Case Study and Case Report 2023; 13(4): 40 – 43.

Domeer S, Purine Q. Coexistence of sodium and chloride channelopathies: A complex phenotype with features of myotonia congenita and paramyotonia congenita. Case Study and Case Report 2023; 13(4): 40 - 43. Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy disorders. This case study presents a 34-year-old female patient with a complex phenotype involving features of both myotonia congenita (MC) and paramyotonia congenita (PMC). Initially presenting with asthenia, weakness, and limb stiffness in her second decade of life, her symptoms gradually worsened over time. She experienced frequent retrosternal compression, tachycardia, stiffness, and symmetrical pain in her lower limbs. Clinical examination and electromyography confirmed severe lid lag myotonia, hypertrophy in all four limbs, and myotonic discharges. Exposure to cold triggered her symptoms, significantly impacting her daily life. Initial treatment with mexiletine was switched to acetazolamide due to gastrointestinal side effects. Genetic analysis revealed a new variant, p.Glu1607del, in SCN4A and homozygosity for p.Met485Val in CLCN1. This case underscores the importance of accurate diagnosis and appropriate therapy guided by an expert neurologist. Keywords: myotonia, paramyotonia, channelopathies, CLCN1, SCN4A

Case Study and Case Report 2023; 13(4): 35 – 39.

Demir S, Yurab R. CASTLE Thyroid Tumor: A Case Report. Case Study and Case Report 2023; 13(4): 35 – 39. ABSTRACT A rare tumor of the thyroid gland, known as thymus-like differentiated carcinoma, bears structural resemblance to thymic tissue. The prognosis for this type of tumor is generally positive. While radiotherapy has proven effective as a localized treatment, instances of distant recurrence have been reported. In order to lower the risk of recurrence, it has been recommended to incorporate chemotherapy into the treatment regimen. In this case report, we present the successful treatment of a patient with a large tumor and extrathyroidal extension. The patient received surgery, radiotherapy, and cisplatin, which resulted in manageable side effects. Three years later, the patient remains disease-free both locally and in distant sites. Key words: CASTLE, thyroid, tumor

Case Study and Case Report 2023; 13(3): 31 - 34.

Dashtseren Y, Ranishen P. Aspergilloma-Replicating Lung Cancer: A Case Study. Case Study and Case Report 2023; 13(3): 31 - 34. ABSTRACT Aspergilloma is a formation consisting of Aspergillus hyphae, fibrin, mucus, and cellular debris found in a lung cavity or dilated bronchus. Computerized tomography (CT) scans often show a cavity with a solid mass and a crescent sign, which are characteristic of aspergillomas. However, the European Respiratory Society advocates for a more comprehensive diagnostic approach. This case report describes a patient initially diagnosed with an aspergilloma based on CT findings, presenting with a cavitary lesion and intracavitary lobular opacity in the left upper lobe, along with a history of hemoptysis. After resection, histological examination contradicted the initial diagnosis and revealed lung cancer. This highlights the importance of obtaining a tissue diagnosis from the beginning or using a multifaceted diagnostic approach that includes radiological findings, serology, and microbiology tests. In the absence of an initial tissue diagnosis, regular follow-up and early interval scanning Key words: Aspergilloma, lung, cancer

Case Study and Case Report 2023; 13(2): 27 - 30.

Noren Q, Omren P. A case of cannabis-induced ST-Segment elevation myocardial infarction with possible coronary artery dissection. Case Study and Case Report 2023; 13(3): 27 - 30. ABSTRACT Acute coronary syndrome caused by spontaneous coronary artery dissection is an uncommon and sometimes misdiagnosed cause of the condition. We discuss the case of a 41-year-old male patient who had an acute start of left-sided chest pain, which was preceded by several hours of nausea and vomiting. Chronic marijuana usage and several episodes of nausea and vomiting necessitating multiple hospitalizations were noteworthy in the past medical history. A urine drug screen indicated only cannabis, and an electrocardiogram revealed an ST-segment elevation myocardial infarction. This was compounded by a ventricular fibrillation event that was successfully defibrillated and prompted cardiac catheterization, which revealed a coronary intraluminal filling defect and a segmental lesion, both of which suggested coronary dissection. The patient was stabilized after stent implantation and thrombectomy. As the use of cannabinoids becomes more legal and popular, this case seeks to raise physicians' awareness of potentially life-threatening consequences. Key words: Cannabis, myocardial, infarction

Case Study and Case Report 2023; 13(2): 21 - 26.

Noren Q, Omren P. A Case report of the incidental resolution of severe alcohol use disorder During esketamine treatment of major depressive disorder. Case Study and Case Report 2023; 13(2): 21 - 26. ABSTRACT Major depressive disorder (MDD) sufferers are particularly prone to alcohol use disorder (AUD), which is linked to greater rates of morbidity, mortality, disability, and suicide risk. 2019 saw the US FDA approve intranasal esketamine, which has been shown to be a secure and useful therapy choice for MDD that has resisted other therapies. The need for a Risk Evaluation and Mitigation Strategy program for its administration and worries about substance use disorders (SUD) as a potential contraindication or negative effect, however, have limited the availability of esketamine. In this example, a 63-year-old woman with a history of severe MDD that has resisted treatment and a severe alcohol use disorder (AUD) has expressed interest in using esketamine. She started out taking 56 mg of intranasal esketamine twice a week for 20 sessions before moving up to 5 weekly sessions and then 14 weekly sessions of 84 mg. Although PHQ-9 and HAM-D scores decreased and there was an immediate subjective improvement in mood, the dosage was raised to maintain the therapeutic benefit for the duration of the intertreatment period. She managed to get through these sessions without any issues. She also saw a decrease in impulsivity, a decrease in the desire to drink, and a full stop to drinking by the second week. She had one binge relapse while taking 56 mg, which was addressed with motivational therapy, and she hasn't had any alcohol since. This shows that esketamine use is safe and free from the possibility of developing or worsening SUD. Esketamine should not be disregarded as a treatment option for SUD patients because of this, and more study is required to clarify this. Key words: Major, depressive disorder, alcohol, treatment, esketamine

Case Study and Case Report 2023; 13(2): 17 - 20.

Dashtseren Y, Ranishen P. Isolated splenic peliosis: a case report. Case Study and Case Report 2023; 13(2): 17 - 20. ABSTRACT The liver is impacted by peliosis, an uncommon illness having anatomopathological traits. But splenic peliosis is even more unusual and uncommon. Most patients with this condition don't show any symptoms. Due to the significant likelihood of splenic rupture and shock, this disease is also fatal. Here, we describe the case of a 39-year-old Arab woman who presented to the hospital with acute upper abdominal pain that started one week prior to her admission and was accompanied by nausea, anorexia, a low-grade fever, and vomiting. She had no prior medical conditions or histories. A computed tomography scan with contrast revealed several hypodense splenic cysts as well as intraperitoneal free fluid. The result was an emergency exploratory laparotomy with splenectomy. If peliosis is shown to exist in one organ, such as the liver, additional testing is necessary to find out if it exists in any other probable organs that peliosis may impact. Splenic peliosis is incredibly uncommon. Furthermore, there is no proven management strategy for this condition. The only effective treatment is surgery. Splenic peliosis still has many unsolved features that will likely require further study in the near future. Key words: Peliosis, spleen, anatomy

Case Study and Case Report 2023; 13(2): 12 - 16.

Dashtseren Y, Dashtseren P. Fahr's syndrome: bilateral basal ganglia calcifications presenting as psychosis with manic characteristics. Case Study and Case Report 2023; 13(2): 12 - 16. ABSTRACT Fahr's syndrome is a rare neurodegenerative condition characterized by symmetric bilateral basal ganglia calcifications. While the majority of cases are genetic with autosomal dominant inheritance, a small minority are sporadic with no metabolic or other underlying factors found. Fahr's syndrome manifests neurological and psychological symptoms such as movement abnormalities, seizures, psychosis, and depression. Almost 40% of people with basal ganglia calcification have mental symptoms such as mania, apathy, or psychosis. We discuss the case of a 52-year-old woman with no prior medical or psychiatric history who arrived with altered mental status that developed to psychosis over the course of three years. On one visit, the patient had increased liver enzymes and a positive antinuclear antibody panel but no electrolyte problems or movement issues. In the emergency department, the patient was diagnosed with nonspecific psychosis, which was later corrected to Fahr's syndrome, which was verified by neuroimaging. This report details her Fahr's syndrome appearance, clinical symptoms, and therapy. Above important, it emphasizes the significance of a thorough workup and adequate follow-up for middle-aged and older patients with cognitive and behavioral abnormalities, as Fahr's syndrome can be difficult to diagnose in the early stages. Key words: Fahr's syndrome, cognitive, behavior