BACKGROUND Breast squamous cell carcinoma (SCC) is a subtype of metaplastic breast carcinoma (MBC), which is a rare malignancy and accounts for 0.1% of all invasive breast carcinomas. Guidelines on definitive management and treatment of breast SCC are not well established, given its rarity and diverse immunohistochemistry (IHC) profile, and lack of clinical data. Most cases of breast SCC are triple-negative breast cancer - negative for estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). This case report outlines the clinicopathological profile of a pure breast SCC case with a rare IHC profile; HER2 and ER positive. CASE REPORT A 41-year-old woman presented with a right breast mass that had been growing for 2 months. Biopsy confirmed breast SCC, a rare malignancy with IHC profile as follows: HER2 overexpression, ER positive, and PR negative. She underwent neoadjuvant chemotherapy for 3 months followed by right mastectomy with axillary clearance, adjuvant radiotherapy, and oral tamoxifen therapy. Unfortunately, she did not receive anti-HER2 therapy. She developed early locoregional recurrence at 2 months postoperatively, which was treated with excision of the right chest wall and transverse rectus abdominis musculocutaneous (TRAM) flap. She developed liver and lung metastasis and succumbed to her disease at 15 months post-diagnosis. CONCLUSIONS Breast SCC is a rare and aggressive tumor with heterogeneous clinicopathological features. Available guidelines do not outline the definitive treatment for breast SCC, given its rarity and heterogenous IHC profile, leading to a general lack of clinical data. Hence, due to the challenges in managing this rare condition, treatment modalities need to be individualized.
BACKGROUND Melioidosis is a rare tropical bacterial infection caused by the Gram-negative soil saprophyte, Burkholderia pseudomallei. Melioidosis can mimic a variety of diseases due to its varied presentation, and unless it is treated rapidly, it can be fatal. A rare case of melioidosis, with pericarditis and pericardial effusion, is described, which demonstrates the value of early diagnosis with echocardiography and pericardiocentesis. CASE REPORT A 38-year-old native (Iban) East Malaysian man presented with shortness of breath and tachycardia. Transthoracic echocardiography (TTE) showed cardiac tamponade. Urgent pericardiocentesis drained a large amount of purulent pericardial fluid that grew Burkholderia pseudomallei. Despite appropriate dose and duration of intravenous treatment with ceftazidime followed by meropenem, the patient developed recurrent pericardial effusion and right heart failure due to constrictive pericarditis. The diagnosis of constrictive pericarditis was confirmed by computed tomography (CT) and surgical exploration. Following pericardiectomy, his symptoms resolved, but patient follow-up was recommended for possible sequelae of constrictive pericarditis. CONCLUSIONS After the onset of melioidosis pericarditis, the authors recommend follow-up and surveillance for possible complication of constrictive pericarditis.
BACKGROUND Dermal fillers are increasingly used for medical and aesthetic purposes in clinical practice. Common complications following filler injections include bruising, itching, infections, allergic reactions, and tissue necrosis. This case is the first report of Herpes simplex virus type 1 (HSV-1) encephalitis as a possible complication of dermal filler injection. CASE REPORT A 27-year-old woman with no past medical history presented with altered mental state, headaches, and seizures. She had a nasal dermal filler injection for aesthetic purpose five weeks before her acute presentation. A diagnosis of HSV-1 encephalitis was made based on brain imaging with computed tomography and magnetic resonance imaging (MRI) findings that showed bilateral frontotemporal lobe hyperintensity. Analysis of her cerebrospinal fluid (CSF) confirmed the presence of HSV-1 DNA. Despite anti-viral treatment with acyclovir, she developed postencephalitic syndrome. CONCLUSIONS This case report highlights the possibility that among the complications of the use of cosmetic dermal fillers, the transmission of HSV-1 and the development of HSV-1 encephalitis should be recognized.
BACKGROUND This case illustrates the challenges in diagnosing linear scleroderma (LS) in a child who presented to a primary care setting. Diagnosis of LS is easily missed due to the lack of prominent symptoms, subtle visible skin changes, and under-recognition of this condition. CASE REPORT A 7-year-old boy presented with a linear, painless, non-itchy rash at the center of his forehead, which has been present for 6 months. The rash extends vertically from the hairline to the bridge of the nose. The color gradually evolved from reddish to purplish-grey and shiny within 3 months. He had underlying eczema, allergic rhinitis, and allergic conjunctivitis since birth. His condition remained unrecognized despite consultations with various medical specialties, including family medicine specialist, ophthalmologist, otorhinolaryngologist, and a general pediatrician. Six months after the onset of his lesion, he was subsequently referred to a pediatric dermatologist and pediatric rheumatologist, who made the diagnosis of LS. Laboratory investigations for autoimmune disease showed that negative antinuclear antibodies (ANA) and inflammatory markers, including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), were normal. Skin biopsy provided a tissue confirmation of the diagnosis. MRI of the lesion showed no extension into the underlying muscle or bone erosions. The patient was initially treated with intravenous (IV) methylprednisolone for 3 days, followed by oral methotrexate weekly and prednisolone. The lesion improved after 1 month of treatment, and after 15 months it was less pigmented and less noticeable. CONCLUSIONS LS is the commonest form of localized scleroderma in children. LS on the forehead can erode into the underlying tissues and is sometimes associated with extensive hemifacial atrophy. Treatment should be instituted early to prevent late irreversible fibrotic sequelae. This report aims to highlight the importance of early diagnosis and treatment of an uncommon but potentially disfiguring condition.
BACKGROUND Adnexal torsion is a gynecologic emergency that dictates immediate surgical intervention. Twisted ovarian cysts are rare in adolescents, but they can cause significant distress to patients. Idiopathic ovarian torsion is uncommon in adolescents and the incidence is reportedly higher in women aged 20 to 40 years. Most twisted cysts in adolescents are benign. In the past, oophorectomy was commonly performed for a torsed ovary, but currently there is a trend toward ovary preservation. The diagnosis of twisted ovarian cyst is based on pathognomonic symptoms and findings from a focused clinical examination and ultrasound. Because the differential diagnosis includes acute appendicitis and gastroenteritis, referral to a gynecologist may be delayed. CASE REPORT We present the case of a huge, twisted ovarian cyst in a 16-year-old girl who presented with an acute abdomen. The initial diagnosis was acute appendicitis, which delayed her referral to a gynecologist. An emergency laparotomy and left salpingo-oophorectomy were performed. The histopathology of the ovarian cyst was reported as serous cystadenoma. CONCLUSIONS The optimal management of a twisted ovarian cyst in adolescents is the subject of much debate. Here, we review the literature on ovarian torsion in children and adolescents. The patient in the case we present had a twisted ovarian cyst that was managed with salpingo-oophorectomy.
BACKGROUND Tarlov cysts are rare, with a prevalence of 3.3% in the Asian population, and symptomatic cases are even rarer. Here, we report a case of a young woman with multiple Tarlov cysts presenting in primary care with severe low back pain. CASE REPORT A 23-year-old Malay woman presented to a primary care clinic with sudden-onset, severe, and persistent low back pain for 1 week, affecting her activities of daily living (ADL), especially as a medical student, as she could not stand for more than 10 minutes. There were no other associated symptoms or recent trauma prior to the onset of back pain. Examinations revealed para-vertebrae muscle tenderness and restricted movements at the L4/L5 lumbosacral spine. A plain radiograph of the lumbosacral spine showed sclerosis and erosion of the right pedicle at the L4/L5 levels. Tuberculosis and haematological tests were normal. A lumbosacral MRI of the spine was ordered and the patient was urgently referred to the orthopaedic spine team. The MRI confirmed the diagnosis of multiple Tarlov cysts, with the dominant cyst located at the S2 level. Her symptoms and ADL improved with conservative management. She is being monitored closely by the orthopaedic team and primary care physician. CONCLUSIONS This case highlights red flag symptoms, ie, sudden-onset, severe, and persistent low back pain, that warrant further investigation. Tarlov cysts should be considered as a differential diagnosis. Close monitoring is vital and early surgical intervention is indicated if symptoms worsen, to prevent potential irreversible nerve damage.
BACKGROUND Acquired hemophilia is a rare but potentially dangerous bleeding disorder caused by autoantibodies against coagulation factors. It affects 1 to 1.5 per 1 million people each year. While 50% of cases could be idiopathic, other causes include malignancies, diabetes, pregnancy, infection, and autoimmune disorders. CASE REPORT We report a case of a 90-year-old male who developed a spontaneous hematoma on the dorsum of his right hand, with no prior history of trauma or any other mucosal bleeding. His activated partial thromboplastin time (aPTT) was found to be prolonged (>180 seconds) with a very low level of factor VIII (0.1%). CONCLUSIONS As workups did not identify the source, including malignancy and autoimmune diseases, of his acquired hemophilia, it is believed to be idiopathic. He was started on intravenous recombinant factor VIIa (NovoSeven) to control the bleeding in combination with an immunosuppressive therapy of cyclophosphamide and prednisolone. In approximately 10% of patients with acquired hemophilia, underlying malignancy, such as squamous cell cancer, chronic lymphocytic leukemia, non-Hodgkin lymphoma, and multiple myeloma can present and commonly develop in elderly patients. Therefore, patients diagnosed with idiopathic acquired hemophilia should be given long-term follow up.
BACKGROUND: Hypercalcemia is common in primary hyperparathyroidism malignancies and even in tuberculosis. Interestingly, systemic lupus erythematosus (SLE) rarely presents with hypercalcemia.
CASE REPORT: We describe an interesting case of SLE in a patient who was otherwise thought to have either tuberculosis or a malignancy. The patient initially presented with feeling unwell, with generalized lymphadenopathy, bilateral pleural effusion, and bilateral corneal calcium deposits secondary to severe hypercalcemia. The diagnosis of SLE was made based on positivity of antinuclear antibodies (ANA) and anti-dsDNA, the presence of serositis, lymphadenopathy, autoimmune hemolytic anemia, and constitutional symptoms. She was treated with steroids, with tremendous improvement in her general well-being, resolution of lymphadenopathy and pleural effusion, and normalization of her hemoglobin and serum calcium. The atypical presentation of SLE with hypercalcemia with pleural effusion is discussed.
CONCLUSIONS: SLE should be one of the differential diagnoses in patients presenting with severe hypercalcemia.
KEYWORDS: atypical presentation; hypercalcemia; systemic lupus erythematosus
BACKGROUND In Malaysia, the prevalence of genetically confirmed heterozygous familial hypercholesterolemia (FH) was reported as 1 in 427. Despite this, FH remains largely underdiagnosed and undertreated in primary care. CASE REPORT In this case series, we report 3 FH cases detected in primary care due to mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein-B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. The mutations in case 1 (frameshift c.660del pathogenic variant in LDLR gene) and case 2 (missense c.10579C>T pathogenic variant in APOB gene) were confirmed as pathogenic, while the mutation in case 3 (missense c.277C>T mutation in PCSK9 gene) may have been benign. In case 1, the patient had the highest LDL-c level, 8.6 mmol/L, and prominent tendon xanthomas. In case 2, the patient had an LDL-c level of 5.7 mmol/L and premature corneal arcus. In case 3, the patient had an LDL-c level of 5.4 mmol/L but had neither of the classical physical findings. Genetic counseling and diagnosis were delivered by primary care physicians. These index cases were initially managed in primary care with statins and therapeutic lifestyle modifications. They were referred to the lipid specialists for up-titration of lipid lowering medications. First-degree relatives were identified and referred for cascade testing. CONCLUSIONS This case series highlights different phenotypical expressions in patients with 3 different FH genetic mutations. Primary care physicians should play a pivotal role in the detection of FH index cases, genetic testing, management, and cascade screening of family members, in partnership with lipid specialists.
BACKGROUND Leprosy is an infection caused by Mycobacterium leprae. An extensive literature search did not reveal many reports of melioidosis in association with leprosy. CASE REPORT A 22-year-old woman, who was diagnosed with multibacillary leprosy, developed dapsone-induced methemoglobinemia and hemolytic anemia, complicated by melioidosis. Methemoglobinemia was treated with methylene blue and vitamin C. Two weeks of ceftazidime was initiated to treat melioidosis, and the patient was discharged on amoxicillin/clavulanic acid and doxycycline as melioidosis eradication therapy. However, she developed drug-induced hypersensitivity. Trimethoprim/sulfamethoxazole, as an alternative treatment for melioidosis eradication, was commenced and was successfully completed for 12 weeks. During the fifth month of multidrug therapy, the patient developed type II lepra reaction with erythema nodosum leprosum reaction, which was treated with prednisolone. Leprosy treatment continued with clofazimine and ofloxacin, and complete resolution of skin lesions occurred after 12 months of therapy. CONCLUSIONS Our case highlighted the challenges posed in managing a patient with multibacillary leprosy with multiple complications. Clinicians should be aware that dapsone-induced methemoglobinemia and hemolysis might complicate the treatment of leprosy. Our case also highlighted the safety and efficacy of combining ofloxacin and clofazimine as a leprosy treatment regimen in addition to gradual steroid dose titration in the presence of type II lepra reaction.
BACKGROUND Dengue-associated neurological manifestations have recently been on the rise. Cerebellar syndrome complicating dengue fever has rarely been reported in the literature. We present a case report of dengue-associated cerebellar syndrome and performed a literature review to draw attention to this rare neurological complication. CASE REPORT A 60-year-old man presented with 4 days of fever, myalgia, arthralgia, headaches, and warning symptoms (persistent diarrhea and vomiting). He was admitted with serologically-confirmed dengue fever. He had been well until day 8 of illness, when he developed cerebellar signs and symptoms. The temporal relationship with the recent dengue fever suggested that he had dengue cerebellitis. He recovered well, with no neurological sequelae upon our clinic visit. CONCLUSIONS Dengue cerebellitis is a rare but recognized manifestation, which should be considered in patients from endemic areas of dengue fever who develop cerebellar syndrome.
BACKGROUND Tuberculosis is prevalent, especially in low-income countries. The most devastating manifestation of tuberculosis is central nervous system (CNS) involvement, albeit rare. CASE REPORT We report a rare case of a 26-year-old woman with morbid obesity and hepatitis C who had cerebral tuberculoma and was treated with an extended duration of anti-tuberculosis multi-drug therapy. This patient was initially diagnosed with disseminated tuberculosis of the lungs, liver, and peritoneum. After 4 months of anti-tuberculosis treatment, she developed new right temporal hemianopia and new cerebral tuberculoma, which was identified on repeated magnetic resonance imaging (MRI) and was attributed to tuberculosis-immune reconstitution inflammatory syndrome. The anti-tuberculosis treatment was continued; however, she gained large amounts of weight, which resulted in the failure of the anti-tuberculosis treatment of the cerebral tuberculoma. We decided to adjust the anti-tuberculosis drug dosage using her total body weight, and she responded well, with a decrease in size of the cerebral tuberculoma. The anti-tuberculosis treatment was subsequently stopped after 3 years because of clinical and imaging improvement. CONCLUSIONS This case illustrates the challenges faced in the treatment of cerebral tuberculoma, which, in this case, included a high body mass index affecting drug dosage and confounding an inadequate treatment response as seen on interim MRI, resulting in prolonged duration of anti-tuberculosis treatment. Persistent enhancement seen on brain MRI does not equate to treatment failure.
BACKGROUND Trichoblastoma is a rare, benign, cutaneous adnexal neoplasm arising from rudimentary hair follicles. The incidence and prevalence in the general population is unknown. However, most cases occur in adults aged 40 years and older. CASE REPORT A 62-year-old woman presented to our primary care clinic for a hypertension and diabetes followup visit. The doctor, who had never seen the patient before, noticed several small lumps over the patient's eyebrows. After she removed her headscarf and face mask for a thorough examination, numerous skin-colored papules and nodules were seen on her nose, nasal bridge, forehead, and around her eyebrows. She was referred to a dermatologist, and a skin biopsy showed well-circumscribed dermal nests of basaloid cells, with peripheral palisading, and keratin horn cysts surrounded by dense fibrous stroma. These features were consistent with trichoblastoma. She was then referred to a plastic surgeon to discuss further management options. The patient finally chose laser ablation as she was fearful of the other more invasive surgical options. CONCLUSIONS This is a very rare case of extensive facial trichoblastoma. It highlights the need for clinicians to ensure optimal exposure when examining patients. It also highlights the role of biopsies for skin lesions of uncertain etiology. In this case, it helped to rule out basal cell carcinoma, which can be a more locally destructive condition than trichoblastoma. This case also serves as a reminder about the need for ongoing review and referral for further management for conditions for which previous treatment was unsuccessful.
BACKGROUND No cases of Fabry disease (FD) have been reported thus far in Malaysia. We aimed to report the demographic characteristics, clinical manifestations, molecular results, and treatment outcomes of 2 FD cases. This study was a retrospective review of 2 family clusters of FD on follow-up in Sarawak, Malaysia. CASE REPORT Two index patients were confirmed to have FD. Index patient 1, who had nephrotic-range proteinuria and cornea verticillata, carried a variant within exon 4 of the GLA gene: c.610 T>C (p.Trp204Arg). Agalsidase beta (Fabrazyme®) enzyme replacement therapy was initiated, with the absence of neutralizing antibody after 24 months. No hypersensitivity or adverse reactions were reported. The patient's proteinuria and renal function remained stable. Other family members who carried the same mutation were asymptomatic. Index patient 2, who had residual activity of alpha-galactosidase A and a normal globotriaosylsphingosine level, carried a novel GLA mutation of c.548-5T>A. He was diagnosed with end-stage renal disease on regular dialysis and had nonspecific headache with 1 episode of seizure a few years prior to FD genetic screening. One brother had chronic neuropathic pain but refused further investigations. Other family members who had the same mutation were asymptomatic. This mutation has never been reported in literature, and its pathogenicity warrants further studies. CONCLUSIONS It is of utmost importance to increase awareness of FD among clinicians, so that appropriate screening may be done to determine its true prevalence and prompt treatment can be initiated early.
BACKGROUND Intradiverticular bladder tumors are rare. This renders diagnosis of an intradiverticular bladder tumor difficult. Imaging plays a vital role in achieving the diagnosis, and subsequently staging of the disease. CASE REPORT A 74-year-old male presented to our center with a few months history of constitutional symptoms. Upon further history, he reported hematuria two months prior to presentation, which stopped temporarily, only to recur a few days prior to coming to the hospital. The patient admitted to having lower urinary tract symptoms. However, there was no dysuria, no sandy urine, and no fever. Palpation of his abdomen revealed a vague mass at the suprapubic region, which was non tender. In view of his history and the clinical examination findings, an ultrasound of the abdomen and computed tomography (CT) was arranged. These investigations revealed a giant tumor that seemed to be arising from a bladder diverticulum, with a mass effect and hydronephrosis. He later underwent operative intervention. CONCLUSIONS Intradiverticular bladder tumors may present a challenge to the treating physician in an atypical presentation; thus requiring a high index of suspicion and knowledge of tumor pathophysiology. As illustrated in our case, CT with its wide availability and multiplanar imaging capabilities offers a useful means for diagnosis, disease staging, operative planning, and follow-up.
BACKGROUND Herpes zoster is a condition in which there is reactivation of varicella zoster virus (VZV), which is usually seen in the elderly and those with immunocompromised states. Recently, however, there have been many reports of herpes zoster after administration of COVID-19 vaccines, although initial trials showed that these vaccines have good safety and immunogenicity profiles. At the time of writing, about 5 billion people worldwide had received their full course of COVID-19 vaccination. This case report describes an elderly man who developed herpes zoster after receiving a booster dose of the Pfizer-BioNTech (BNT162b2) vaccine, with no adverse effects after the first and second dose. CASE REPORT An 82-year-old man with underlying type 2 diabetes mellitus, hypertension, dyslipidemia, and cerebrovascular disease presented with left-sided chest and upper back pain. The pain was intermittent, burning in nature, and disturbed his sleep. A week prior to his presentation, he received a COVID-19 vaccine (BNT162b2) booster dose. Examination revealed multiple vesicles along his anterior and posterior T3 dermatome. He was diagnosed with herpes zoster and treated with a course of oral acyclovir. Upon review 7 days later, he had recovered well, with resolution of his vesicles and pain. CONCLUSIONS COVID-19 vaccination remains an important measure to prevent transmission of infection and to reduce the mortality and morbidity caused by it. However, healthcare practitioners should be aware of the possible association between COVID-19 vaccination and herpes zoster. Appropriate explanation and safety advice on the possible adverse events following COVID-19 vaccination, including herpes zoster infection, should be given to patients. This will facilitate early recognition and treatment of this condition.
BACKGROUND The esophagus can be affected by a variety of disorders that may be primary or secondary to another pathologic process, but the resulting symptoms are usually not pathognomonic for a specific problem, making diagnosis and further management somewhat challenging. High resolution impedance manometry (HRiM) has established itself as a valuable tool in evaluating esophageal motility disorder. HRiM is superior in comparison with conventional water perfused manometric recordings in delineating and tracking the movement of functionally defined contractile elements of the esophagus and its sphincters, and in distinguishing the luminal pressurization of spastic esophageal contraction from a trapped bolus. Making these distinctions can help to identify achalasia, distal esophageal spasm, functional obstruction, and subtypes according to the latest Chicago Classification of Esophageal Motility Disorders version 3.0. CASE REPORT We report a case series of 4 patients that presented with dysphagia; and with the ancillary help of the HRiM, we are able to diagnose esophageal motility disorder and evaluate its pathogenetic mechanism. This approach aids in tailoring each management individually and avoiding disastrous mismanagement. CONCLUSIONS From the series of case reports, we believe that HRiM has an important role to play in deciding appropriate management for patients presenting with esophageal motility disorders, and HRiM should be performed before deciding on management.
BACKGROUND Good syndrome (thymoma with immunodeficiency) is a frequently missed and forgotten entity. It is a rare cause of combined B and T cell immunodeficiency in adults. To date, fewer than 200 patients with Good syndrome have been reported in the literature. CASE REPORT We report a case of type AB Masaoka-Koga stage I thymoma which predated the evidence of immune dysregulation by 5 years, manifesting as bilateral cytomegalovirus retinitis, multiple bouts of pneumonia, and bronchiectasis in a HIV-seronegative 55-year-old man. Intravitreal ganciclovir was administered in addition to intravenous systemic ganciclovir, which resulted in severe neutropenic sepsis. A thorough immunodeficiency workup confirmed the presence of hypogammaglobulinemia with complete absence of B cells and reduced CD4/CD8 ratio. The patient responded well to monthly intravenous immunoglobulin replacement therapy, with no further episodes of infection since then. The immunoglobulin level doubled after 1 year of treatment. However, as the patient refused further intravitreal and CMV-targeted treatment, his vision did not recover. CONCLUSIONS Clinicians should be aware that thymoma can precede the onset of immunodeficiency. Clinical suspicion should be heightened in at-risk patients who present with multiple bouts of infection, particularly in thymoma cases with adult-onset immune dysfunction. It is of paramount importance to follow up those patients with annual clinical reviews and immunodeficiency screening.
BACKGROUND Myasthenic crisis is a condition characterized by the sudden onset of myasthenic weakness involving the respiratory muscles and requires ventilatory support to prevent death. This is a case report of respiratory failure in a 43-year-old man as the first presentation of myasthenia gravis. CASE REPORT A 43-year-old man with underlying hypertension and a lacunar stroke with good muscle-power recovery presented with severe community-acquired pneumonia, complicated with respiratory failure requiring invasive ventilatory support. He responded well to the intravenous antibiotic therapy and after 1 week of treatment, he was hemodynamically stable and his septic parameters improved. However, he persistently failed to maintain adequate spontaneous respiratory effort after the removal of the ventilatory support and had to be reintubated multiple times. There was no other identifiable cause for the worsening respiratory failure. He had no clinical features or muscle weakness suggestive of myasthenia gravis. However, his blood test was positive for serum anti-acetylcholine receptor antibodies and repetitive nerve stimulation tests showed the characteristic decremental response of compound muscle action potential amplitude, in keeping with the diagnosis of myasthenia gravis. He responded well to intravenous immunoglobulin and was discharged with anticholinesterase inhibitors and long-term immunosuppression therapy. CONCLUSIONS This report demonstrates that when patients are admitted to the hospital with acute respiratory failure without any underlying pulmonary disease and with weakness of the respiratory muscles, the diagnosis of myasthenia gravis presenting with a myasthenic crisis should be considered.