Successful pregnancy in a woman with Herlyn-Werner-Wunderlich syndrome: A case report and literature review.

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital condition characterized by renal agenesis, uterine didelphys, and obstructed hemivagina. This report presents the case of a 19-year-old woman who reported lower abdominal pain and offensive vaginal discharge. Imaging revealed a didelphys uterus, two vaginas, two cervixes, hematocolpos, and an absent right kidney. Surgical intervention involved draining the hematocolpos and excising the uterine septum. After surgery, the patient successfully conceived and had a full-term pregnancy, delivering via cesarean section without complications. This case highlights the importance of early diagnosis and surgical management in preventing complications such as endometriosis and infertility. Prompt recognition and treatment are crucial for preserving fertility in patients with HWW syndrome.

Deficiency of adenosine deaminase 2 (DADA2) with bilateral renal subcapsular hematoma: a case report and literature review.

Introduction and importance: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive genetic disorder caused by loss-of-function mutations in the adenosine deaminase 2 (ADA2) gene. This condition primarily manifests in pediatric cases before the age of 10 years, with sporadic cases reported in adults. ADA2 is a critical enzyme involved in macrophage differentiation and immune homeostasis. The clinical manifestations of DADA2 vary widely and can affect multiple organ systems. Our case uniquely highlights an infrequent DADA2 manifestation. Case presentation: An 18-year-old female presented with right flank pain, fever, and a history of joint pain, Raynaud's phenomenon, livedo-like rash, and chronic abdominal pain. Physical examination revealed subcapsular hematoma in the right kidney. Further evaluation showed positive serologic tests for rheumatoid factor and antinuclear antibody (ANA). Genetic testing confirmed DADA2 homozygosity. The patient was discharged on the appropriate medications. Clinical discussion: DADA2 is associated with vascular dysfunction and systemic vasculopathy. The clinical manifestations of DADA2 encompass a spectrum of organ involvement, including the skin, nervous system, gastrointestinal system, renal system, and the cardiovascular system. Early recognition and diagnosis are crucial for appropriate management. Conclusion: This case report highlights the diverse clinical presentations of ADA2 deficiency, specifically focusing on bilateral renal subcapsular hematoma. This finding emphasizes the importance of considering DADA2 as a differential diagnosis in patients presenting with unexplained renal manifestations. Increased awareness of the varied clinical presentations of DADA2 will contribute to earlier diagnosis, appropriate management, and improved outcomes in patients affected by this rare genetic disorder.

Mature Cystic Teratoma of Anterior Mediastinum in a Child: A Case Report and Literature Review.

Mediastinal mature cystic teratomas are rare benign germ cell tumors that predominantly affect children. Despite their low incidence, they present unique diagnostic and management challenges. Early recognition and appropriate surgical intervention are crucial for optimal outcomes. This case report aims to highlight the importance of prompt diagnosis and management of mediastinal mature cystic teratomas in pediatric patients. We present the case of a 10-year-old female patient who presented with persistent chest pain and dyspnea. Imaging studies, including a chest X-ray and contrast-enhanced chest CT scan, revealed a large, well-circumscribed anterior mediastinal mass with calcifications. The patient underwent a right thoracotomy, resulting in the excision of a 6 × 5 × 5 cm mature cystic teratoma. Histopathological examination confirmed the diagnosis. The patient had an uneventful recovery and was discharged in stable condition. Mediastinal mature cystic teratomas pose diagnostic challenges due to their nonspecific symptoms and heterogeneous imaging characteristics. Differential diagnosis includes other mediastinal masses containing fat and calcifications. Surgical excision is the preferred treatment, although complete removal can be challenging due to adhesions to neighboring structures. Close follow-up is necessary to monitor for recurrence and complications. Mediastinal mature cystic teratomas are rare tumors with variable clinical presentations. Early detection and surgical intervention are crucial for optimal outcomes. These tumors should be included in the list of differential diagnoses for mediastinal masses in pediatric patients.

Bilateral renal angiomyolipoma with left renal artery aneurysm in tuberous sclerosis: case report and literature review.

Introduction and importance: Tuberous sclerosis disorder (TSD) is a rare genetic disease that causes abnormal growths or tumors in various organs of the body. They are usually benign and asymptomatic. However, severe, rapidly growing tuberous sclerosis can be fatal. Renal angiomyolipomas are commonly associated with TSD, which can be further worsened by the presence of aneurysms and put the patient at risk for life-threatening hemorrhage. Case presentation: A 29-year-old female presented to the emergency room complaining of right flank pain with an unknown past medical history of tuberous sclerosis. The patient was suspected to have TSD as she fulfilled one of the major features of TSD required to establish a possible diagnosis. On computed tomography scan imaging, bilateral fat-density nodules were revealed in both kidneys. The largest is 7 cm in the left kidney, located at the upper pole, and was associated with a bleeding aneurysm measuring 4 cm in diameter. While the other fatty nodule was recorded at 6 cm in the right kidney at the lower pole. Clinical discussion: After evaluation, the patient was planned for diagnostic catheterization of the left kidney, through which selective angiography of the left kidney was done, and eventually, selective embolization of the branch supplying the left angiomyolipoma was performed. Conclusion: The authors finally conclude that thorough investigations, including systemic manifestations, must be taken into consideration when suspecting tuberous sclerosis, and a conservative approach must always be prioritized before taking any decision toward invasive approaches.

Chronic Cavitary Pulmonary Histoplasmosis in an Immunocompetent Patient.

Histoplasma capsulatum is a fungal organism that causes systemic histoplasmosis. It is commonly asymptomatic in healthy immunocompetent individuals. The clinical symptoms of chronic cavitary histoplasmosis are typically seen in the immunodeficient population, particularly in smokers with pre-existing structural lung disease. We report a case of chronic cavitary histoplasmosis in an immunocompetent patient from an endemic area without pre-existing structural lung pathology. She presented complaining of right hypochondrial pain and had no history of respiratory symptoms nor history suggestive of immunosuppression, tuberculosis, or recent travel. CT scan revealed a cavitary lung lesion and a hilar mediastinal mass. Biopsies obtained by bronchoscopy revealed signs of necrosis, granulomas, and the presence of fungal organisms consistent with histoplasmosis. Histoplasma antibodies by complement fixation for yeast antibodies test were positive establishing the diagnosis of chronic cavitary pulmonary histoplasmosis (CCPH). She was then started on itraconazole with good tolerance. On follow-up three months later, a chest CT done along with measurement of inflammatory markers and liver enzymes demonstrated complete clinical recovery. This case emphasizes the importance of expanding our current understanding of the clinical presentation and manifestations of histoplasmosis beyond the conventional assumption that severe disease only affects immunocompromised individuals.