An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant.

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare genetic condition with approximately 450 patients reported worldwide, inherited in an autosomal recessive manner affecting gamma-aminobutyric acid (GABA) metabolism, characterized by varied clinical features. We report a fetal case of a four-month-old female infant presenting with severe, progressive seizures leading to fatality. Despite aggressive medical interventions, including multiple antiepileptic medications and a ketogenic diet, the patient's condition deteriorated rapidly. Genetic testing revealed a homozygous mutation in the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene. This present case emphasizes the difficulties in controlling SSADH deficiency and emphasizes the necessity for additional studies on successful therapy approaches.

An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report.

Shone complex (SC) is a rare congenital heart disease characterized by four obstructive anomalies, including parachute mitral valve (PMV), left atrial supra-valvular ring, subaortic stenosis, and coarctation of the aorta. Typically, SC manifests early in life. However, we encountered a 52-year-old female with a history of hypertension diagnosed at 26 years and left-sided weakness poststroke. She presented with worsening dyspnea and palpitations, prompting a thorough investigation. Echocardiography revealed a heavily calcified bicuspid aortic valve with severe aortic stenosis and parachute mitral valve with severe mitral stenosis and preserved ejection fraction, raising suspicions regarding the presence of SC. Cardiac catheterization, aortic-angiography, and noncontrast chest computed tomography (CT) revealed abrupt occlusion of the postductal aorta, giving a picture of aortic coarctation with well-established collateral vessels including prominent right and left internal mammary arteries. So, she was diagnosed with an incomplete SC at the age of 52. Shone complex is a rare congenital heart disease that typically presents in early childhood, but late presentations due to misdiagnosis or incomplete work up are possible. This case emphasizes the rarity of late presentations of SC and highlights the importance of early diagnosis and intervention to improve outcomes. An incomplete SC should be considered in adult patients presenting with left-sided obstructive lesions.

Gonococcal endocarditis in a 32-year-old male: a rare presentation of an underrecognized disease - case report.

Introduction and importance: Disseminated gonococcal infection (DGI) is an infrequent but serious complication of gonorrhea that can exhibit atypical symptoms. While rare, it can lead to infective endocarditis (IE), a condition that affects the heart valves and can result in severe and potentially life-threatening outcomes. Case presentation: We present a case of Neisseria gonorrhoeae-caused IE confirmed by blood culture and direct isolation from the aortic valve vegetation. Our patient experienced complications, including glomerulonephritis, respiratory failure, and positive troponin. Urgent surgery successfully removed a large vegetation, replaced the aortic valve, and improved cardiac function. Follow-up showed symptom resolution. Clinical discussion: DGI can present atypically with a triad of tenosynovitis, polyarthralgia, and rash, even without genitourinary symptoms. However, it can also present with nonspecific symptoms, leading to a later diagnosis of IE, as observed in our patient, who developed an aortic valve abscess and aortic regurgitation. Conclusion: This case provides important insights into the diagnosis and management of gonococcal endocarditis, emphasizing the significance of early recognition, timely intervention, and multidisciplinary collaboration in improving patient outcomes. It is imperative to have a high level of suspicion for this rare entity, given its high virulence and potential for severe complications.

Gray Platelet Syndrome-Unusual Presentation with Spontaneous Splenic Rupture: A Case Report and Literature Review.

Gray platelet syndrome (GPS) is a rare hereditary hemorrhagic disorder characterized by macrothrombocytopenia and the absence of alpha-granules in platelets. Clinically, mild-to-moderate bleeding is the main manifestation, often accompanied by thrombocytopenia, splenomegaly, and myelofibrosis. Here, we present a case of a 15-year-old male patient with a history of hepatosplenomegaly, and thrombocytopenia for 8 years, who presented with sudden generalized abdominal pain. Despite initial suspicion of gastroenteritis, diagnostic imaging revealed an extensive hemoperitoneum. Subsequent genetic testing confirmed the diagnosis of GPS, which had not been previously identified. This case highlights the importance of considering inherited platelet disorders should be considered in adolescents with long-standing thrombocytopenia, and emphasizes the need for thorough evaluation in patients with suggestive symptoms.

Takotsubo cardiomyopathy prevalence and associated factors in patients presenting with a clinical picture of acute myocardial infarction in Palestine.

BACKGROUND: Takotsubo cardiomyopathy (TC) is a transient cardiac syndrome that manifests with symptoms resembling acute myocardial infarction (MI). It is characterized by temporary wall-motion abnormalities predominantly affecting the apical and mid-portions of the left ventricle, despite the absence of significant obstructive coronary disease. TC poses diagnostic challenges due to its resemblance to ST-segment elevation myocardial infarction. Our study aimed to determine the prevalence of TC and identify the factors associated with its occurrence in patients presenting with acute MI in Palestine. RESULTS: A retrospective analysis was conducted on a cohort of patients diagnosed with TC at Al-Makassed hospital. Women accounted for 90.7% of TC cases (95% CI 88.2-93.2%). The mean age of affected individuals ranged from 62 to 76 years. The most common presenting symptoms were chest pain (83.4%, 95% CI 80.0-86.7%) and dyspnea (20.4%, 95% CI 16.3-24.5%), often following an emotionally or physically stressful event. Electrocardiography (ECG) on admission indicated ST-segment elevations in 71.1% of cases (95% CI 67.2-75.1%), accompanied by mild elevations of Troponins in 85.0% of cases (95% CI 80.8-89.1%). Despite the initial severity, left ventricular ejection fraction (LVEF) improved from 20-49.9 to 59-76% within a mean time of 7-37 days. The in-hospital mortality rate was 1.7% (95% CI 0.5-2.8%), with complete recovery observed in 95.9% of cases (95% CI 93.8-98.1%) and rare recurrence. The underlying etiology is believed to involve exaggerated sympathetic stimulation. CONCLUSIONS: TC should be considered as a significant differential diagnosis in acute coronary syndrome (ACS) cases, particularly among postmenopausal women with a preceding stressful event. Our study provides insights into the prevalence and characteristics of TC in the Palestinian population. While stress has been recognized as a potential trigger for TC, further research is needed to explore if there are specific associations between occupation and other unique stressors in the Palestinian context and the prevalence of TC. The study's results can raise awareness among healthcare professionals in Palestine about the prevalence and characteristics of TC in their patient population.

Interrupted inferior vena cava syndrome discovered incidentally after minimally invasive mitral valve repair in a 31-year-old female patient: A case report.

INTRODUCTION: Femoral cannulation is a technique used in minimally invasive cardiac surgery (MICS) for accessing the heart through the femoral artery and vein. However, the presence of an interruption in the inferior vena cava (IVC) can pose challenges during the procedure. Understanding the patient's venous anatomy is crucial to ensure successful cannulation. PRESENTATION OF CASE: We present the case of a 31-year-old female patient scheduled for minimally invasive mitral valve repair. During the procedure, femoral vein cannulation was unsuccessful. Subsequent diagnostic Computed Tomography (CT) revealed an interrupted IVC with azygos continuation. DISCUSSION: The interruption of the IVC can make cannulation through the femoral vein difficult or impossible due to the absence of the femoral vein or the presence of a collateral, necessitating alternative approaches. Preoperative imaging, such as CT, plays a significant role in identifying IVC interruptions and guiding surgical planning. CONCLUSION: Our case highlights the challenges associated with IVC interruptions during femoral cannulation in MICS. Preoperative imaging is essential for identifying anatomical variations and determining the most appropriate cannulation approach.