Journal of Clinical Case Reports

We experienced a case of Systemic Lupus Erythematosus (SLE) with myelofibrosis and hemophagocytosis. Recently, it has become clear that hemophagocytosis can occur with autoimmune diseases, including SLE. By contrast, myelofibrosis is a rare complication of SLE, and only ten cases have been reported. The mechanism by which myelofibrosis complicates SLE remains unknown. There are several theories: myelofibrosis may result from microvasculitis in the marrow or the unusual release of cytokines. Myelofibrosis accompanying SLE appears to be reversible with immunosuppressive therapy, although primary myelofibrosis is not. This suggests that the pathogenesis of myelofibrosis with SLE is quite different from that of primary myelofibrosis. This is the first report of SLE accompanied by myelofibrosis and hemophagocytosis. In our cases, serum TGF-β was elevated remarkably. Our case indicated that in the process of hemophagocytosis, activated macrophages produce monokines, such as TGF-β, which sequentially induce myelofibrosis. Hemophagocytosis may predispose SLE patients to myelofibrosis.

This case describes a patient with amaurosis fugax as a result of non-traumatic internal carotid dissection. Typical symptoms of monocular blindness, especially in the setting of headache or neck pain should prompt evaluation for carotid dissection. Initial presentation with transient vision loss, lasting thirty minutes with a normal ophthalmic exam should raise suspicion for transient ischemic attack as well as carotid dissection. Symptoms may progress with resultant cerebral infarction as the dissection progresses. Carotid ultrasound with notable decreased internal carotid artery velocity prompts CT angiography of the neck confirming the carotid dissection. Anti-platelet therapy is the first line treatment, with anticoagulation reserved for cases of recurrent, progressive symptomatic episodes.

Sildenafil, a medication for treatment of erectile dysfunction, is commonly used these days. Its side effect in nervous system such as seizure and myoclonus are known to be rare. A 74-year old man developed multifocal myoclonus 12 hours after taking sildenafil. Electroencephalography (EEG) showed spike discharges and on the other day. The symptom resolved two days after, and spike discharges on EEG also disappeared. 8 years before, he had experienced the same symptom after taking sildenafil. We report a case of myoclonus as a possible side effect of sildenafil and the EEG finding suggests that myoclonus associated with sildenafil is of cortical origin.

Background: Clinical studies in patients with rheumatoid arthritis indicate that subcutaneous methotrexate exhibits a better pharmacokinetic profile than oral methotrexate, and this was associated with greater efficacy. Based on these findings, subcutaneous methotrexate may offer similar advantages for the treatment of psoriasis; however, this has not been previously evaluated. Aims: To determine the effectiveness of subcutaneous methotrexate (Metoject®) in patients with moderate-tosevere psoriasis vulgaris. Study design: Descriptive, single center case-series Methods: The study enrolled 10 patients with moderate-to-severe psoriasis who presented at the outpatient dermatology clinic. Treatment comprised 15 mg of subcutaneous methotrexate, once weekly for 6 months. Data were obtained on demographic characteristics (Table 1), duration of psoriasis, Body Surface Area (BSA), and scores on the Psoriasis Area and Severity Index (PASI) and Dermatology Life Quality Index (DLQI). Results: Eight males and two females were included, with an age of between 18 and 57 years old, and a disease duration ranging from 1 to 16 years. An improvement was observed in the mean affected BSA, from 18% at baseline to 3.3% at 6 months. The mean PASI score declined from 7.0 at baseline to 2.0 at 6 months, and the mean DLQI score decreased from 8.2 at baseline to 2.1 at 6 months. None of the patients experienced clinically relevant changes in laboratory parameters or adverse events related to the gastrointestinal, respiratory or cutaneous systems. Conclusion: Subcutaneous methotrexate was effective for the treatment of moderate-to-severe psoriasis, providing adequate disease control as well as improving quality of life.

Bladder Signet-Ring Cell Carcinoma (SRCC) is extremely rare. It is most often primary, but metastatic disease is described in a few cases in literature. Herein we describe a case of primary SRCC of the stomach with metastasis to the bladder that did not have the chance to receive treatment and passed away due to tumor aggressiveness. We also reviewed the literature and discussed the etiology, prognosis and treatment of bladder SRCC.

The incidence of Coronary Artery Anomalies (CAA) in routine Coronary Angiography(CAG) is between 0.6% and 1.5%. Most anomalies are not of clinical significance, but some are related to angina, dyspnoea, syncope, acute myocardial infarction andsudden death. Diagnosis and adequate imaging of CAA are crucial for appropriate patient management, especially in patient candidates for Percutaneous Coronary Intervention (PCI) and cardiac surgery. This report describes the anomalous origin of the Left Circumflex Artery (LCX), arising by the right sinus of Valsalva and associated with the presence of hypoplasicLeft Anterior Descending Coronary Artery (LAD) that correlates with myocardial scintigraphy findings of reduced uptake in the anterior and inferior wall of left ventricle.

Background: Basal Cell Carcinoma (BCC) is the most common skin malignancy in the head and neck area, cervical metastasis is not common but the risk still remains and cystic lesion had been reported. Cervical Thymic Cyst (CTC) is also a rare disorder. This report aims to describe a clinical puzzle of a CTC in an adult patient with history of facial BCC. We also introduce the new developed robot-assisted surgery for cervical excisional biopsy that is prerequisite for a definite pathologic diagnosis. Case reports: A 39-year-old woman with history of naso-labial fold BCC presented with a cervical cystic mass. To exclude the possibility of cervical metastasis, the robot assisted excisional biopsy was done via retro-auricular approach to avoid leaving a visible cervical scar. The lesion was proved to be a Cervical Thymic Cyst (CTC), which is rarely found in adults and she was satisfied with the invisible scar hidden in the hairline. Conclusion: For a neck mass with undetermined malignant potential, the robot-assisted excisional biopsy via retro-auricular approach is a good alternative with better cosmetic result.

Neoplasms of the sebaceous glands may masquerade as benign lesions resulting in delay in diagnosis. Their presentation may vary from sebaceous cell adenoma to sebaceous cell carcinoma. Worldwide, sebaceous cell carcinoma is the second most common eyelid malignancy after basal cell carcinoma. It commonly occurs in seventh decade of life. We report the clinical and histopathological findings of an 18-years-old girl presenting to us with sebaceous cell carcinoma in absence of any predisposing factors.

Purpose: Joint laxity and hernia defects are two well-defined conditions that are rarely described in association in literature. The purpose of this study is to describe a peculiar case of connective tissue disorder, not yet defined, whose features are habitual joint dislocations associated with recurrent and multiple hernias. Methods: This is an unusual case regarding a 22 years old male adult, who presented shoulder, patellar, mandibular habitual joint dislocations associated with groin, femoral, epigastric, umbilical, spigelian and lumbar hernias. His phenotype, consisting of tall stature and joint laxity, recalls a similar-marfanoid habitus. Results: Marfan Syndrome, Ehlers-Danlos syndrome, MEN-2B were excluded by specific assessments. The aspecific clinical features of the patient do not consent the identification of an exact diagnosis. Conclusion: This medical case, characterized by joint hypermobility and multiple recurrent hernias, probably consists in an unacknowledged peculiar case of connective tissue disorder. Further investigations and identification of subjects with similar features could be surely useful to diagnostic research and definitive characterization of patient’s disease.

Intraventricular migration of a pellet is an unusual complication of a gunshot missile injury to the brain. Herein, we report the case of a 58 year-old man with a gunshot pellet that migrated by its mere tiny size, weight and cerebrospinal fluid pulsation from the lateral ventricle through the third ventricle, aqueduct of Sylvius to the fourth ventricle without accompanying clinical nor radiological manifestations. The pellet was thus managed expectantly. The patient was closely followed-up for short term complications such as hydrocephalus, infection and in the long run will be monitored for syrinx. He remained symptom-free and serial CT brain till 6 months after injury revealed the pellet still lodged in the fourth ventricle. Instances of similar phenomena reported in the literature are also reviewed and discussed.

Introduction: Subdural haemorrhages and effusions are collections of blood or tissue fluid that appear in infants between the lining of the skull (Dura Mater) and the brain surface, with an incidence of 21 in 100,000. Method: This study is further analysis of data in a case report of a dichorionic-dizygotic twin pregnancy in which one twin (Twin-A) presented three months postnatally with seizure. The other twin (Twin-B) developed normally and so became a control. The twins showed similar head growth up to 24 weeks but subsequently the rate of head growth of Twin-A exceeded that of Twin-B. Later, from 29 weeks, Twin-A’s femur growth began to lag Twin-B’s, but abdominal growths remained matched. Postnatally Twin-A’s head growth rate continued to exceed that of Twin-B until at 3 months postnatal Twin–A presented with seizure Discussion: This case suggests that a development defect exists in which cerebral venous vessel diameters fail to keep up with the rapidly increasing cerebral blood flow from late pregnancy into infancy. Forcing the increasing cerebral blood flow through inadequate venous vasculature will produce dangerous intracranial venous hypertension, which may lead to subdural and retinal hemorrhages. Venous effusion develops when lumen pressure markedly exceeds intracranial pressure, causing intracranial pressure to follow cerebral venous pressure. An acute crisis can arise at any time if intracranial pressure compresses veins sufficiently to further increase venous resistance. Thus the basic mechanism is not acute, it is chronic, but it has a potential for crisis. Conclusion: There is a condition, caused by inadequate cerebral vein development, where cerebral vein pressure is raised excessively. Starting in late pregnancy and extending into infancy it may remain clinically silent (apart from macrocephaly) or suddenly result in acute bursting in venous vasculature. In this case enduring recovery was produced by fitting a Subdural-Peritonal shunt.

A 65 years old lady with uncontrolled diabetes mellitus came with Right Eye (RE) vision loss after 7 day history of drooping of RE upper lid. RE showed painful ophthalmoplegia and complete ptosis. Otorhinolaryngologica l (E.N.T.) examination detected edematous mucosa and mucopurulent discharge from sphenoethmoidal recess. Computed Tomography (C.T.) scan showed bilateral sphenoid and right ethmoidsinusitis with no intracranial spread. Most of the lesions were located at orbital apex with no bony erosion, as confirmed with Magnetic Resonance Imaging (MRI). Clinically, it was Orbital Apex Syndrome (OAS) due to noninvasive fungal rhinosinusitis. Treatment with antibiotics and antifungals was initiated. Functional Endoscopic Sinus Surgery (FESS) was electively done on 7th hospital day. Fungal masses were removed from sphenoid sinus and sent for histopathological study. Microbiological study showed Conidiobolus coronatus as causative agent. Conidiobolus rhinosinusitis leading to orbital apex syndrome is very rare. Probably the first reported case in India.