Medulloblastoma in an Adult Female Patient: A Rare Presentation.

Medulloblastoma (MB) is an aggressive malignant tumor of the posterior fossa of the CNS that mainly affects children younger than 15 years of age. It is uncommon in the adult population compared to children. Any adult patient presenting with cerebellar mass must be evaluated with brain tissue biopsy to rule out MB. Our patient is a 27-year-old female who presented with sudden onset of frontal headache and was diagnosed with MB.

A rare case of myxoid pleomorphic liposarcoma in an infant: A report.

INTRODUCTION AND IMPORTANCE: MPL (myxoid pleomorphic liposarcoma) is an uncommon type of liposarcoma that affects mostly children and infants. Its aggressive behavior and tendency to recur warrant complete excision despite the challenges of troublesome locations. CASE PRESENTATION: A 12-month-old infant presented with an insidious onset of noisy breathing and respiratory distress not relieved by supplemental oxygen via face mask. Examination revealed dullness and decreased air entry on the left chest. Computed Tomographic (CT) scan showed a large solid mass occupying the left hemithorax and displacing the mediastinum to the right. Intraoperatively, a large solid mass arising from the left chest wall and attached to the fifth rib was seen. Histopathology of the resected mass showed myxoid pleomorphic liposarcoma which is non-reactive for MDM2 immunostain. CLINICAL DISCUSSION: Unlike other liposarcomas, myxoid pleomorphic liposarcoma occurs in children, commonly in the chest. CT scan is the preferred imaging modality. Treatment is by complete excision where possible. Molecular studies like Fluorescent in-situ Hybridization (FISH) and Immunohistochemistry (IHC) is used for confirmation. It has a high propensity to metastasize and recurrence is expected. Chemotherapy and irradiation following complete resection decrease the disease recurrence. CONCLUSION: Soft tissue malignancy must be considered in the differential diagnosis of a large intrathoracic tumor in an infant. FISH and IHC are essential for confirmation.

Pure Autonomic Failure: A Case Report of Recurrent Orthostatic Hypotension.

Pure autonomic failure is a neurodegenerative disorder affecting the autonomic nervous system which clinically presents with orthostatic hypotension. It is a diagnosis of exclusion after detailed clinical examinations and relevant investigations. Here, we discuss a case of 68 years old male who had complaints of multiple episodes of loss of consciousness on standing from a sitting position for the last 3 years. The diagnosis was considered by clinical examinations revealing autonomic dysfunctions with normal appropriate investigations. The patient was treated successfully with midodrine, fludrocortisone, and other non-pharmacological interventions. We focused on doing various autonomic dysfunction tests in the evaluation of a patient with recurrent orthostatic hypotension. We suspect that pure autonomic failure might not have been considered in the differential diagnosis of recurrent orthostatic hypotension and suggest that it is to be kept as a differential in such a scenario. Midodrine has an effective role in syncope due to sympathetic vasoconstrictor failure.

A Case Report on Primary Central Nervous System Lymphoma in Immunocompetent Individual.

Primary central nervous system lymphoma (PCNSL) is a rare form of CNS tumor. Immunosuppression is the most important risk factor of PCNSL, but few immunocompetent individuals are also affected. The most common clinical feature of PCNSL includes dizziness and ataxia. Our patient was a 71-year-old immunocompetent female who presented with progressive ataxia, imbalance, and dizziness for one year. A homogenous enhancing lesion was found in magnetic resonance imaging (MRI) of the head. One month later, on a follow-up MRI, a significant increase in the tumor size with surrounding edema was seen. The patient underwent craniotomy and resection of the mass. Subsequently, a diagnosis of diffuse large B cell lymphoma was made on pathology examination. Guideline-directed treatment options were discussed. This case highlights that the prognosis of patients with PCNSL highly depends on the factors such as age and physical status. Early diagnosis by accurate interpretation of imaging and management is crucial for better health outcomes.

Kawasaki Disease Shock Syndrome: A Nine-Year-Old Girl With Atypical Presentation of Kawasaki Disease in Emergency Department.

Kawasaki disease (KD) is an acute rheumatological illness usually affecting children between six months and five years of age. It is a vasculitis syndrome of medium-sized vessels that has typical clinical characteristics such as fever, rash, cervical lymphadenopathy, conjunctivitis, and mucosal changes. However, sometimes, it may present with the features of shock when it is known as Kawasaki disease shock syndrome (KDSS). The actual etiology of this disease is still unknown. The primary treatment of this disease is aspirin and intravenous immunoglobulin (IVIG). The most common and serious complication of KD is cardiac complications which can be avoided by IVIG if given on time. KDSS is the other rare but serious early complication that can be presented to the ED as an initial presenting feature. Early diagnosis of KDSS in the ED and its treatment is very important to prevent early and late complications, including cardiac complications of this disease. Although the usual age group for this disease is under five years, here we have presented a rare case of KDSS in a nine-year-old female child.

A Case Report on Extensive Arterial Thrombosis: A Rare Complication of COVID-19 Infection.

Coronavirus disease (COVID-19) is a global health crisis leading to increased morbidity and mortality worldwide. It is associated with increased activation of the clotting system leading to thrombotic complications increasing the risk of life-threatening complications. We report a case of a 70-years-old COVID-19 positive patient who presented with both lower extremities and forearm pain. On workup, she was found to have an extensive arterial clot. In patients with COVID-19, arterial clots may be the initial presenting symptoms to the hospital and can be fatal if not brought to attention on time.

Macrophage Activation Syndrome secondary to Systemic Juvenile Idiopathic Arthritis: A Case Report.

Macrophage activation syndrome is a rare but a life threatening condition commonly associated with Systemic Juvenile Idiopathic Arthritis. Its clinical presentation includes fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, hyperferritinemia and impaired liver enzymes. The symptoms are alarming yet non-specific and often lead to a delayed diagnosis. A 12 year male presented with a history of intermittent fever and was started on antibiotics but failed to respond after several days of hospital stay. After a series of investigations to rule out multiple diagnoses he was diagnosed as a case of Macrophage Activation Syndrome secondary to Systemic onset Juvenile Arthritis and was treated with steroids.

A Case Report on an Extremely Rare Disease: Factor XI Deficiency.

Factor XI deficiency is a rare condition with an estimated prevalence of about one in one million and is more commonly seen in Ashkenazi Jews (8-9%) due to consanguinity. It occurs because of mutations in the factor XI gene (F11) on chromosome 4(4q35). Patients with this disorder may remain asymptomatic until they undergo any surgical procedure or delivery. The most common sites of bleeding include the oral cavity, pharynx, and genitourinary tract, where there is high fibrinolytic activity. Our patient was asymptomatic his whole life. He never had spontaneous bleeding or bruising; however, he had severe bleeding requiring multiple transfusions of fresh frozen plasma during and after surgeries.