Two cases of pituitary stalk interruption syndrome: importance of early detection and management.

Introduction and importance: Pituitary stalk interruption syndrome (PSIS) is a rare congenital condition affecting the pituitary gland and its stalk, leading to hormonal imbalances. PSIS can present with a wide range of symptoms, including delayed puberty and short stature. Case presentation: This paper discusses two cases of PSIS in patients with a history of growth hormone deficiency. The first case is of a 26-year-old male presenting with fatigue and loss of appetite, while the second case is of a 14-year-old male presenting with delayed puberty. Blood tests revealed hormonal imbalances, and a subsequent MRI confirmed the diagnosis of PSIS. Hormonal supplements were prescribed to manage the condition, and follow-up appointments were scheduled to monitor progress. Clinical discussion: PSIS can present with a wide range of symptoms, and can be diagnosed at different ages. Early diagnosis and management of PSIS are crucial to prevent long-term complications such as short stature, impaired cognitive function, and infertility. The use of hormonal supplements, as seen in both cases, is essential to manage the hormonal imbalances associated with PSIS. Testosterone replacement therapy is used to treat hypogonadism, while thyroxine and hydrocortisone are used to manage hypothyroidism and adrenal insufficiency, respectively. Conclusion: Early diagnosis and management of PSIS through hormonal supplements are crucial to prevent long-term complications. It is essential to monitor patients' progress through follow-up appointments to ensure optimal management of the condition.

Moyamoya disease in a 2-year-old patient from the middle east: a case report and literature review.

Introduction and importance: Moyamoya disease (MMD) is a condition characterized by progressive narrowing of arteries in the brain and abnormal development of small collateral vessels. It is commonly found in East Asia but has never been reported in Palestine. Case presentation: A 2-year-old female, part of a twin born to non-consanguineous parents, presented with recurring seizures and developmental regression. The physical examination revealed signs of hypotonia, reflex abnormalities, and bilateral Babinski signs. Comprehensive laboratory tests and imaging investigations confirmed the diagnosis of MMD, marking this patient as the reported case in Palestine. Clinical discussion: The diagnostic criteria for this condition were revised in 2021 to focus on findings seen in angiography and magnetic resonance angiography (MRA) scans. MMD has not been curative so far, and the management is focused on preventing complications, sometimes with surgical revascularization, including its different approaches: direct, indirect, and a combination of both. Conclusion: This case highlights the importance of identifying MMD in regions where it is uncommon to be diagnosed. It emphasizes the need for diagnosis and appropriate intervention to reduce complications.

Fibrocartilaginous embolism: a rare cause of cervical spine infarction.

Introduction and importance: One of the uncommon causes of ischaemic myelopathy is fibrocartilaginous embolisation, which results from the intersomatic disc nucleus pulposus becoming embolised into the spinal vasculature during Valsalva-like manoeuvres. Case presentation: A 29-year-old female patient presented to the authors' emergency department with general weakness, dizziness, and an inability to move her right hand after a minor trauma. These symptoms deteriorated suddenly until the patient became quadriplegic. The clinical picture and MRI led to a diagnosis of fibrocartilaginous embolism. Clinical discussion: Fibrocartilaginous embolism is a rare cause of spine infarction. There is still little understanding of the underlying cause of FCE. Most cases occur sporadically in people without a family history of the disease, such as the authors' case, and diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage in the vascular system within the spinal cord, infectious and inflammatory causes. Conclusion: When a practitioner suspects that a patient may have fibrocartilaginous embolism (FCE), they should take the patient's history and do a neurological examination. An MRI is required since it is thought to be the most accurate method of diagnosing FCE.

Central retinal artery occlusion in a child with ADA2 deficiency: a case report.

Introduction and importance: Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. During the past decade, DADA2's clinical spectrum has expanded significantly as the number of reported cases has increased. Case presentation: A 5-year-old boy with DADA2 who experienced sudden onset left-sided vision loss due to unilateral central retinal artery occlusion. The patient had a history of recurrent fever and arthralgia with high inflammatory markers (C-reactive protein and erythrocyte sedimentation rate). Brain MRI showed mild limbic encephalitis, and MRA was normal. His gene sequencing results demonstrated substitutions mutation in ADA2, and the diagnosis of DADA2 was eventually confirmed. Clinical discussion: Central retinal artery occlusion (CRAO) in paediatrics is a very rare condition. Typically, DADA2 presents in childhood as systemic inflammation, vasculitis, humoral immunodeficiency, and/or haematologic abnormalities. The most common phenotype described in the literature is vasculitis, which typically affects the skin and central nervous system, but other systems can also be affected. Ophthalmic manifestations are less common and highly variable. Conclusions: DADA2 manifests rarely with central retinal artery occlusion; therefore, physicians should be aware of this manifestation.

Seroprevalence of brucellosis antibodies and associated risk factors among the hospitalized patient, Aleppo, Syria: a hospital-based cross-sectional study.

Introduction and importance: Brucellosis is one of the most common infectious diseases in the world, especially in developing countries. Recent reports show that Syria is among the top ten countries where brucellosis is most prevalent. The purpose of this study is to estimate the seroprevalence of brucellosis antibodies among the hospitalized patients, in one of the largest hospitals in northern Syria. Materials and methods: A cross-sectional study was conducted among the hospitalized patients. The authors used a questionnaire to collect sociodemographic and brucellosis-related data from the patients. The authors also collected blood samples from these patients to be screened for brucellosis antibodies using Wright Coombs Agglutination and 2-mercaptoethanol tests, during the period from November 2021 and March 2022. Results: Among the 776 patients who were recruited in the study, the seroprevalence of brucellosis antibodies was 13.1% (n=776). The highest prevalence was among the female sex (16.7%, n=298), middle aged group 12-40 years (24.1%, n=116), and patients with history of brucellosis (30.1%, n=53). Among the positive samples, the findings of 2-mercaptoethanol tests show that (14.7%, n=102) were positive (presence of IgG Antibodies), and (75.5%, n=102) were negative. Conclusion: This study is the first to describe the epidemiology of brucellosis in northern Syria. It clearly shows high rates of positivity, which reflects immense challenges facing the public health sector in Syria. The best next step in light of this crisis is to raise awareness among population about brucellosis and its risk factor.

Wilson's disease causing acute-onset of optic neuropathy in a child: a case report and literature review.

Introduction and importance: Wilson disease (WD) is a rare genetic disorder with a wide range of clinical manifestations, including hepatic, neurologic, and psychiatric symptoms. To date, there have been five cases (including our case) representing optic neuropathy caused by WD. Case presentation: A 15-year-old female presented to the emergency department with neurological symptoms. The patient exhibited confusion but maintained stable vital signs, and physical examinations were all normal. Abdominal ultrasound and axial brain computed tomography (CT) scan were both normal. The patient's neurological condition and laboratory test results suggested diagnoses of WD. After 2 days, the patient experienced sudden bilateral blindness. The patient's condition deteriorated rapidly, and was subsequently referred to the ICU. Clinical discussion: The incidence of the disease varies by ethnicity, with a higher prevalence in Eastern Asian populations. Diagnosis can be challenging due to the diverse presentation of symptoms, but it is important to consider WD as a differential diagnosis in patients presenting with acute hepatitis and/or neurologic abnormalities. Conclusion: Healthcare professionals should be educated about the diverse clinical manifestations of WD to help in early recognition and diagnosis of the disease.

Stroke as an unusual initial presentation of 'malignant' middle cerebral artery infarction involvement in systemic lupus erythematosus.

Introduction and importance: SLE, or systemic lupus erythematosus, is a chronic autoimmune condition of uncertain origin characterized by the presence of autoantibodies that target the body's own antigens. Case presentation: A 16-year-old female presented at the emergency room with a right-sided lip droop and subsequently developed symptoms consistent with a malignant hemispheric infarction, including altered consciousness, hemiplegia, and forced gaze deviation. Her laboratory results were within the normal range. However, a brain MRI revealed cerebral edema and a massive infarction in the middle cerebral artery (MCA) region. Subsequently, her serologic profile was indicative of SLE, leading to a later diagnosis. Clinical discussion: The patient in this case presented with symptoms suggestive of a stroke. A CT scan showed MCA occlusion, leading to a diagnosis of malignant MCA syndrome. The patient was also diagnosed with systemic lupus erythematosus, which is associated with an increased risk of stroke. Inflammation-induced thrombosis and CNS vasculitis are potential mechanisms linking SLE and stroke. Conclusion: This case serves as an example of a sudden and potentially life-threatening presentation of SLE, underscoring the importance of early detection and targeted treatment that can influence the course of the disease.

Massive scar contractures in unique presentation: Case report.

INTRODUCTION: Scar contractures are a common complication of burn injuries, especially in the head and neck region. This paper presents a case of a middle-aged female who suffered severe scar contracture after a burn injury during the war in Syria. PRESENTATION OF CASE: A 33-year-old woman with a severe neck scar contracture resulting from a neglected burn injury presented to a plastic surgery department. The contractures extended to the chin, mandible, chest, and upper limbs. The patient underwent contracture release and reconstruction surgery, which involved the removal of the platysma and the placement of split-thickness skin grafts. The patient was discharged after one month of hospitalization. However, burn injuries require immediate and deliberate treatment, which may include reconstructive surgery. DISCUSSION: Despite various efforts have been made to prevent the development of contractures, the contraction ratio of burn scars is still a badly controlled process, and reconstructive surgery is often indicated. There are many options to achieving the surgery, which vary in complexity. However, there is no preferable strategy and each option has advantages and disadvantages. CONCLUSION: Reconstructive is complete and technically demanded surgery, which needs special centers and professionals, this leads to poor results, especially in development countries like Syria.

Giant right atrial myxoma presented with symptoms of Budd-Chiari syndrome: a case report.

Introduction and importance: Right atrial myxoma is rarely associated with Budd-Chiari syndrome (BCS). In this paper, we present a case of a young patient with a giant right atrial myxoma complicated by the development of BCS. Case presentation: A 26-year-old female presented to the emergency room with persistent abdominal pain, ascites, lower limb edema, and an acute episode of dyspnea. Abdominal computed tomography revealed a lesion in the right cardiac cavity that resembled an intracardiac thrombus. Transthoracic echocardiography showed a large heterogeneous mass in the right atrium protruding into the right ventricle and a large thrombus interfering with inferior vena cava flow. The patient underwent cardiac surgery to remove the atrial mass, and histopathologic examinations confirmed the diagnosis of atrial myxoma. Clinical discussion: The right atrial myxoma is relatively rare, especially the giant ones. Rarely have intracardiac tumors such as giant right atrial myxoma been identified as a risk factor for the onset of BCS. Conclusion: In the differential diagnosis of BCS, right atrial tumors, including myxomas, should be considered, especially when other explanations are absent.

Giant left atrium and management modalities (surgical vs. conservative): a case report from Mauritania.

Introduction and importance: Giant left atrium (GLA) is a rare condition often associated with rheumatic heart disease and can lead to cardiac and extracardiac complications. In this case report, the authors present a rare case of GLA with extracardiac complications, highlighting the importance of prompt diagnosis and management. Case presentation: A 54-year-old woman with a 25-year history of mitral stenosis caused by rheumatic heart disease presented with symptoms of dyspnea, orthopnea, and palpitations. Diagnostic tests revealed an enlarged left atrium, pleural effusion, severe pulmonary hypertension, and tricuspid regurgitation. The patient was treated with diuretics and ACE (angiotensin-converting enzyme) inhibitors and is currently on a medication regimen with regular follow-up appointments. Clinical discussion: GLA can cause cardiac and extracardiac complications, and conservative treatment and surgery are both involved in the management plan. The reduction of left atrial size by surgery may eliminate symptoms, reduce postoperative complications, and increase the probability of regaining sinus rhythm. Conclusion: Observational data on managing GLA is limited, and mortality can be high. Cardiovascular surgeons should carefully consider surgical options, and screening and follow-up are essential for early detection and management in patients with long-standing rheumatic heart disease.