Case Reports in Medicine最新文献

Introduction: Stiff person syndrome (SPS) is a rare neurological disorder marked by muscle stiffness, spasms, specific electromyographic findings, and elevated levels of glutamate acid decarboxylase. Patients' symptoms and signs can be challenging for general practitioners and specialists. Case report: We present a case of a 56-year-old man with a history of type 1 diabetes with episodes of severe chest, abdominal, and low back pain; severe tachycardia; and difficulty with walking who was seen by different physicians over a period of 10 months without any significant improvement. He had significant weight loss during this period due to abdominal pain. Multiple studies, including computerized tomography and magnetic resonance imaging of the abdomen and entire spine, upper and lower gastrointestinal (GI) endoscopies, and cardiac catheterization, were unremarkable. The patient presented at our facility with severe abdominal and chest pain, diffuse abdominal muscle rigidity, and periods of severe tachycardia. He also had elevated creatine kinase and lactate levels. Extensive workup for infectious, cardiac, and GI processes was negative. The patient was diagnosed with SPS based on history, clinical examination, and an exceedingly high titer of glutamic acid decarboxylase. He responded well to oral diazepam, baclofen, and gabapentin, and he received a 5-day course of intravenous immunoglobulin therapy. Conclusion: In patients presenting with recurrent tachycardia, abdominal pain, and chest pain, SPS should be considered in the differential diagnosis. It is essential for non-neurologists to be familiar with this disorder.

Background/Objectives: Facioscapulohumeral dystrophy (FSHD) patients experience a progressive loss of fat free mass (FFM) and increase of fat mass (FM). Such an occurrence may lead to an impaired physical efficiency. A personalized diet, combined with a physical exercise program, may improve body composition, and potentially reduce functional limitations. Here, we present the case of a nineteen-years-old male clinically and genetically characterized FSHD patient who underwent a one-year nutritional and training intervention aimed at contrasting the disease-induced body composition modifications and associated negative sequelae. Methods: Baseline assessments included dietary intake (nutritional anamnesis), body composition (bioimpedance analysis), biochemical parameters (blood tests), resting metabolic rate (RMR; measured by indirect calorimetry), physical efficiency, and quality of life (Checklist Individual Strength Fatigue and Functional Assessment Chronic Illness Therapy Fatigue). Based on the initial findings (insufficient daily caloric intake, inadequate leucine distribution, and nonphysiological glycemia), a personalized nutritional (50% carbohydrates, 30% fats and proteins at 1.5 g/kg of body weight/day, with leucine intake of 1-3 g per meal) and supplementation (11 g/day of essential amino acids) plan was prescribed, alongside a physical training program composed by two resistance and one aerobic exercise sessions per week. Results: After one year, improvements in body composition (FFM +6.9 kg, body cell mass +3.3 kg, FM -2.1 kg), RMR (+309 kcal/day), fasting glycemia (-1.6 mmol/L), perceived physical efficiency (diminished perceived fatigue), and quality of life were reported. Conclusions: Our results suggest that a tailored dietary intervention, when combined with an appropriate training program, could represent a promising long-term strategy for contrasting disease-related physical deconditioning in FSHD. These findings encourage further research on this approach in a larger cohort of patients.

Background: Gitelman syndrome is a rare autosomal recessive renal tubulopathy, characterized by hypomagnesemia, hypokalemia, hypochloremia, and metabolic alkalosis. The syndrome commonly presents with symptoms such as fatigue, muscle cramps, and tetany, impacting patients' quality of life. Although genetic confirmation via identification of mutations in the SLC12A3 gene is ideal, resource constraints often limit access to these tests, especially in low-resource settings. This study aims to analyze the clinical, biochemical, and familial features of Gitelman syndrome in three patients, highlighting the syndrome's characteristic biochemical abnormalities and discussing the implications of limited genetic testing. Methods: We conducted a comparative analysis of three diagnosed cases of Gitelman syndrome. Clinical presentations, biochemical data (with emphasis on magnesium and potassium levels), and family histories were systematically collected. Due to logistical limitations, genetic testing could not be performed. A comparative evaluation was then undertaken to assess commonalities and differences among the cases. Results: All three patients presented with hallmark clinical features of Gitelman syndrome, including fatigue, muscle cramps, and intermittent tetany. Biochemical evaluation revealed persistent hypokalemia (serum potassium: 1.0-3.1 mmol/L), hypomagnesemia (0.53-0.60 mmol/L), and metabolic alkalosis (HCO₃ ^-: 28-31.5 mmol/L; pH: 7.40-7.45). Urinary electrolyte profiles demonstrated inappropriate renal losses of potassium (54 mmol/24 h), chloride (180-190 mmol/24 h), and sodium (70-120 mmol/24 h). Serum creatinine levels remained within normal limits (7-9.1 mg/L), and parathormone concentrations ranged from 30 to 32 pg/mL. No suggestive clinical signs of Bartter syndrome were observed, and secondary causes such as diuretic use, autoimmune nephropathies, and endocrinopathies were excluded. Family history was negative in two of the three cases, suggesting the potential for de novo mutations or undetected autosomal recessive inheritance. All patients were managed with oral potassium and magnesium supplementation, resulting in notable clinical and biochemical improvement, with follow-up serum potassium ranging from 3.5 to 3.9 mmol/L and magnesium from 0.74 to 1.3 mmol/L. Conclusion: The clinical and biochemical findings in these patients are strongly indicative of Gitelman syndrome, even in the absence of genetic confirmation. This study emphasizes the necessity of a multidisciplinary approach in diagnosing and managing Gitelman syndrome, where biochemical assessments and clinical findings are instrumental. While genetic testing could provide conclusive evidence, effective management through electrolyte supplementation plays a crucial role in improving patients' quality of life.

Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) are chronic, multisystem disorders. When the two coexist, the manifestations become more complex and diverse, and early diagnosis and treatment are a key to improving the patient prognosis. However, to date, only scarce reports have been published, especially overlap syndrome. We review the diagnosis and treatment process of a case of acute renal injury and encephalopathy syndrome secondary to SLE with overlapping SS to gain a comprehensive understanding of the disease with review of the current literature.

Hodgkin's lymphoma (HL) is uncommon, and its etiology has been attributed to infectious sources such as Epstein-Barr virus (EBV). Though pathogenesis is not completely understood, studies have revealed that specific viral proteins from EBV conduct the process of HL development. In this report, we will discuss the case of a patient who developed EBV-associated classic HL 15 years after an episode of infectious mononucleosis.

Ewing sarcoma is a small round cell tumor of uncertain differentiation, primarily originating in bone in children and adolescents. Ewing sarcoma of the kidney is a rare occurrence and follows an aggressive course with early metastasis. Herein, we present a case of a 16-year-old male presenting with abdominal pain and lump. He underwent nephrectomy and histopathological diagnosis of small round cell tumor with differential diagnosis of Ewing sarcoma was made which was further confirmed by immunohistochemistry. Thus, Ewing sarcoma must also be taken into consideration while dealing with tumors of the kidney in young age group.

Introduction: Hypopharyngeal rupture caused by indirect neck trauma is a rare but potentially life-threatening injury. Delayed diagnosis can lead to severe complications, highlighting the importance of clinical suspicion and appropriate imaging. Case Presentation: A 64-year-old male patient sustained indirect neck trauma following a car accident. He was initially transferred to the hospital with mild symptoms and was discharged. However, a few hours later, he returned to the emergency department with neck pain, odynophagia, and dysphagia. CT imaging revealed evidence of hypopharyngeal rupture accompanied by retropharyngeal emphysema. The patient was managed conservatively with Nil Per Os (NPO), intravenous antibiotics, and the placement of a nasogastric (NG) tube. He achieved full recovery without complications. Conclusion: This case emphasizes the importance of thoroughly evaluating the relationship between clinical complaints and the mechanism of injury in patients with indirect neck trauma. High clinical suspicion, detailed history-taking, and appropriate imaging modalities are crucial for early diagnosis and effective management.

Phosphatase and tensin homolog (PTEN), a tumor suppressor gene, is also associated with neurological phenotypes, including macrocephaly, Cowden syndrome, and autism spectrum disorder. We present a 34-year-old Chinese male who complained of recurrent seizures within one year. His occipital frontal circumference was 62.8 cm. Whole-exon sequencing revealed that he carried a heterozygous missense mutation of NM_000314.4:c.4375C > T (p.Met35Val) in PTEN gene. Therefore, heterozygous mutations of c.103A > G in PTEN may increase the risk of macrocephaly with epilepsy.

Small-cell lung carcinoma (SCLC) associated with cystic airspaces is rare. We describe the case of a 68-year-old man who was referred to our hospital because of a cystic lesion detected on chest radiography. Initial computed tomography revealed a small nodule abutting the cystic airspace due to paraseptal emphysema in the right lower lobe. Histopathological examination of lymphadenopathy indicated SCLC. Postchemotherapy, recurrence appeared as a thick-walled cystic airspace with an exophytic nodule along the cyst wall, mimicking pneumonia. Additional chemotherapy, but not antibiotic therapy, led to a reduction in the wall thickness and nodules. This case emphasizes unresponsiveness to antibiotic therapy, especially in patients with risk factors, highlighting the diagnostic pitfall that may delay timely cancer treatment.

Hairy cell leukemia (HCL) is among a group of mature lymphoid B-cell disorders characterized by the identification of hairy cells and a unique genetic profile. Detection of CD103 expression on flow cytometry is the key in enumerating the immunologic score for diagnosing HCL. For a disease that is more prevalent in Caucasians and less common in African populations, we report an unusual case of CD103-negative classical HCL in a 43-year-old African male, who presented with refractory anemia, thrombocytopenia, and splenomegaly. In patients with refractory anemia, it is crucial to consider investigating HCL, as this may influence therapeutic decisions and, consequently, overall patient outcomes.