals, Inc.

Matched MeSH terms: Diagnosis, Differential

Primary extragonadal vaginal yolk sac tumour: A case report

Wong YP, Yahaya A, Che Abdul Aziz R, Chia PY, Loh CK, Tan GC

Malays J Pathol, 2020 Aug;42(2):301-305.

PMID: 32860387

INTRODUCTION: Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads.

CASE REPORT: We described a case of extragonadal vaginal YST in a one year and seven months old girl who presented with vaginal discharge and bleeding, and discuss its differential diagnosis and potential pitfalls in immunohistochemistry. She was found to have a suprapubic mass on examination. The serum alpha fetoprotein was 11919.4 ng/mL. Computed tomography of the pelvis revealed a large 6.4 cm heterogenous pelvic mass. Colposcopic examination of the pelvis showed a fungating vaginal mass that was subsequently confirmed as a yolk sac tumour. Immunohistochemically, the malignant cells were positive toward CKAE1/AE3, AFP and glypican-3, as well as CD117.

DISCUSSION: Solid pattern extragonadal vaginal YST may morphologically resemble dysgerminoma that is also CD117 positive, while the glandular pattern YST may have clear cytoplasm and is positive for cytokeratin; hence, may resemble clear cell carcinoma. Being mindful of these potential diagnostic caveats is necessary to prevent misdiagnosis.

Matched MeSH terms: Diagnosis, Differential

Fulltext Germinoma of the basal ganglia and thalamus--CT and MRI findings

Wong LW, Jayakumar CR

Singapore Med J, 1997 Oct;38(10):444-6.

PMID: 9529959

A case of germinoma originating in the basal ganglia and thalamus is presented. This tumour most commonly originates during childhood and adolescence, at pineal and suprasellar regions. In the early stages, the diagnosis of germinoma in the basal ganglion and thalamus is difficult because of its rarity and non-specific findings. The computed tomography (CT) and magnetic resonance imaging (MRI) findings though non-diagnostic, are discussed here. A few differential diagnoses had been discussed with radiological abnormality. Open biopsy done in this case proved to be two-cell pattern germinoma. Early detection of the tumour is desirable, since this tumour is highly sensitive to radio and chemotherapy and is potentially curable. Our patient was treated with combined chemotherapy and the response was well and no residual tumour or recurrence was seen on the repeated imaging modality, however his neurological deficits remained unchanged.

Matched MeSH terms: Diagnosis, Differential

Synovial sarcoma of the ethmoidal sinus

Wong HT, Ho CY, Nazarina AR, Prepageran N

J Laryngol Otol, 2014 Nov;128(11):1022-3.

PMID: 25274107 DOI: 10.1017/S0022215114002151

Synovial sarcoma is a high-grade, soft tissue, malignant disease associated with poor outcome. Typically, synovial sarcoma involves the extremities, with less than 10 per cent of cases occurring in the head and neck region. Synovial sarcoma of the paranasal sinuses is a rare entity. This paper presents a case of an elderly patient with synovial sarcoma of the ethmoidal sinus.

Matched MeSH terms: Diagnosis, Differential

Cephalhematoma infected by Escherichia coli presenting as an extensive scalp abscess

Wong CS, Cheah FC

J Pediatr Surg, 2012 Dec;47(12):2336-40.

PMID: 23217901 DOI: 10.1016/j.jpedsurg.2012.09.029

Cephalhematoma is normally a self-limiting condition affecting 1%-2% of live births, especially following instrumental forceps delivery. The sub-periosteal bleed is characteristically limited by the cranial sutures. Although benign in most instances, this condition may, in a small proportion of cases, be complicated by hyperbilirubinemia or scalp infection. We describe a case of cephalhematoma in a newborn infant infected with Escherichia coli resulting in an extensive deep seated scalp abscess. The infection was also systemic causing E. coli septicemia and initial assessment assumed local extension including bone and meningeal to cause skull osteomyelitis and meningitis respectively. Further investigations and multiple-modality imaging with ultrasound, CT scan and bone scintigraphy outlined the involvement as limited to the scalp, resulting in a shorter antibiotic treatment period and earlier discharge from hospital. The infant recovered well with parenteral antibiotics, saucerization of the abscess and a later skin grafting procedure.

Matched MeSH terms: Diagnosis, Differential

Fulltext Ectopic pregnancy: uncommon presentations and difficulty in diagnosis

Wong CM, Ganesh R, Ng KY

Med J Malaysia, 1999 Mar;54(1):117-9.

PMID: 10972015

Diagnosis of ectopic pregnancy prior to rupture is an arduous task even with the availability of many new investigative methods and imaging modalities. Above all, a high index of suspicion is necessary when dealing with women who present in early pregnancy with abdominal pain and vaginal bleeding. With the increased use of ovulation induction agents, the probability of heterotropic pregnancy should be kept in mind. The use of transvaginal ultrasonography (TVS) will help in earlier diagnosis because of its advantages over transabdominal ultrasonography (TAS).

Matched MeSH terms: Diagnosis, Differential

Fulltext Congenital mature cystic teratoma of the lateral neck presenting as cystic hygroma: a rare case report with literature review

Win TT, Razy N, Hamid S, Ubramanian AB, Ramalinggam G

Turk Patoloji Derg, 2014;30(3):220-4.

PMID: 24715558 DOI: 10.5146/tjpath.2013.01220

Teratoma of the neck is a rare extra-gonadal teratoma. Although it can be seen in adult, most of the cases present in fetal life or early childhood. Grading and classification of teratoma is important for management and prognosis. Decision making between mature and immature teratoma is sometime challenging if it is not composed of extensive unusual neuroectodermal tissue component. We reported a rare case of huge congenital mature cystic teratoma composted of various neuroectodermal tissues in an 8-month-old boy; it was located at the lateral neck and mimicked congenital cystic hygroma. A literature review was done to grade and classify the tumour.

Matched MeSH terms: Diagnosis, Differential*

Primary mediastinal large B-cell lymphoma and its mimickers: a rare case report with literature review

Win TT, Kamaludin Z, Husin A

Malays J Pathol, 2016 Aug;38(2):153-7.

PMID: 27568673 MyJurnal

Primary mediastinal large B-cell lymphoma (PMLBL) is an uncommon non-Hodgkin lymphoma with a distinct clinicopathological entity in the WHO classification of lymphoid malignancies. It is known to originate from B-cells of the thymus. It mimics thymic neoplasms and other lymphomas clinically and histopathologically. We reported a 33-year-old obese man who presented with shortness of breath off and on for 4 years. Radiologically, there was a huge anterior mediastinal mass. Tru-cut biopsy was initially diagnosed as type-A thymoma. Histopathological examination of the excised specimen revealed PMLBL with stromal fibrosis and sclerosis which created a diagnostic difficulty. The neoplastic cells varied from medium-sized to large pleomorphic cells, including mononuclear cells with centroblastic and immunoblastic features as well as bi-lobed Reed Sternberg (RS)-like cells and horse-shoe like hallmark cells. Some interlacing spindle cells and epithelioid cells were also present. Immunohistochemically, tumour cells expressed diffuse positivity for LCA, CD20, CD79a, CD23, Bcl2, MUM-1 and heterogenous positivity for CD30 and EMA, and were negative for CD10, CD15 and ALK. Ki67 scoring was very high. Tumour cells infiltrated into peri-thymic fat and pericardium. No malignant cells were detected in the pleural fluid and there was no bone marrow infiltration. The patient showed partial response to 6 cycles of RICE chemotherapy, and was planned for second line chemotherapy using hyper-CVAD regimen followed by autologous stem cell transplantation. This case illustrates the importance of thorough sampling and immunohistochemistry in differentiating PMLBL from its differential diagnoses.

Matched MeSH terms: Diagnosis, Differential

Fulltext Distinguishing benign from malignant pelvic mass utilizing an algorithm with HE4, menopausal status, and ultrasound findings

Wilailak S, Chan KK, Chen CA, Nam JH, Ochiai K, Aw TC, et al.

J Gynecol Oncol, 2015 Jan;26(1):46-53.

PMID: 25310857 DOI: 10.3802/jgo.2015.26.1.46

The purpose of this study was to develop a risk prediction score for distinguishing benign ovarian mass from malignant tumors using CA-125, human epididymis protein 4 (HE4), ultrasound findings, and menopausal status. The risk prediction score was compared to the risk of malignancy index and risk of ovarian malignancy algorithm (ROMA).

Matched MeSH terms: Diagnosis, Differential

Retinopathy in a patient with acute Epstein-Barr virus infection: follow-up analysis using spectral domain optical coherence tomography

Weller JM, Bergua A, Mardin CY

Retin Cases Brief Rep, 2015;9(1):72-7.

PMID: 25383851 DOI: 10.1097/ICB.0000000000000087

To describe the clinical findings, diagnostics, and differential diagnosis in a patient with retinopathy in acute systemic Epstein-Barr virus (EBV) infection.

Matched MeSH terms: Diagnosis, Differential

Osseous choristoma of the tongue

Wei Cheong Ngeow, Chin Boon Lian, Shanmahasuntharam P

J Nihon Univ Sch Dent, 1996 Mar;38(1):49-51.

PMID: 8648411

The term "choristoma" is used to describe a mass of histologically normal tissue presenting in an aberrant site. A rare case of osseous choristoma of the tongue is presented and the literature is briefly reviewed.

Matched MeSH terms: Diagnosis, Differential

Microcytic to hypochromic ratio as a discriminant index of thalassaemia trait in subjects with hypochromic anaemia

Wee SY, Muhamed Said SS, Raja Sabudin RZA, Alauddin H, Ithnin A

Malays J Pathol, 2020 Aug;42(2):195-201.

PMID: 32860371

INTRODUCTION: Differentiating between thalassaemia and iron deficiency anaemia (IDA) in hypochromic anaemia is a challenge to pathologists as it influences the choice of subsequent specialized confirmatory tests. In this study, we aimed to evaluate the performance of microcytic to hypochromic ratio (MicroR/ Hypo-He, M/H ratio) as a discriminant index in hypochromic anaemia.

MATERIALS AND METHODS: A retrospective study was carried out on 318 subjects with hypochromic anaemia, which comprised 162 IDA and 156 thalassaemia trait subjects with α-thalassemia, β-thalassemia and HbE trait. Optimal cut-off value, sensitivity and specificity of M/H ratio for thalassaemia trait discrimination was determined using Receiver Operating Characteristic (ROC) analysis.

RESULTS: Subjects with thalassaemia trait showed higher MicroR compared to IDA ( p< 0.001) while subjects with IDA demonstrated higher Hypo-He than thalassaemia trait (p < 0.001). M/H ratio was significantly higher in thalassaemia trait compared to IDA, with medians of 3.77 (interquartile range: 2.57 - 6.52) and 1.73 (interquartile range: 1.27 - 2.38), respectively (p < 0.001). M/H ratio ≥ 2.25 was the optimal cut-off value for discriminating thalassaemia trait from IDA in hypochromic anaemia, with the area under ROC curve (AUC) of 0.83, sensitivity of 80.8% and specificity of 71.6%.

CONCLUSIONS: M/H ratio is a useful discriminant index to distinguish thalassaemia trait from IDA in hypochromic anaemia prior to diagnostic analysis for thalassaemia confirmation. High M/H ratio is suggestive of thalassaemia trait than of IDA. However, more studies are required to establish the role of M/H ratio as a screening tool for thalassaemia discrimination in hypochromic anaemia.

Matched MeSH terms: Diagnosis, Differential

When water is thicker than blood: recognising a systemic cause of haemoptysis

Wedge E, Abrahamson E, Tudor-Williams G, Nadel S, Deal J

Arch Dis Child Educ Pract Ed, 2017 Aug;102(4):210-219.

PMID: 27780827 DOI: 10.1136/archdischild-2015-308957

The case of an 11-year-old child presenting with acute haemoptysis and breathlessness is described. The girl was Malaysian and had recently arrived in the UK. She subsequently deteriorated, developing respiratory failure. The course of the illness is described, with reference to the diagnostic process at each stage. The case demonstrates the importance of having a broad investigatory approach in acute haemoptysis.

Matched MeSH terms: Diagnosis, Differential

Fulltext Tophaceous gout causing atlanto-axial subluxation mimicking rheumatoid arthritis: a case report

Wazir NN, Moorthy V, Amalourde A, Lim HH

J Orthop Surg (Hong Kong), 2005 Aug;13(2):203-6.

PMID: 16131689 DOI: 10.1177/230949900501300220

This is a case report of an extremely rare condition of atlanto-axial subluxation secondary to gouty arthritis, which mimicked rheumatoid arthritis at presentation. Gouty arthritis involving the spine is a rare condition. We highlight a case of gouty arthritis involving the atlanto-axial joint resulting in joint instability, subluxation, and neurological deficit. A 66-year-old obese woman who had a polyarticular disease for the previous 3 years presented with neck pain and progressive neurology. A 2-stage procedure was performed: posterior decompression and occipitocervical fusion followed by further anterior trans-oral decompression. However, after an initial neurological improvement, she succumbed to aspirational pneumonia and septicaemia. Atlanto-axial subluxation caused by gouty arthritis can present in the same way as rheumatoid arthritis. Therefore, the possibility of this as a differential diagnosis should be kept in mind.

Matched MeSH terms: Diagnosis, Differential

Eosinophilia and musculoskeletal disease

Watts RA

Curr Opin Rheumatol, 2001 Jan;13(1):57-61.

PMID: 11148716

Eosinophilia is occasionally a feature of rheumatic disease. The differential diagnosis of eosinophilia includes parasitic infection, systemic vasculitides, eosinophilic arthritis, and myopathies, together with the idiopathic hypereosinophilic syndrome and malignancy. Careful evaluation of the patient should enable an accurate diagnosis to be made. Parasitic infection is the commonest cause of eosinophilia worldwide and can cause systemic disease, as illustrated by the report of Sarcocystis myositis in a group of military personnel in Malaysia. A persistent arthropathy associated with eosinophilia, but not with parasitic infection, has been reported from the far East. Drugs may also cause eosinophilia, and there has recently been much discussion of the relation between Churg-Strauss syndrome and the leukotriene antagonist zafirlukast. The present view is that reduction of steroid dose allows unmasking of previously undiagnosed Churg-Strauss syndrome. The idiopathic hypereosinophilic syndrome may represent a lymphoproliferative process; evidence for this comes from the demonstration that many patients have a clonally expanded population of aberrant T cells.

Matched MeSH terms: Diagnosis, Differential

Fulltext A rare cause of back pain and radiculopathy - spinal tophi: a case report

Wan SA, Teh CL, Jobli AT, Cheong YK, Chin WV, Tan BB

J Med Case Rep, 2019 Jan 08;13(1):8.

PMID: 30626451 DOI: 10.1186/s13256-018-1940-4

BACKGROUND: Gout is a monosodium urate deposition disease which is prevalent worldwide. The usual manifestations are crystal arthropathy and tophi deposition in the soft tissues. Spinal tophi may also occur and are rarely reported, resulting in various clinical manifestations such as back pain, spinal cord compression, radiculopathy, and even mimicking epidural abscess and spondylodiscitis.

CASE PRESENTATION: We report a case of a 42-year-old Chinese man with underlying gout who presented with back pain and radiculopathy. The diagnosis of spinal tophi was unsuspected and he was initially treated for epidural abscess and spondylodiscitis. He underwent a laminectomy and posterolateral fusion during which tophus material was discovered. He recovered and medications for gout were started.

CONCLUSION: Spinal tophi are rare. The diagnosis is difficult and spinal tophi may be mistaken for epidural abscess, spondylodiscitis, or neoplasm.

Matched MeSH terms: Diagnosis, Differential

Fulltext Unilateral Congenital Choanal Atresia: A Rare Missed Cause of Chronic Nasal Discharge

Wan Nur Anis Wan Draman, Addina Mat Baki, Hashimah Ismail, Shamina Sara Moses, Irfan Mohamad

Malaysian Journal of Paediatrics and Child Health, 2020;26(1):14-20.

MyJurnal

Choanal atresia is an uncommon malformation of the upper airway. Bilateral choanal atresia usually detected earlier as it is often associated with severe asphyxia immediately after birth. The diagnosis is often delayed in unilateral type, and mostly presented with unilateral chronic nasal discharge. This condition is rarely encountered but should be considered as a possible differential diagnosis of persistent nasal discharge. We present a case of unilateral congenital choanal atresia in a 4-month-old baby girl presented with persistent unilateral nasal discharge. Diagnostic investigation and possible surgical treatment techniques were discussed.

Matched MeSH terms: Diagnosis, Differential

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