Susac syndrome: A rare pediatric case.

Susac syndrome is a rare microangiopathy of unclear etiology, likely autoimmune, characterized by a characteristic clinical triad of encephalopathy, retinopathy, and hypoacusis. The majority of cases reported in the literature involve adult patients, with its occurrence in the pediatric population being extremely rare. Magnetic resonance imaging (MRI) is essential for diagnosis and patient monitoring, revealing nearly pathognomonic features, particularly valuable given the typically incomplete clinical triad and the consistent presence of encephalopathy, often as the initial symptom. We report the case of an 11-year-old child diagnosed with Susac syndrome, highlighting the importance of considering this diagnosis in cases of childhood encephalopathy and initiating treatment as early as possible to prevent irreversible sequelae.

Yolk sac tumor of the liver in an infant: A case report.

Yolk sac tumors can occur in various extragonadal sites, including the hepatobiliary tract, and are often associated with elevated serum alpha-fetoprotein. We report the case of a 14-month-old male infant presenting with abdominal pain and distension. Ultrasound and computed tomography scans of the abdomen revealed contiguous hepatic masses with lobulated contours, containing areas of necrosis. The patient underwent surgical resection, and histological studies confirmed the diagnosis of a yolk sac tumor. The occurrence of a yolk sac tumor in the liver is extremely rare. Ultrasound and cross-sectional imaging can be highly effective in diagnosing these tumors when combined with biopsy procedures to confirm the diagnosis. Although rare, yolk sac tumors of the liver should be considered a differential diagnosis for hepatic masses.

Abdominal pain and distension in a 4-years-old child revealing an hepatoblastoma.

Hepatoblastoma (HBL) stands as the primary liver tumor most frequently encountered in children, typically identified within the initial 5 years of life. Cases involving patients older than 5 years are very rare. We report the case of a 4-year-old male child who presented to the emergency department with acute onset abdominal pain and fever. Clinical examination revealed significant abdominal distension, correlated with an abdominal mass later confirmed.

Retroperitoneal cystic lymphangioma coexisting with a uterine fibroid in a 42-year-old woman: A case report.

Lymphangiomas are rare benign neoplasms traditionally thought to result from congenital lymphatic channel malformations, though they may also be associated with other conditions. Retroperitoneal lymphangiomas account for 1% of all lymphangiomas, and fewer than 200 cases have been reported. A 42-year-old woman was admitted with symptoms of abdominal pain and distension. A computerized tomography (CT) scan showed an abdomino-pelvic mass and a giant uterine myoma. The patient underwent explorative laparotomy and the whole cyst mass was removed along with the uterine myoma. Cystic lymphangiomas are often misdiagnosed because of the vague symptoms and the absence of obvious etiology. A provisional diagnosis can be made with CT but histological examination confirms the diagnosis. Cystic lymphangioma should be included in the differential diagnosis of an ovarian cystic mass. Complete resection can be curative.

A Rare Case of Infantile Myofibromatosis With Intra Cranial Involvement.

Infantile myofibromatosis is a proliferative disorder occurring during infancy and early childhood, marked by the development of nodular or diffuse lesions consisting of various mesenchymal elements. Intracranial involvement is infrequently reported. Here, we present the case of a 3-year-old girl exhibiting a rare manifestation of IM with intracranial parenchymal involvement, displaying a histological pattern documented in existing literature on patients with infantile myofibromatosis. Subsequent MRI follow-up revealed no signs of recurrence.

Incidental Finding of Arteria Lusoria.

The arteria lusoria or retroesophageal right subclavian artery is the most common malformation of the aortic arch. It may be discovered with some symptoms of airway and/or esophageal compression, such as dyspnea or dysphagia, but in most cases it is an asymptomatic pathology. We report a case of a 3 months old patient diagnosed with Down syndrome who was admitted for pulmonary infection with incidental finding of retrooesophageal right subclavian artery.

Antenatal imaging diagnosis of thoraco-omphalopagus conjoined twins.

Conjoined twins occur in an estimated one in every 200,000 live births. The etiology remains largely speculative, with genetic and environmental factors being considered. The thoraco-omphalopagus type accounts for approximately 40% of cases, making it a focal point for clinical and radiological research. Radiological imaging plays a pivotal role in delineating anatomical details, offering insights into the feasibility of surgical interventions and informing parental counselling regarding prognosis and management options. We present a case of thoracoomphalogus conjoined twins diagnosed during the third trimester of pregnancy in a 19-year-old woman. The detailed radiological assessment using ultra-sound and MRI provided crucial information on organ sharing and vascular anatomy, which is critical for management strategies. This case underscores the critical role of prenatal imaging in detecting complex congenital anomalies, facilitating informed decision-making by healthcare providers and families.

Late presentation of gastric duplication cyst in pediatric patient: Lessons learned.

Gastrointestinal duplication is an infrequent congenital disorder characterized by the presence of a muscular layer covered by mucosa. Gastric duplication cysts account for approximately 2%-9% of all gastrointestinal duplication cysts. The typical clinical presentation often includes symptoms such as epigastric pain, vomiting, and the presence of a palpable abdominal mass. However, these symptoms can overlap with more common conditions. Diagnostic confirmation usually necessitates additional imaging studies, and surgical intervention is the recommended treatment approach. In this case report, we present the case of a 9-year-old girl who presented with chronic abdominal pain and vomiting. Following a comprehensive evaluation, including a CT scan and various diagnostic tests, a diagnosis of gastric duplication cyst was established. The patient subsequently underwent a laparotomy procedure, during which the cyst was completely excised. Follow-up visits indicated an uneventful recovery, with complete resolution of all symptoms. The aim of this work is to report on the clinico-radiological aspects of gastric duplication cysts and their surgical treatment.

Primary Ewing sarcoma of the kidney: a rare entity with diagnostic challenges.

Ewing sarcoma is a very rare tumour with aggressive behaviour and a poor prognosis. It tends to metastasize rapidly. Renal Ewing sarcoma is extremely rare, and only 48 cases have been reported in the literature. Herein, we report the case of a 14-year-old female presenting with a painful left flank swelling. Ultrasound and magnetic resonance imaging showed a large tumour invading the left kidney, heterogeneously enhanced after injection, associated with lymph nodes and peritoneal carcinomatosis. A thoraco-abdomino-pelvic computed tomography scan revealed pulmonary nodules and osteolytic lesions. A biopsy was performed, and histology, immunohistochemistry, and molecular studies confirmed the diagnosis of retroperitoneal Ewing sarcoma. Multi-agent chemotherapy followed by radical nephrectomy was performed, confirming the renal origin, and histology showed a post-therapeutical response. After a 1-year follow-up, there was no evidence of recurrence. We report this case to highlight the rarity of this entity and its challenging clinico-pathological diagnosis when presenting as a renal tumour.

Giant juvenile fibroadenoma: A case report.

INTRODUCTION AND IMPORTANCE: Breast pathology in adolescents is rare and predominantly benign, with abnormalities including congenital anomalies, infections, mastodynia, nipple discharge, and mostly benign breast masses. Fibroepithelial tumors, the most common type, form a heterogeneous group that includes benign, borderline, and malignant entities such as phyllodes tumors. Differentiation of these tumors, especially various types of fibroadenomas, requires histopathological examination due to their similar radiological appearances and lesion heterogeneity. Recognizing the nature of these lesions is crucial to avoid missing malignant forms with metastatic potential. Giant juvenile fibroadenoma is a quite rare benign fibroepithelial tumour, that cannot be differentiate from phyllodes tumors before anatomopathological examination. CASE REPORT: We report the case of a 14-year-old patient who presented with a rapidly enlarging mass in the left breast, and the diagnosis of giant juvenile adenofibroma was confirmed after surgical treatment. CLINICAL DISCUSSION: Giant juvenile fibroadenomas occurs in adolescent girl and constitutes 0.5 % - 4 % of all fibroadenomas cases. When it exceeds 5 cm, weighs more than 500 g, or occupies more than 4/5 of the breast, it is considered as giant. It is characterized by a rapid increase in size, causing distortion and compression of the breast. Breast ultrasound is the first imaging modality, showing a large, well-limited hypo or iso echoic mass. The main differential diagnosis should be made with phyllodes tumors. The diagnosis is considered based on clinical and radiological features but is confirmed only after surgical excision of the mass and histological study. CONCLUSION: The discovery of a breast mass in an adolescent should prompt further investigations to avoid overlooking a fibroepithelial tumour. The most probable diagnoses are giant juvenile fibroadenoma and phyllodes tumors.

Congenital cervico-vaginal aplasia with a functional uterus: A case report and review of literature.

Maldevelopment of the vagina and cervix is frequently accompanied by uterine aplasia or hypoplasia. Complete cervico-vaginal aplasia with a normally developing uterus is a very uncommon type of developmental failure. Failure to treat the condition can result in complications such as hematometra and hematosalpinx caused by the retrograde flow of blood into the fallopian tubes. In this case report, we describe the case of a 32-year-old woman experiencing cyclic abdominal pain and primary amenorrhea. The patient exhibited cervico-vaginal agenesis, with a functional uterus that was complicated by hematometra and bilateral hematosalpinx.

Unusual case of spinal cord compression revealed a double primary Hodgkin's lymphoma of the spinal cord.

Hodgkin's lymphoma revealed by a medullary compression with a double primary vertebral localisation is extremely rare. We report the case of a boy in middle childhood who was presented with slow progression of medullary compression syndrome over 9 months, ultimately leading to paraplegia with loss of sphincter tone. The spinal MRI showed two tumour processes at T9 and L1 with epidural extension. An anatomical-pathological examination of the biopsy of the tumour mass, along with immunohistochemical analysis, confirmed the diagnosis of a lymphocyte-rich classic Hodgkin's lymphoma, stage IV according to the Ann Arbor classification. The therapeutic strategy was based on chemotherapy. This study aims to report a unique clinical presentation of Hodgkin's lymphoma in a paediatric patient and underscores the diagnostic challenges encountered in such an uncommon scenario.

Fibrous Dysplasia Polyostotic: When Radiology Clarifies the Diagnosis.

Fibrous dysplasia is a rare non-hereditary congenital condition characterized by 2 main forms: monostotic and polyostotic. Monostotic is the more common form, while polyostotic, often associated with a syndrome, is rarer. The case presented involves a 10-year-old patient who was diagnosed with polyostotic fibrous dysplasia accompanied by an endocrinopathy. This report explores the clinical and radiological aspects of this condition based on the patient's case.

The white cerebellum sign: Classic but under recognized sign of brain injury.

The white cerebellum sign is a concerning but uncommon radiological imaging result that is frequently seen in patients with severe, frequently irreversible anoxic-ischemic brain injury. Due to its frequent correlation with an unfavorable prognosis, radiologists must recognize this sign. We report the case of a 1 year old girl with history of epilepsy who presented with deterioration of conscious level and focal fits and brain computed tomography scan done on her revealed the white cerebellum sign.

Amyand's hernia in a 3-month-old infant: A case report.

Amyand's hernia is a rare condition characterized by an inguinal hernia containing the appendix, which can lead to complications. It is more common in children and it can be challenging to diagnose due to its location, often being mistaken for other conditions like strangulated hernias, orchitis-epididymitis, or testicular torsion. Imaging, including computed tomography and sonography, plays an important role in diagnosis, which is usually made intraoperatively. A case concerning a 3-month-old boy with a large acute scrotum that had been evolving for 4 days was presented. Clinical examination revealed a hard inguinal mass and a large scrotum with signs of inflammation. An inguinoscrotal ultrasound found a herniated appendix, suggesting the diagnosis of Amyand's hernia, which was confirmed after surgery.

Tibia vara caused by focal fibrocartilaginous dysplasia: A rare case report.

Focal fibrocartilaginous dysplasia is an uncommon benign bone condition that predominantly affects children and typically leads to varus deformities in the proximal tibia. It was first described by Bell in 1985. The etiology remains unknown and the diagnosis is radiological; biopsy is not necessary. We present a case of a 2-year-old child who presented to our department for a right limb varus deformity caused by focal fibrocartilaginous dysplasia.

Right atrial tumor revealing intravascular leiomyomatosis: about a case and literature review.

Intravascular leiomyomatosis (IVL) is a very rare extension of uterine leiomyoma through the pelvic vessels. It is a benign pathology with malignant potential with a possibility of intra-cardiac extension and metastases (cerebral, pulmonary, lymph node); early diagnosis is very difficult. Prognosis depends on involvement of the inferior vena cava and extension to the right cavities. We report a case of complications of IVL, precisely the extension in the right atrium, in a 49-year-old woman. The objective of our work is to highlight the importance of imaging in the diagnosis of the vascular extension of leimyomatosis.

A rare case of uterine rupture in the first trimester of pregnancy: Case report and review of literature.

Uterine rupture is a serious and potentially life-threatening complication. It is commonly a complication that happens in the third trimester of pregnancy. Its occurrence in early pregnancy is very rare. We report a case of a patient who presented with uterine rupture on a scarred uterus during the termination of pregnancy with misoprostol at 10 weeks' amenorrhea. In this case, we discuss the clinical warning signs, risk factors, and diagnostic methodology, and compare our approach with the literature.

Mycotic Pulmonary Artery Aneurysm a Rare Complication of Ventricular Septal Defect With Infective Endocarditis: A Case Report.

Introduction: Pulmonary artery aneurysms encompass a wide range of presentations and forms. Mycotic aneurysms represent a particular subset of focal dilatation of the vessel wall with high morbidity and mortality rates. Herein, we report the case of a 32 year old patient, with a prior history of ventricular septal defect presenting with a mycotic pulmonary artery aneurysm associated with infective endocarditis and septic emboli. Case presentation: We present the case of a 32 year old male with known history of congenital ventricular septal defect presented to the emergency department with signs of sepsis and dyspnea. Blood cultures were positive for methicillin-sensitive Staphylococcus aureus. An echocardiogram found evidence of endocarditis with multiples intra cavitary vegetations. A CT angiogram demonstrated major right ventricular dilatation, multiple nodules and peripheral opacities, scattered throughout the lungs, indicative of septic emboli. Segmental saccular dilatation of the left lateral basal pulmonary artery consistent with a mycotic aneurysm formation was found. The patient was started on intravenous antibiotics and given the overall satisfactory evolution a conservative approach was pursued. The patient was discharged with antibiotics and scheduled for surgical repair of the ventricular septal defect. Conclusion: To our knowledge, mycotic aneurysms associated to congenital heart malformation like ventricular septal wall defect remains a rare condition with few reported cases in the literature. Being aware of this entity is important for every practicing radiologist to allow for early diagnosis and treatment.

Lipoleiomyoma: a potential mimic of an ovarian dermoid cyst on MRI-a case report.

Uterine lipoleiomyomas are rare variants of uterine leiomyomas which is composed of adipocytes and smooth muscle cells. In this report, we describe the case of a 39-year-old patient who presented with persistent, isolated pelvic pain. Ultrasonography showed an oval, well-defined left ovarian mass. Computed tomography (CT) scanning showed a predominantly-fatty mass with tissular components, no calcifications and heterogeneously enhanced after injection, suggesting initially a mature teratoma. Magnetic resonance imaging (MRI) findings revealed a latero-uterine mass, suggesting the presence of a left ovarian dermoid cyst with a potentially-malignant fleshy component. A subsequent pathology report revealed a lipoleiomyoma with cartilaginous metaplasia. Most notably, despite the fatty nature of the tumour and the use of MRI, the pedunculated appearance of the lipoleiomyoma observed intraoperatively mimicked a dermoid tumour even on imaging. Improved understanding of leiomyoma variants and secondary degenerative changes can help prevent misdiagnosis.