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1.
Cureus ; 16(5): e60275, 2024 May.
Article in English | MEDLINE | ID: mdl-38872652

ABSTRACT

Beta-thalassemia (ß-thalassemia) is a hematologic genetic condition that causes microcytic anemia due to defective synthesis of the hemoglobin beta chain. As a hypochromic microcytic anemia that is commonly associated with symptoms such as fatigue and pallor when identified in adulthood, ß-thalassemia may be commonly underdiagnosed or misdiagnosed as iron deficiency anemia. This study presents a case of a patient with ß-thalassemia who was initially misdiagnosed with treatment-resistant iron deficiency anemia. Here, we present the case of a 66-year-old male of Mediterranean descent with a history of military service who presented with persistent fatigue. He had a past medical history of hypertension, diabetes mellitus type 2, sleep apnea, and iron deficiency anemia. Despite undergoing unnecessarily prolonged iron supplementation for suspected iron deficiency anemia, the patient's complete blood count and peripheral blood smear continued to identify hypochromic microcytic anemia. Ultimately, hemoglobin electrophoresis was performed, and mutations were identified in the hemoglobin beta chain consistent with ß-thalassemia minor. Due to its rarity and wide variation in presentation, ß-thalassemia may be frequently misdiagnosed. ß-thalassemia is a spectrum of disorders ranging from ß-thalassemia minor, which may be asymptomatic and incidentally discovered in adulthood, to ß-thalassemia major, which may include bone marrow deformities from extramedullary hematopoiesis and require frequent blood transfusions to sustain life. Therefore, patients who present with symptoms of ß-thalassemia minor may not be identified until later in life after undergoing decades of ineffective treatment. ß-thalassemia is a multifactorial disease with a variety of clinical presentations that can easily be misdiagnosed as other types of anemia. This case highlights the importance of performing thorough laboratory testing and casting a wide net of differential diagnoses when evaluating patients with treatment-resistant anemia. This case calls for further research on the genetic contributions to ß-thalassemia as well as improved ways to identify this disorder, particularly in patients who may not have a severe form that is easily diagnosed in early childhood.

2.
Cureus ; 16(5): e59506, 2024 May.
Article in English | MEDLINE | ID: mdl-38826973

ABSTRACT

This case report examines the experience of a nine-year-old male with autism spectrum disorder (ASD) who was admitted to his rural community emergency department (ED) for the treatment of aggressive behaviors, agitation, and violence. Despite a high prevalence of such behaviors within the autistic pediatric population, multiple inpatient facilities that offer pediatric psychiatric services refused to transfer his care. Many other commonly used resources and treatment modalities were also not available, resulting in a nine-day ED boarding experience with minimal symptomatic improvement. Pharmacotherapy was utilized, but nationally recommended guidelines were not appropriately followed. Although this case is one of many pediatric patients who received inadequate psychiatric care from their local ED, it is significant in identifying specific areas of improvement within Northeast Louisiana psychiatric healthcare. This case report of a nine-year-old male with autism underlines the hardships faced by patients and their families due to the gaps in our current healthcare infrastructure and emphasizes the importance of protocols and resources for patient populations with higher-than-average wellness needs.

3.
Cureus ; 16(2): e54956, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38544592

ABSTRACT

Tuberous sclerosis complex (TSC) is a neurocutaneous disease that manifests across multiple body systems. While there are substantial guidelines and protocols for managing the physical presentation of the disease, managing the psychosocial factors and the adverse effects as a social determinant of health is complex and unclear. This study discusses a patient with TSC who was hospitalized for pneumonia and how both her psychiatric and somatic symptoms were managed. Here we present the case of a 38-year-old Caucasian female with shortness of breath and generalized weakness. She had a past medical history of TSC and pneumothorax. This patient presented to the emergency department agitated and initially combative with her care team. Ultimately, she was administered dexmedetomidine to reduce her agitation. Here we suggest that this patient's agitation and other psychiatric symptoms are intimately related to her diagnosis of TSC. Because of the heavy burden of TSC on the patient's life, the patient's aggressive nature could be an act of displacement of feelings from her medical complications onto her interactions with others. The patient understood that her complications hindered her ability to function as a healthy 38-year-old and perform activities of daily living without severe exhaustion. Just as her condition and its secondary complications hindered her body, feelings of anger and despair hindered her ability to appropriately interact and socialize with others. TSC is a debilitating condition that targets the body and mind. While much research has gone into treating each somatic system it may affect, there is a disconnect between the psychiatric aftermath and the toll that such a condition's psychiatric comorbidities may take on its patients.

4.
Cureus ; 16(2): e53764, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38465126

ABSTRACT

Auditory hallucinations are sounds that patients perceive as coming from outside of their body. Though the mechanism causing auditory hallucinations is not entirely understood, there is a significant amount of evidence suggesting that auditory hallucinations leave lasting impacts on the brain in the same regions that are involved in auditory processing. Sudden sensorineural hearing loss (SSNHL) is a poorly understood condition in which patients lose their hearing typically in the fifth decade of life. Here we present a case of a 42-year-old female with a history of schizophrenia with auditory hallucinations who experienced SSNHL at age 40. As the patient had no known risk factors for SSNHL, we propose that this patient's SSNHL is linked to her history of auditory hallucinations. Through the presentation of this case, we hope to explore the pathogenesis of auditory hallucinations and investigate a potentially bidirectional association between auditory hallucinations and SSNHL. This study calls for further investigation into the impacts of auditory hallucinations on the brain, possible etiologies of SSNHL, and the possibility that auditory hallucinations serve as a risk factor for SSNHL.

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