Radiological diagnosis of severe appendicitis in 4 months infant with possible microperforation: A rare case report.

Appendicitis is the most common cause of acute abdominal pain requiring surgical intervention; however, it is extremely rare in infants. Its diagnosis and treatment are challenging due to nonspecific clinical signs and symptoms. As a result, delayed or missed diagnosis is common in young children and is associated with an increased risk of perforation and peritonitis. We reported a case of a 4-month-old healthy male child. The patient presented with abdominal distention and fever. After ruling out other possible causes, he was diagnosed with acute appendicitis, which was confirmed by a CT scan. A gangrenous appendix, dilated bowel loops, and free fluid in the abdomen were discovered during surgery. An appendectomy was performed. The appendix in infants has an average length of 4.5 cm compared with 9.5 cm in adults. Infantile appendicitis is considered rare but cases have been documented also in neonates, misdiagnosis rates are high due to rarity in this age group in addition to nonspecific signs and symptoms, which led to a high perforation rate. Ultrasonography can diagnose appendicitis in children with a sensitivity and specificity of 90%-95% without subjecting the child to radiation. A physician should always keep the diagnosis of appendicitis in mind in the infant age group, even though it is rare, as a delay in diagnosis and treatment has been associated with an increased risk of complications including appendicular perforation and peritonitis.

Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report.

Deficiency of adenosine deaminase 2 is a rare monogenic multi-organ disease of children and less often adults resulting from mutations in the adenosine deaminase 2 gene. We present a case of a 35-year-old Palestinian male with adenosine deaminase 2 deficiency and maturity-onset diabetes of the young type 2. The patient initially presented with complaints of swelling in his neck and night sweats, leading to a diagnosis of Hodgkin lymphoma. Subsequent evaluation revealed a recurrence of Hodgkin lymphoma, along with symptoms of otitis media, upper respiratory tract infection, and a rash around the mouth. Genetic testing confirmed mutations in the adenosine deaminase 2 gene and glucokinase genes, confirming the diagnosis of deficiency of adenosine deaminase 2 and maturity-onset diabetes of the young type 2, respectively. The patient was treated with Intravenous immunoglobulin, antiviral drugs, and oral hypoglycemic drugs, showing improvement in symptoms and laboratory tests. This case highlights the importance of considering rare genetic disorders in patients with unusual or refractory clinical manifestations, and the need for a multidisciplinary approach in such cases.

Case of left atrial myxoid sarcoma with lung metastases presented as a cardiogenic shock: a case report and literature review.

Cardiac tumors are a rare condition that typically presents with nonspecific symptoms. Among the histologic patterns, myxoid sarcomas are rarely identified and may have a less favorable prognosis. Reporting a case of this type of cardiac tumor can increase awareness about this condition and aid in early diagnosis, potentially leading to better outcomes. Case presentation: We are presenting a case of a 41-year-old female with left atrial myxoid sarcoma, which was presented with a cardiogenic shock picture. She underwent surgical excision of the mass and was discharged in good condition. After discharge, she deteriorated and was found to have lung metastases. Clinical discussion: Primary cardiac sarcomas, due to their rarity and poor prognosis, are often diagnosed at an advanced stage of the disease and lack sufficient data to establish a standard course of treatment. The cornerstone of therapy is surgical resection. However, novel therapeutic approaches must be developed. Conclusions: Primary cardiac tumors should be suspected in adult patients with progressive dyspnea, and a biopsy should also be done to determine the histopathological pattern of the mass and estimate the overall prognosis and outcomes.

A Rare Case of Primary Clear Cell Adenocarcinoma of the Urinary Bladder.

Adenocarcinoma is a rare form of urinary bladder cancer, comprising only 2% of cases, with various histological patterns and levels of differentiation. Among these, clear cell adenocarcinoma is the least common. Contrary to other subtypes, clear cell adenocarcinoma of the bladder has been shown to have a female predominance, and typically presents at the age of 60 after being incidentally discovered on radiological and urinary studies. However, signs and symptoms such as visible and non-visible hematuria, and signs and symptoms of urinary tract infection refractory to antibiotic treatment could occur and clue into the diagnosis. Although imaging can reveal and characterise the lesion, definitive diagnosis requires cystoscopy with biopsy. The treatment of adenocarcinoma of the bladder often requires surgical resection, with adjuvant chemotherapy being utilized in a subset of patients. We report a 79-year-old patient complaining of gross hematuria. Ultrasound was performed and showed a calcified mass at the dome of the urinary bladder, which was confirmed by computerized tomography of the abdomen and pelvis. Subsequent cystoscopy confirmed the diagnosis of clear-cell adenocarcinoma and the tumor was resected using a trans-urethral approach. Radical cystectomy with regional lymphadenectomy and adjuvant chemotherapy were used as the primary therapeutic modality.

Rheumatoid Arthritis With Focal Segmental Glomerulosclerosis: A Case Report and Literature Review.

Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease primarily affecting the joints and, to a lesser extent, other systems. Renal involvement in RA is rare and might be due to the presence of systemic inflammation or the toxic effect of the medications used. Of the many types of renal diseases that can affect RA patients, focal segmental glomerulosclerosis (FSGS) is rarely encountered. In this report, we present a rare co-existence of RA and FSGS in a 50-year-old female with RA who was found to have FSGS as a possible cause of proteinuria and an extraarticular manifestation of RA. The patient's RA started as palindromic rheumatism, which progressed later to chronic symmetrical polyarthritis of the small and large joints. Along with the flare of her joint disease, she was found to have lower limb edema. Her workup showed persistent proteinuria of more than one gram per day. Renal biopsy showed unexpected findings of FSGS. Our patient was treated with tapering doses of steroids, methotrexate, candesartan, and a diuretic that controlled joint disease, blood pressure, and proteinuria. Follow-up at two years showed normal kidney function tests, a significant decline in proteinuria, and controlled joint disease. Our case portrays a possible relationship between FSGS as a cause of proteinuria in patients with RA. Physicians should be aware of the possibility of FSGS in RA patients, which can affect the management plan, medication efficacy, and overall prognosis.

Ewing sarcoma in calcenous presented as chronic osteomyelitis: a case report and literature review.

Ewing's sarcoma (ES) is an uncommon primary malignant tumor of the bone, mostly affecting 5-20 years of age with male predominance. It commonly affects the diaphysial region of long bones, while the small bones of hands and feet are extremely rare (3-5%) to be affected. The authors report a case of calcaneal ES which was misdiagnosed as bacterial chronic osteomyelitis and treated inappropriately. A high index of suspicion is required in diagnosing tumors at rare sites to avoid undue delay in initiating appropriate therapy. As the overall prognosis of ES of the calcaneum is lower compared to other sites, these tumors should have an extensive radiological evaluation and histological confirmation, as misdiagnosis and treatment delays will have detrimental outcomes.

Spontaneous posterior rectus sheath hernia: A case report and literature review.

INTRODUCTION: Hernias of the posterior rectus sheath are very rare abdominal wall hernias with only around 15 reported cases to date. CLINICAL PRESENTATION: This case report examines a 27-year-old female who is presented with epigastric abdominal pain and vomiting. An Abdomen CT scan was done and showed signs of SBO and herniation of the small bowel at the posterior rectus sheath. The patient underwent exploratory laparotomy that showed right-sided posterior rectus sheath obstructed hernia, which was repaired with primary closure. Postoperatively, the patient was doing well and was discharged on postoperative day 3 in good general condition. CONCLUSION: The patient had no complaints during her follow-up at one month. Due to its rarity and potential complications, it is also important to report this case to enhance the evidence base for posterior rectus sheath hernia and to familiarise this uncommon condition to radiologists, clinicians, and surgeons.

Rapidly enlarging axillary cystic hygroma in a 6-year-old male patient: A case report and literature review.

INTRODUCTION: Cystic hygromas are relatively uncommon tumors of lymphatic origin, it appears most of the time, approximately 90 % before age of 2 years, and it is caused by abnormal development of lymphatic vessels. CASE PRESENTATION: Here we report a case of axillary cystic hygroma in a 6-year-old healthy boy, which presented with the rapid development of a right axillary mass during 3 days, without any predisposing factor. DISCUSSION: Cystic hygromas occur due to complete or partial obstruction of lymphatic vessels, which leads to lack of communication with the venous system, this results in the accumulation of lymphatic fluid and swelling, it occurs in the cervicofacial region most of the time 75 %, but it can arise anywhere in the body, it classically presents as painless, soft mass, diagnosis can be done using ultrasound, CT, MRI, each of which has its advantages, surgical treatment is routinely favored, but other options are also available. CONCLUSION: Axillary cystic hygromas are quite rare, few cases have been reported in fetuses and adults, but only one case in the pediatric age group, thus, in light of these cases, cystic hygromas should be considered in the differential diagnosis of any cystic axillary swelling.

Familial Mediterranean fever with pseudo-septic arthritis: A case report and review of the literature.

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease resulting from mutations of the MEFV gene. The disease is characterised by recurrent attacks of abdominal pain and fever. Most FMF patients develop arthritis at some point in their life usually manifesting as self-limiting monoarthritis. On very rare occasions, arthritis in FMF can mimic septic arthritis (pseudo-septic arthritis) with very similar clinical and laboratory findings. We report a case of a young male patient who presented with recurrent attacks of prolonged monoarthritis. For 2 years, he had undergone multiple admissions and operations for drainage of suspected septic joints. The synovial aspiration showed culture-negative pus with very high synovial white blood cell counts highly suggestive of septic arthritis. The patient was later found to have FMF based on homozygous M694V mutation of the MEFV gene. He was treated with colchicine monotherapy with a quick improvement of arthritis and later good control of his disease. The literature review showed very few case reports with similar presentations, most of which responded well to colchicine. FMF can mimic septic arthritis resulting in unnecessary expensive and invasive interventions and prolonged courses of antibiotics. Pseudo-septic arthritis is usually associated with M694V homozygous mutation and can complicate FMF at any time throughout the disease course. It is important to consider FMF in the differential diagnosis of septic arthritis, particularly with a family history of FMF and in patients from communities with a high prevalence of MEFV gene mutation.

Shrinking Lung Syndrome in a Systemic Lupus Erythematous Patient Improved by Rituximab: A Case Report With Literature Review.

Shrinking lung syndrome (SLS) is a rare complication of autoimmune and connective tissue diseases like systemic lupus erythematosus (SLE). A 35-year-old female patient, diagnosed with SLE, came to the hospital complaining of severe dyspnea and pleuritic pain for several months that was worsening on exertion. Imaging (X-ray and CT scan) of the chest at the time of presentation showed bilateral basal atelectasis with elevated diaphragm. Pulmonary function test (PFT) showed restrictive findings including forced expiratory volume in the first second (FEV1) of 37%, total lung capacity of 40%, and vital capacity of 32% predicted with a restrictive pattern on flow volume loop confirming the diagnosis of SLS. The treatment focused on methotrexate and rituximab. Patients with a known history of SLE who start respiratory symptoms like cough and dyspnea should be ruled out of SLS at the earliest as it can be deadly in the later stages.