PRESENTATION OF CASE: We report the first case of Blue Rubber Bleb Nevus Syndrome in Malaysia, a 23 years old Malay girl who suffers from multiple cutaneous venous malformation and gastrointestinal bleeding episodes.
DISCUSSION: The typical morbidity for this syndrome is symptomatic anemia due to secondary iron deficiency due to the gastrointestinal venous malformation bleeding. In managing the gastrointestinal bleeding, it mainly depends on the severity of gastrointestinal bleeding, some may resolve spontaneously, while the others may be needing blood transfusion, and some may require GIT resections. As for cutaneous lesions, normally it is innocuous depending on the region and size. Large or problematic cutaneous venous malformation might benefit from sclerotherapy or excision.
CONCLUSION: Multidisciplinary approach is crucial in managing BRBNS case due to its complexity and the spectrum of multiple organ involvement to ensure the best outcome to the patient.
Materials and Methods: The coagulometer for factor VIII assay is Sysmex CS-5100. All data were expressed as mean ± standard deviation (SD).
Results: A total of 135 cases were studied. Of these, 100 cases were of mild hemophilia A diagnosed by molecular genetics and, 15 cases were positive for LAC, which were confirmed by dilute Russell Viper venom test. Clot-based one-stage APTT assay showed 65% sensitivity and 80% specificity in diagnosing mild hemophilia A cases and out of 15 LAC cases, it showed false positivity in five cases. Chromogenic assay showed 85% sensitivity and 90% specificity in diagnosing mild hemophilia cases and was 100% specific in excluding LAC cases.
Conclusions: One-stage APTT assay is the most commonly used test for determining factor VIII levels but chromogenic assay are considered as the gold standard and recommended as the reference method by European Pharmacopoeia and ISTH subcommittee. Mild hemophilia A patients with missense mutations show discrepancy between the one-stage clot-based APTT assay and chromogenic assays for determination of factor VIII level and this can lead to misdiagnosis or misclassification of mild hemophilia A. Therefore, it is recommended that both the assays should be used in the evaluation of mild hemophilia cases.
CASE REPORT: A 21-year-old man who presented with chronic isolated bilateral pinna swelling as a result of leprosy is reported. The bilateral pinna swelling started as multiple shiny papules with an erythematous background and progressively became hyperpigmented and lobular over two years. This rare presentation of leprosy poses initial diagnostic difficulties, leading to misdiagnoses by various health care professionals. Diagnoses ascribed include eczema, insect bite and perichondritis. A suspicion of leprosy was raised when hyperaesthetic hypopigmentation of skin started to appear on the body after two years, with worsening of the pinna swellings. This was confirmed by identification of Mycobacterium leprae in slit skin smear test and skin biopsy.
CONCLUSION: Isolated involvement of pinna in a patient without lesions in other body parts is an unusual initial presentation of leprosy. However, leprosy should be kept as a rare differential diagnosis of isolated lesions on the ear in patients not responding to conventional treatment.
CASE PRESENTATION: A 59-year-old man of Chinese ethnicity presented to our hematology unit with headache, lethargy, and exertional dyspnea for the past 1 month. He underwent an uneventful cadaveric renal transplant 20 years ago for chronic glomerulonephritis-induced end-stage renal disease. He had been on long-term immunosuppressants since then consisting of orally administered prednisolone 10 mg daily and orally administered cyclosporine A 50 mg twice daily. On examination, he was pale with a palpable liver and spleen. He had a functioning renal graft. Marrow flow cytometry confirmed T-prolymphocytic leukemia with lymphocytes expressing CD2, CD3, CD7, CD52, and TCL-1. His human T-cell lymphotropic virus and Epstein-Barr virus serology and deoxyribonucleic acid (DNA) were negative. He was treated with one cycle of cyclophosphamide, doxorubicin, vincristine, and prednisone chemotherapy to which he failed to respond. In view of his renal allograft, he was not suitable for alemtuzumab due to the risk of nephrotoxicity. He was given orally administered venetoclax but he died on day 17 due to severe auto tumor lysis syndrome.
CONCLUSION: The place of immunophenotyping in the diagnosis and treatment of this disorder is of significant importance. More research needs to be carried out to further comprehend the pathophysiology and treatment modalities for this disorder.
CASE PRESENTATION: We report a case of a middle-aged lady who presented with severe pain and morning stiffness over the small joints of the left hand for 3 months and painless deformity of the affected joints 1 year before. She was under treatment for pruritic rash over her ankles and knees for the past 1 year as well. Physical examination revealed a fixed flexion deformity, swelling and tenderness of the left ring and little fingers' distal interphalangeal (DIP) joints. Left hand radiograph showed sclerotic joint margin, narrowed joint space and marginal osteophytes of the affected DIP joints. Dermoscopic examination showed red- violaceous, flat-topped papules and plaques with minimal scales on both ankles; hyperpigmented scaly plaques over both knees and vertical fingernail ridges. Serum autoimmune screening and inflammatory markers were unremarkable. Left ankle skin biopsy showed features consistent of psoriasis. PsA was diagnosed. Weekly titrated oral methotrexate and topical steroid were started. The patient showed significant improvement after 1 month of treatment.
CONCLUSION: PsA is a great mimicker. Dermoscopy is an accessible and valuable tool to assess skin lesions in greater detail. Clinicians should be aware of coexisting diseases or misdiagnosis when patients do not respond to treatment.
METHODS: An exploratory review of past literatures on the usage of ultrasound technique in the diagnosis of acute appendicitis in adult patients, and the role of other imaging techniques were undertaken for the study.
RESULTS: The gold standard for the diagnosis of acute appendicitis still remains a histopathological confirmation after appendectomy. The study further shows imaging has high diagnostic accuracy in the diagnosis of acute appendicitis with low rate of negative appendectomy (<10%). Multiple reasons are identified, including the introduction of computed tomography imaging especially in those patients where ultrasound was unequivocal, more education on imaging which leads to better operator skill or improved performances of machines.
CONCLUSION: Imaging undoubtedly plays an important role in the diagnosis of acute appendicitis with ultrasound remaining the first-line method in patients referred with clinically suspected acute appendicitis. Nevertheless, those with borderline ultrasound findings or unable to visualize appendix on ultrasound with highly suspicious sign and symptoms were offered other imaging modalities such as CT scan.
RECOMMENDATION: It is recommended that the managing team balance the risk of radiation exposure, risk of delay in urgent operation and risk of perforation prior to a decision.
OBJECTIVE: The current review was aimed to present a comprehensive overview and critical appraisal of majorly employed neuroimaging techniques for rational diagnosis and effective monitoring of effectiveness of employed therapeutic intervention for NPH. Moreover, a critical overview of recent developments and utilization of pharmacological agents for treatment of hydrocephalus has also been appraised.
RESULTS: Considering the complications associated with the shunt-based surgical operations, consistent monitoring of shunting via neuroimaging techniques hold greater clinical significance. Despite having extensive applicability of MRI and CT scan, these conventional neuroimaging techniques are associated with misdiagnosis or several health risks to patients. Recent advances in MRI (i.e., Sagittal-MRI, coronal-MRI, Time-SLIP (time-spatial-labeling-inversion-pulse), PC-MRI and diffusion-tensor-imaging (DTI)) have shown promising applicability in diagnosis of NPH. Having associated with several adverse effects with surgical interventions, non-invasive approaches (pharmacological agents) have earned greater interest of scientists, medical professional, and healthcare providers. Amongst pharmacological agents, diuretics, isosorbide, osmotic agents, carbonic anhydrase inhibitors, glucocorticoids, NSAIDs, digoxin, and gold-198 have been employed for management of NPH and prevention of secondary sensory/intellectual complications.
CONCLUSION: Employment of rational diagnostic tool and therapeutic modalities avoids misleading diagnosis and sophisticated management of hydrocephalus by efficient reduction of cerebrospinal fluid (CSF) production, reduction of fibrotic and inflammatory cascades secondary to meningitis and hemorrhage, and protection of brain from further deterioration.