A 2-year-old Malay boy was brought to the University Malaya Medical Centre for thalassaemia screening. Physical examination revealed thalassaemia facies, pallor, mild jaundice, hepatomegaly and splenomegaly. Laboratory investigations on the patient including studies on the parents lead to a presumptive diagnosis of homozygous Haemoglobin Lepore (Hb Lepore). The aim of this paper is to increase awareness of this rare disorder, this being the first case documented in Malaysia in a Malay. The case also demonstrates the need for this disorder to be included in the differential diagnosis of patients presenting clinically like thalassemia intermedia or thalassemia major. Accurate diagnosis would provide information necessary for prenatal diagnosis, proper clinical management and genetic counseling. The clinical, haematological and laboratory features of this disorder are discussed in this paper.
BACKGROUND: Leiomyosarcoma of the breast is a rare neoplasm. We present a case of primary leiomyosarcoma of the breast in a middle-aged female in whom fine needle aspiration cytologic features suggested sarcoma.
CASE: A 55-year-old female presented with a rapidly growing breast lump of 1 month's duration. On examination, an ulcerating, 12 x 10 cm tumor was seen involving the lower medial and lateral quadrants of the right breast. Fine needle aspiration cytology showed variably sized, dissociated and loosely clustered polygonal, plump and spindle cells with pale blue cytoplasm and vesicular nuclei that were round, oval or irregular. Occasional giant forms and nucleolated and mitotic cells were present. A single cluster of benign ductal cells was seen. The tumor cells did not express immunocytologic reactivity to estrogen receptor protein. A cytologic diagnosis of sarcoma was given with differential diagnoses of metaplastic carcinoma and malignant phyllodes tumor. Histologic study established the diagnosis of leiomyosarcoma. Leiomyosarcoma of the breast shows fine needle aspiration cytologic features of sarcoma, but specific tumor typing may not be possible, especially when the cytologic material is inadequate for ancillary staining required to distinguish leiomyosarcoma from metaplastic carcinoma and malignant phyllodes tumor.
We describe a case of a giant thrombosed intrasellar internal carotid artery aneurysm initially diagnosed as pituitary macroadenoma. The differentiating neuroimaging features were discussed.
Tuberculosis confined to the testes with no epididymal involvement is uncommon. Chronic renal failure patients requiring hemodialysis have increased risk for developing tuberculosis. We report a 47-year old chronic renal failure man presenting with right testicular tuberculous orchitis. A high index of suspicion is required to recognize the unusual presentation of tuberculosis in this group of patients, and routine screening for tuberculosis may be recommended in patients undergoing hemodialysis.
Familial hemophagocytic lymphohistiocytosis is a disorder which presents with fever, pancytopenia, liver dysfunction and also an increase in non-malignant histiocytes with prominent hemophagocytosis in various organs. It is usually difficult to distinguish from other hemophagocytic syndrome in the absence of family history. It rarely manifests in adults. Chemotherapy is usually indicated. Here, we report the occurrence of this disorder in two brothers in their twenties.
A 31 years old Chinese male with acquired immunodeficiency syndrome (AIDS) presented with concurrent mycobacterial infection and a synchronous non-Hodgkin's lymphoma of the nose. The diagnoses were made over a period of two months. Treatment for the mycobacterial infection was administered but he succumbed to the disease shortly after the diagnosis of NHL was established. This was an unusual case where two pathologies occurred in the same site in a patient with AIDS.
We describe a case of acute disseminated encephalomyelitis in a child. This case is unusual in that the illness was characterised by recurrent episodes rather than a monophasic course and that the choice of treatment was intravenous immunoglobulin over corticosteroids. The rapid and remarkable recovery is highlighted and a review of the treatment for this rare condition is discussed.
A sphenoid mucocele often presents late due to its deep-seated anatomical site. It has a varied presentation, due to its close relationship to the cavernous sinus and the base of the skull. It can present initially to the ophthalmologist with ocular complaints. In the present paper, the authors present two cases of sphenoid mucocele, one with an isolated third and one with an isolated sixth cranial nerve palsy.
Kidney biopsy is indicated to confirm the clinical diagnosis or to evaluate prognosis of a renal problem. It is a reliable and safe procedure, especially with real-time ultrasound guidance. This is a single-center, retrospective review of the biopsies performed in Hospital Tengku Ampuan Afzan, Pahang from 2000 to 2010. The demographic data, clinical parameters, and histological reports were extracted from clinic records and analyzed to determine the diagnostic adequacy of biopsy samples for both lupus and non-lupus patients. A total of 219 biopsies were performed throughout the period and only 74 were included in this review. Their mean age was 22.5 ± 10.5 years. 59.5% of the biopsies were performed on female patients. Malays comprised 79.7% (n = 59) of them, followed by Chinese (18.9%, n=14) and Indian (1.4%, n=1). About one-third of the biopsies(n = 25) were performed on patients with lupus nephritis and two-thirds (n = 49) on non-lupus nephritis patients. At the time of biopsy, their serum creatinine values were normal, serum albumin 28.4 ± 10 g/L and total cholesterol 8.9 ± 4.6 mmol/L (mean ± SD). The urine dipstick was 3+ for both proteinuria and hematuria and daily protein excretion was 3.6 ± 3.2 g. Sixty-seven specimens were considered adequate and only six (8%) were inadequate for histological interpretations. The mean number of glomeruli in the biopsy specimens was 16 ± 9.9 (range: 0-47 glomeruli). In non-lupus patients, focal segmental glomerulosclerosis was the commonest histological diagnosis (n = 15, 30.6%), followed by minimal change disease (n = 13, 26.5%) and mesangial proliferative glomerulonephritis (n = 7, 14.3%). Membranous nephropathy was diagnosed in four (8.2%) and membranoproliferative glomerulonephritis in two (4.1%) specimens. Both post-infectious glomerulonephritis and advanced glomerulosclerosis were found in one specimen each. Among the lupus nephritis patients (n = 25), 88% of them were females (P <0.05) and lupus nephritis WHO class IV was the commonest variant (n = 12, 48%) followed by WHO class III (n = 7, 28%). Membranous glomerulopathy or lupus nephritis WHO class V was found in three (12%), and two (8%) had lupus nephritis WHO class II. Serum albumin, urinalysis findings, and daily urinary protein excretion were comparable for both lupus and non-lupus patients. In conclusion, renal biopsy in our center is adequate and sufficient for histological interpretations and management of patients with renal problems.
Tuberculosis is notoriously known to be a great mimicker of other diseases and may cause various haematologic abnormalities, especially with marrow involvement. A 61-year-old man who presented with right empyema and pancytopenia was diagnosed to have disseminated tuberculosis supported by the presence of caseating granuloma with Langhan's giant cells in the marrow and demonstration of acid-fast bacilli in the pleural fluid. Trilineage dysplasia from marrow aspirate was initially attributed to be reactive to the infection. A cytogenetic study was repeated after he showed poor response to a year of anti-tuberculosis treatment. The underlying primary myelodysplastic syndrome was unmasked when his cytogenetics showed trisomy 8. This case report has demonstrated the various haematological manifestations of tuberculosis and highlighted the importance of cytogenetic study in differentiating between primary and secondary myelodysplastic marrow changes.
Vaginal vascular malformation (VVM) is rare. There are, in fact, less than ten cases reported to date. VVM often presents as a mass protruding from the vagina, mimicking pelvic organ prolapse (POP). It can coexist with POP, thereby usually exaggerating the severity of POP. We report a case of VVM in a premenopausal woman who presented as severe POP and urinary incontinence. The diagnosis was confirmed with computed tomography (CT) scan and angiography. The patient underwent conservative management with embolization. These procedures had to be repeated three times in 1.5 years due to lesion recurrence. In mitigation, conservative treatment eliminates the risks associated with surgery, e.g. massive hemorrhage and visceral injuries. It does, however, require a long course of treatment and follow-up.
Aggressive angiomyxoma is a benign soft tissue tumour usually affecting the pelvis and perineum predominantly in women. Because of its variable presentation, this tumour is often clinically misdiagnosed as liposarcoma. We describe a case of a 38-year-old woman who presented with a large perineal and gluteal mass which increased in size in one year. Ultrasound showed hypoechoic mixed solid and cystic mass. Contrasted CT and MRI examinations showed typical appearance of swirling and layering pattern. She had undergone TAHBSO as the mass was difficult to dissect intra-operatively. The post-operative specimen confirmed to be an aggressive angiomyxoma.
We report two cases of uncommon vascular lesions (Littoral cell angioma and liver haemangioma) mimicking traumatic organ injuries. The patients' histories and clinical findings of trauma were well demonstrated. Both patients had interesting CT scan features that were suggestive of solid organ injuries. However, both conditions were subsequently found to be benign incidental lesions.
This article describes a case of leptospirosis in a man who returned from caving in Sarawak, Malaysia, and includes a discussion of epidemiology, pathophysiology, diagnosis, prevention, and treatment. The patient presented with symptoms of leptospirosis, which was confirmed by microhemagglutination titers. He became infected despite taking doxycycline daily for malaria prophylaxis. Leptospirosis is an important consideration in any returned traveler with fever. The spirochete spreads from animals to humans via water. Caving in tropical endemic zones may increase exposure risk due to the combination of multiple skin abrasions with immersions. Water in caves may increase infection risk because of increased water pH. Standard prophylaxis may be inadequate in cases of high-risk exposures.
Pigmented villonodular synovitis (PVNS) is a distinct but rare clinical entity often presents late with a diagnostic difficulty. Its non-specific manifestations require exclusion of several chronic inflammatory disorders and other humorous lesions but all investigations including highly predictive magnetic resonance imaging (MRI) and arthroscopic examination are non-diagnostic demanding confirmatory tissue biopsy. A typical case of such lesion is presented to highlight some potential difficulties.
A 7-year-old girl with tonsillar infection with antibiotics. Two weeks later, there was a right sided neck lump. Computed tomography scans demonstrated a predominantly hypodense right retropharyngeal area with peripheral enhancement and mass effect. There was intense enhancement within the postero-superior aspect of the lesion which was continuous with the right internal carotid artery. Ultrasound demonstrated tapering of the right internal carotid artery. Magnetic resonance imaging and magnetic resonance arteriography showed a right internal carotid artery pseudoaneurysm. Surgical exploration confirmed the finding. This case highlights an unusual presentation of an internal carotid pseudoaneurysm and how imaging provided the diagnosis.
This is a report of the first recognized case of melioidosis in Nepal. Illness began 1 month after returning from Malaysia after a 1 y stay. The case highlights the importance of ascertaining the travel history in any patient with a suspected infectious disease in this age of global travel.
A 39-year-old patient developed a disseminated rash with scattered petechiae, fever, malaise and arthralgia after a trip to Malaysia. The patient displayed increasing dengue IgG titers and borderline dengue IgM titers. Dengue fever with a hemorrhagic course is a rare condition in adult patients. Patients who have previously had dengue fever and retained non-neutralizing heterotypic antibodies are more likely to develop this complication via the phenomenon of antibody-dependent enhancement.