Acquired haemophilia (AH) is a rare bleeding disorder characterized by the presence of acquired inhibitors against Factor VIII causing disruption of coagulation cascade. It has no known genetic inheritance, and diagnosis remains a challenge. The peculiar presentations are later age of onset as acute pain in weight-bearing joints and spontaneous muscle haematoma with isolated prolonged activated partial thrombin time (APTT). Prevalence is 1 per million per year affecting both genders equally where blood product transfusion is seen in almost 87% of cases. The direct cause of AH is still unknown, and autoimmune dysregulation has been postulated, which predisposes to the development of the factor inhibitors. Being extremely rare, we are reporting two consecutive patients diagnosed by unusual bleeding episodes with isolated prolonged APTT due to Factor VIII inhibitors. AH deserves a special mention as high index of suspicion is required. More studies are required to provide better guidance in diagnosis and management of this condition.
Leiomyoma is a smooth muscle tumour that can arise in any part of the body especially the uterus. Even though it is traditionally linked with hormonal influence, it can also develop in extrauterine organs with a slight female predominance. It is indistinguishable with gastrointestinal stromal tumour (GIST) histologically. We report a case of a 30-year-old gentleman who presented with a huge painful mass in the right iliac fossa. Computed tomography revealed a 10 × 10 cm homogeneous mass arising from the terminal ileum; he subsequently underwent an open right hemicolectomy. Histology showed a well-circumscribed lesion composed of interlacing bundles of smooth muscle fibres of the submucosa with positive smooth muscle actin and H-Caldesmon stains but negative for DOG-1 and CD117 (c-kit) stains which were consistent with leiomyoma. Despite its rarity, this hormone-related tumour needs to be considered regardless of gender. Immunohistochemistry is paramount as it is histologically identical to GIST.
Constrictive pericarditis is a disabling disease of the heart, which causes cardiac diastolic dysfunction. We present a case of a 44-year-old gentleman with a history of blunt chest trauma who presented with constrictive pericarditis with right-sided heart failure. Imaging studies revealed a calcified pericardium. He underwent an uneventful pericardiectomy. Calcification is common yet rare if it involves the pericardium. It normally occurs following fibrosis and adhesion which are associated with the chronicity of the disease, hence creating more challenge to the operating surgeon in the pericardiectomy procedure.
Giant coronary artery aneurysms are rare, with reported incidence of 0.02-0.2% (Morita H, Ozawa H, Yamazaki S, Yamauchi Y, Tsuji M, Katsumata T, et al. A case of giant coronary artery aneurysm with fistulous connection to the pulmonary artery: a case report and review of the literature. Intern Med. 2012; 51:1361-6.). Multiple giant aneurysms involving all three coronary arteries are even rarer. We report a rare case of multiple giant aneurysms involving the right coronary, left anterior descending and left circumflex arteries, supplemented with excellent multimodality imaging representations, i.e. plain radiograph, echocardiography, magnetic resonance imaging and computed tomography coronary angiogram.
Liver is the most common site for metastasis from colorectal cancer (CRC). Non-surgical treatment options for oligometastatic CRC confined to the liver which represents an intermediate state in the metastatic cascade are fast expanding. Currently, several liver-directed local therapeutic options are available, such as hepatic arterial infusion (HAI) therapy, radio-frequency ablation (RFA), transarterial chemoembolization (TACE), stereotactic body radiotherapy and high dose rate brachytherapy (HDRBT). Many factors such as patient's fitness, liver function (LF), tumour size, location of the tumour in the liver and scheduling of systemic therapy need to be considered when selecting patients for surgery or local liver-directed therapy. This case report illustrates a successful local treatment with staged HDRBT for a large and unresectable, liver only oligometastatic disease from CRC. This patient underwent 4 cycles of chemotherapy (FOLFOX 4) followed by primary tumour resection and first stage of HDRBT to liver for a residual 14 cm tumour after the chemotherapy. After completing a further 4 cycles of chemotherapy with the same regimen, the tumour remained stable at 8 cm. She underwent a second stage of HDRBT to the same lesion and a repeat PET-CT scan done 8 weeks after the second HDRBT showed complete metabolic response. To our knowledge, this is the largest CRC metastatic liver lesion that has been successfully treated with HDRB.
Intestinal obstruction is a common surgical emergency requiring urgent intervention. Small bowel obstruction secondary to intussusception is rarely encountered especially when inflammatory fibroid polyp (IFP) is the lead point. A 41-year-old gentleman with intestinal intussusception secondary to IFP presented to us with a classic symptom of intestinal obstruction. Computed tomography revealed a target or sausage-shaped soft tissue mass with a layering effect, which was confirmed by intraoperative findings. Histopathology was consistent with IFP and supported by immunoreactivity of CD34 and negative immunostaining for CD117. He recovered without any surgical complication or recurrence. Even intussusception can be managed via non-surgical technique in children; surgery is the mainstay of treatment in adults.
Hypertensive emergency in the paediatric population is not uncommon. However, due to its numerous etiologies, care should be taken in determining the approach of management. We report a case of a child who presented with double vision, giddiness and elevated blood pressure. Blood investigations were normal. Renal ultrasound and magnetic resonance imaging of the abdomen were performed which both showed findings suspicious of a large heterogeneous mass at the lower pole of the left kidney with dysplastic right kidney. A final diagnosis of bilateral vesicoureteric reflux with left compensatory hypertrophy was made based upon micturating cystourethrography findings and was later confirmed by 99mTc-dimercaptosuccinic acid (DMSA) study. The objective of this case is to share the importance of the appropriate choice of radiological examinations, not only in achieving an accurate diagnosis but to ensure that unnecessary investigations are avoided.
Congenital neonatal pyriform aperture stenosis (CNPAS) is a rare but potentially lethal condition that causes respiratory distress. The characteristic narrowing of the pyriform aperture along with other associated craniofacial dysmorphism is diagnosed using cross-sectional imaging such as computed tomography (CT) and magnetic resonance imaging. CT scan is the imaging of choice for confirming and characterizing CNPAS. Infants are obligate nasal breathers in the first 5 months of life. Hence, a high degree of clinical suspicion, prompt imaging diagnosis and adequate respiratory support is critical to help reduce the morbidity of this condition.
Emerging evidence suggest that COVID-19 is associated with hypercoagulability, predisposing patients to increase risk of thromboembolism. Anticoagulation is not without its risks of bleeding and decision to initiate anticoagulation should be carefully considered with close monitoring. Spontaneous retroperitoneal hematoma is a rare complication, and there are only a few documented reports implicating anticoagulant or antiplatelet agents as a potential cause. We report a 57-year-old gentleman with COVID-19 pneumonia who developed hypotension on Day 10 of illness while on prophylactic anticoagulation. Computed tomography scan of abdomen revealed a large right retroperitoneal and psoas muscle hematoma and he underwent surgical exploration to evacuate the hematoma. His condition improved and was discharged well. Although prophylactic anticoagulation may reduce thrombotic complications in severely ill COVID-19 patients, a high index of suspicion for rare bleeding complications should be maintained if patients become hemodynamically unstable. Early diagnosis and appropriate intervention may improve outcome and prevent mortality.
We present a case of disseminated Kaposi's sarcoma with both cutaneous and extracutaneous involvement in an HIV-infected patient with a relatively high CD4 count of 369 cell/mm3. He developed chronic diarrhea, constitutional symptoms, worsening bilateral pleural effusion with respiratory distress, and progression of skin lesions distributed over his chest and extremities. The temporal relationship between rapid clinical progression and initiation of HAART suggested the possibility of Kaposi's sarcoma-associated immune reconstitution inflammatory syndrome, which eventually resulted in the death of this patient.
Cervical muscles have numerous connections with vestibular, visual and higher centres, and their interactions can produce effective proprioceptive input. Dysfunction of the cervical proprioception because of various neck problems can alter orientation in space and cause a sensation of disequilibrium. Cervicogenic dizziness (CGD) is a clinical syndrome characterized by the presence of dizziness and associated neck pain in patients with cervical pathology. Here, we report a 24-year-old female, who was diagnosed with CGD based on the correlating episodes of neck pain and dizziness. Both symptoms improved with targeted chiropractic adjustment and ultrasound therapy. CGD is a seemingly simple complaint for patients, but tends to be a controversial diagnosis because there are no specific tests to confirm its causality. For CGD to be considered, an appropriate management for the neck pain should not be denied any patient.
Cancer-associated thromboembolism is not an uncommon complication in patients with malignancies. No study has reported the occurrence of thromboembolism prior to the diagnosis of acute myeloid leukemia (AML). Most reports are anectodal and data are scarce on this subject. In this report, we present a case of extensive cerebral venous thrombosis (CVT) that was detected a few weeks before the diagnosis of AML, in which case the patient responded well to chemotherapy and anticoagulation.
Limited data regarding methemoglobinemia in pregnancy, particularly secondary to dapsone is available up to date. We report a case of dapsone-induced methemoglobinemia in a pregnant mother with multibacillary leprosy who presented with fever, productive cough and cyanosis of 2 days duration 2 weeks after multidrug therapy was commenced. On examination, she had central cyanosis with low oxygen saturation (SpO2 = 84-88%). Arterial blood gas analysis showed PO2 of 111 mmHg and SO2 of 98 mmHg. Patient was administered 100% oxygen inhalation, but there was no improvement in cyanosis. Vitamin C (1000 mg/day) was prescribed. Dapsone was replaced by ofloxacin 200 mg twice daily. There was a gradual increase in SpO2 level. She delivered a healthy baby. In conclusion, clinicians should be aware of the side effects of dapsone and know how to promptly manage any undesirable events. Ofloxacin is a safe and feasible alternative in replacement of dapsone in pregnancy.
Infective endocarditis can result in potentially fatal complications such as heart failure, systemic embolization, mycotic aneurysm and neurological complications. Staphylococci and streptococci are the most common causative agents of infective endocarditis, with Streptococcus gordonii being a rare cause. We present a case of infective endocarditis in a young patient who presented with an acute abdomen 2 months after being diagnosed with cerebrovascular accident. An abdominal computed tomography revealed superior mesenteric artery thrombosis, and infarct in the right kidney and spleen as a result of systemic septic embolism. Echocardiography showed numerous vegetations at the aortic and mitral valves. Infective endocarditis was diagnosed based on echocardiographic findings and positive blood cultures for S. gordonii. He was treated with intravenous benzylpenicillin and was also referred for surgical intervention.
Capsular warning syndrome is a rare presentation of transient ischaemic attack, which described as recurrent episodes of motor and/or sensory deficits which typically sparring the cortical function. It has a significant risk to progress into a massive stroke with permanent disability, thus important to be recognise early. Here, we report a middle-age gentleman with no known medical illness presented with eight episodes of transient ischaemic attack within the span of 24 h. He was treated with double anti-platelet for 21 days and was not subjected to thrombolysis at time of presentation because it was outside the window period of 4.5 h, and has fully recovered after each episode. The purpose of this case report is to share the uncommon clinical presentation of transient ischaemic attack, which is still not fully understood and warrant more studies especially on the treatment that can affect the progression of the disease.
Scurvy is a rare nutritional deficiency, particularly in developed nations. Sporadic cases are still reported, particularly among alcoholics and malnourished. Herein we present an unusual case of a previously healthy 15-year-old Caucasian girl, who was recently hospitalized for low velocity spine fractures, back pain and stiffness over several months and rash for 2 years. She was later diagnosed with scurvy and osteoporosis. Dietary modifications were instituted together with supplementary vitamin C, supportive treatment with regular dietician review and physiotherapy. Gradual clinical recovery was seen over the course of therapy. Our case highlights the importance of recognizing scurvy even among low-risk populations to ensure prompt and effective clinical management.