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
Rhodococcus species are relatively rare human pathogens, but are being increasingly recognized as causes of infection especially in immunosuppressed patients.
BACKGROUND: Malignancies are more common in patients with systemic lupus erythematosus (SLE) than the general population. SLE patients are recognized to have higher prolactin levels. However, there are very few reported cases of SLE with pituitary adenomas.
CASE REPORT: We report the second case of a pituitary adenoma in a patient with underlying SLE. A 51 year old lady presented with blurred vision and magnetic resonance imaging of the brain demonstrated a pituitary macroadenoma with mildly elevated serum prolactin levels. The diagnosis of a non functioning pituitary macroadenoma was confirmed histologically. The diagnosis of SLE was made on the basis of thrombocytopenia, antinuclear antibodies, anti double stranded DNA antibodies and lupus nephritis (confirmed on renal biopsy). The patient initially received medical therapy with carbegoline, followed by transsphenoidal neurosurgery for the pituitary macroadenoma. SLE with lupus nephritis was treated with steroids and low dose intravenous cyclophosphamide.
CONCLUSIONS: Hyperprolactinaemia is prevalent in twenty to thirty percent of SLE patients but it is rarely due to a prolactinoma. The source of excessive circulating prolactin in SLE patients has not been fully determined.
KEYWORDS: pituitary macroadenoma; prolactin; systemic lupus erythematosus
BACKGROUND Uterine rupture is uncommon but when it happens, it can cause significant morbidity and mortality to both mother and fetus. Incidence reportedly is higher in scarred than in unscarred uteri. Most cases occur in laboring women in their third trimester with a previous history of uterine surgery, such as caesarean delivery or myomectomy. We present a case of spontaneous uterine rupture in a non-laboring uterus in the mid-trimester of pregnancy. CASE REPORT The patient presented with threatened miscarriage at 17 weeks' gestation and ultrasound findings were that raised suspicion of a morbidly adherent placenta. Her history was significant for two previous cesarean deliveries more than 5 years ago followed by two spontaneous complete miscarriages in the first trimester. The patient was managed conservatively until 20 weeks' gestation, when she presented with acute abdomen with hypotensive shock. Her hemoglobin dropped to a level such that she required blood transfusion. An emergency exploratory laparotomy was performed, which revealed a 5-cm rupture in the lower part of the anterior wall of the uterus, out of which there was extrusion of part of the placenta. Given the patient's massive bleeding, the decision was made to proceed with subtotal hysterectomy. Histopathology of the specimen confirmed the diagnosis of placenta percreta. CONCLUSIONS Identification of uterine scarring with morbidly adherent placenta is crucial because even in early pregnancy, it can lead to uterine rupture. Furthermore, failure to recognize and promptly manage uterine rupture may prove fatal.
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.
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 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 Ewing sarcoma and primitive neuroectodermal tumor are rare tumors grouped under the spectrum of the Ewing sarcoma family of tumors. These highly malignant tumors involve the bones and commonly occur in children. Ewing sarcoma of the skull bone accounts for only 1% of all Ewing sarcomas, with primary skull base Ewing sarcoma occurring in less than 1% of cases. We present a case of skull base Ewing sarcoma with complete symptom recovery and near-total radiological resolution. CASE REPORT A 4-year-old girl initially presented with a 2-month history of vomiting, poor oral intake, weight loss, and gradual visual deterioration followed by acute symptoms of fever, breathing difficulties, and seizure. Initial computed tomography and magnetic resonance imaging of the brain displayed a large sinonasal mass with extensive regional infiltration and bony destruction and no evidence of distant metastasis. A transnasal biopsy was taken. The histopathology result revealed features of skull base Ewing sarcoma. The child was given a combination of radiotherapy and chemotherapy, to which she responded well, with a minimal residual tumor. CONCLUSIONS Skull base Ewing sarcoma is a rare entity, presenting a challenge to the reporting radiologists. Differential diagnoses of esthesioneuroblastoma, olfactory neuroepithelioma, and, more commonly, sinonasal carcinoma can be misleading since they have similar radiological appearances to skull base Ewing sarcoma, which differs in treatment regimen and prognosis. Therefore, a combination of histopathological appearance, radiographic findings, and clinical correlation is important to determine the correct diagnosis, establish the appropriate treatment regime, and improve the patient's survival.
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 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 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 A rectal foreign body (RFB) can be stigmatizing for patients and present a dilemma for the treating physician. Removal can be challenging owing to the variety of objects introduced. The goals of therapy are to safely remove the RFB and to minimize injury to the bowel. CASE REPORT A 22-year-old man was referred from a district hospital to our institution after being unable to remove a self-inflicted RFB after sexual gratification. He was hemodynamically stable with a soft and nontender abdomen. A mass was felt in the suprapubic region. Abdominal radiography revealed a well-defined radiolucent object in the pelvic region, which was consistent with a lubricant bottle. No sign of bowel obstruction or perforation was observed. The RFB was successfully retrieved by a combination of transrectal digital manipulation and directed gentle abdominal pressure, allowing for descent of the RFB and transanal traction at the bedside. Various approaches have been described for removal of a RFB, from simple bedside strategies to open surgery for complicated cases. Endoscopy and minimally invasive techniques have also demonstrated a role in formulating a tailored approach. CONCLUSIONS We describe a successful retrieval of an RFB at the bedside, avoiding unnecessary open surgery.
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 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 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 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 Charm needle, otherwise known as susuk, is a needle-shaped pin inserted subcutaneously into various body parts. It is most commonly inserted by shamans in the orofacial region to grant magical powers to the wearer, such as health, wealth, beauty, and other benefits. These talismans are prevalent among women in South-East Asia countries. CASE REPORT A 75-year-old woman presented with recurrent musculoskeletal symptoms over multiple sites, but physical assessment only revealed mild tenderness over the right hip joint. A plain pelvic radiograph showed incidental findings of susuk around the genital regions, with older skull and pelvic radiograph displaying similar findings. The patient had a susuk insertion more than 20 years ago for marriage stability and beauty. After this incidental discovery, the patient had repeated visits to the clinic to request more imaging to determine whether the susuk were still present after the shaman's attempted mystical removal. She also developed persistent preoccupation, worry, and guilt related to the susuk presence and was referred to psychiatry for further assessment. She was diagnosed with generalized anxiety disorder. She was then started on psychotherapy and pharmacological treatment, with simultaneous spiritual therapy. CONCLUSIONS This case report describes the link between susuk implantation and psychological illness. Even though there are no reports that specifically correlate susuk with generalized anxiety disorder, it has been established that guilt and shame have a strong relationship with anxiety.
BACKGROUND Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and mostly affect the stomach. The size of the tumors vary, ranging from 0.6 cm to 25.5 cm, with a median size of 6.8 cm. CASE REPORT We report a case of a giant GIST (25×18×8.5 cm) in an 83-year-old woman, which we believe is the largest reported GIST, in Borneo, Malaysia. She presented with gradually increasing abdominal distension with occasional discomfort on movement for 1 month. Computed tomography revealed a large multilobulated enhancing mass measuring 10×20×22 cm with no clear plane with the posterior gastric wall, duodenum, and pancreas. We performed a distal gastrectomy and transverse colon segmentectomy, as the tumor was plastered to the mesentery of the transverse colon. Despite extensive surgery, she recovered well after surgery. Due to her advanced age and the tumor size, a tyrosine kinase inhibitor was not given owing to the possibility of adverse effects. CONCLUSIONS The management of GIST is complicated, especially for a huge GIST with local invasion. Despite the benefits of a tyrosine kinase inhibitor, the role of surgery in managing GIST is crucial, especially for patients with huge tumor size, advanced age, and local complications from the tumor.