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Hydatidosis, caused by the larval form of the parasite Echinococcus granulosus, is a rare condition, especially in pediatric patients, with pleural involvement being exceedingly uncommon. We report a case of primary pleural hydatidosis in a 9-year-old child, emphasizing the importance of various imaging techniques in establishing an accurate diagnosis.
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The Polysplenia Syndrome (PSS) is a form of heterotaxy, a rare congenital anomaly with an estimated incidence of 1 in 250,000 live births, first described by Helwig in 1929. Most patients with polysplenia syndrome die during the neonatal period due to severe associated cardiac and biliary anomalies. Nevertheless, some individuals present with moderate cardiovascular malformations or abdominal anomalies, often discovered incidentally in adulthood. PSS is categorized under ambiguous situs syndromes or heterotaxy, also known as left or bilateral isomerism. However, it remains a complex and controversial entity, lacking specific pathognomonic features but exhibiting a broad spectrum of anomalies. We report the case of a 29-year-old woman admitted for acute chest pain, associated with lightheadedness and syncope. Clinical examination revealed tachycardia and tachypnea. A thoraco-abdominal CT angiography identified 3 splenules, auricular and bronchopulmonary isomerism, along with cardiovascular and digestive anomalies, suggestive of polysplenia syndrome. Symptomatic treatment was initiated, with a favorable clinical outcome and no need for specific therapeutic intervention.
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The retrotracheal left pulmonary artery, also known as "left pulmonary artery sling," is a rare vascular malformation in which the left pulmonary artery (LPA) arises from the posterior aspect of the right pulmonary artery (RPA) and reaches the left pulmonary hilum by passing between the trachea and the esophagus, giving rise to the appearance of a sling, hence the name "sling." This vascular anomaly can be associated with other cardiac malformations or abnormalities of the tracheobronchial tree.We present the case of a 4-month-old female infant who presented with laryngeal stridor. She underwent a chest X-ray, which was normal, but thoracic CT angiography revealed an aberrant LPA originating from RPA with a retrotracheal course. This case underscores the critical role of imaging in confirming the diagnosis and guiding patient management.
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Botryoid rhabdomyosarcoma is a rare and aggressive malignancy that primarily affects the female genital tract in children. It arises from embryonal rhabdomyoblasts. The vagina is the most common site, but it can also occur, although rarely, in the cervix or uterine fundus. We report the case of a 2-year-old girl who presented with a rapidly growing mass in the vulvar region. A pelvic MRI revealed a grape-like mass occupying the vaginal lumen, suggestive of botryoid rhabdomyosarcoma. Biopsy of the mass confirmed the diagnosis.
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Hydatidosis is a parasitic disease caused by the tapeworm Echinococcus. Echinococcus Granulosus is the most common cause of hydatid disease in humans. Bone involvement is rare, accounting for only 0.9% to 2.5% of all cases. We report the case of an 8-year-old child admitted with right arm pain, revealing a hydatid cyst on the humerus. Lesion assessment revealed a hydatid cyst of the humerus with extension to the adjacent soft tissues. The surgical procedure involved the excision of the cyst along with drainage. In this case report, we review the epidemiological, clinical, and paraclinical aspects of the disease, as well as the treatment modalities. Bone hydatid disease is infiltrative, diffuse, slow, and progressive, making diagnosis late, and compromising the quality of treatment.
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Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+.
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Nephroblastoma or Wilms' tumor is the most common malignant tumor of the kidney in the pediatric population. Metastasis is caused by hematogenous spread. The most common localizations in decreasing order of frequency are lymph nodes, lungs, and liver. The bone is very rarely affected. According to the literature, bone metastases have been described in the iliac bone, skull, and mandible. The vertebral localization was described in 3 cases only, the first 1 in 2009, and the 2 others in 2015 . The goal of our work is to report a very rare case of metastatic vertebral localization of a Wilms' tumor in relapse after treatment; and thus to underline the potential for vertebral and intracanal involvement in nephroblastoma.
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Demons-Meigs syndrome is a very rare entity. It combines a benign ovarian "fibroma-like" tumor with ascites and hydrothorax. The notion of benignancy is the key point. CA-125 levels are most of the time normal, but high levels can be observed in rare cases which makes it difficult to have a diagnostic. We present here the case of a 43-year-old female patient who presented with abdominopelvic pain. Imaging discovered a 30 cm large intraabdominal mass with ascites and bilateral pleural effusion. Surgical resection of the tumor was performed, and pathology identified an ovarian fibroma. No postintervention complications were observed, with resorption of the ascites and hydrothorax.
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The brown tumor is a non-neoplastic lesion resulting from an abnormality in bone metabolism in the context of primary, secondary, or tertiary hyperparathyroidism. They can affect any bone structure and be single or multiple. They are usually located on the long bones, pelvis, ribs, and collarbones. Facial localization is rare and is found in only 4.5% of brown tumors dominated by mandibular involvement. The treatment of a brown tumor depends on several elements: etiology, location, and symptomatology. It can regress or disappear after the treatment of hyperparathyroidism, thus avoiding surgical removal. Otherwise, excision of this mass is performed. We illustrate through this case a brown mandibular tumor revealing secondary hyperparathyroidism in a patient with a history of end-stage chronic renal failure on hemodialysis and associated neurofibromatosis type 1.
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Our patient had an extremely rare type of pediatric Diffuse Midline Glioma (DMG) with modified H3 K27 that occurred in the cervical spinal cord. Due to its location in the spinal cord, slow clinical presentation with torticollis for 7 months, and the non-specific radiological appearance of this tumour, it was initially considered to be a low-grade glioma. Based on imaging findings, the neurosurgery team performed a complete surgical resection, but the pathological features were consistent with a high-grade, diffuse midline glioma. Therefore, we are reporting a case of an altered high-grade DMG H3K27 glioma, which is difficult to diagnose due to its slow clinical symptoms which caused a delay in diagnosis, non-specific imaging, and with difficulty in accessing histopathological markers in low and middle income countries (LMIC).
Assuntos
Neoplasias Encefálicas , Glioma , Neoplasias da Medula Espinal , Humanos , Criança , Histonas/genética , Glioma/diagnóstico , Neoplasias da Medula Espinal/diagnóstico , Neoplasias da Medula Espinal/patologia , Mutação , Pescoço/patologia , Neoplasias Encefálicas/patologiaRESUMO
Myositis ossificans is non-neoplastic heterotopic bone forms in skeletal muscle. We recognize 3 subtypes: fibrodysplasia ossificans progressiva, myositis ossificans with no history of trauma (nontraumatic or pseudomalignant), and circumscribed or traumatic myositis ossificans. Traumatic myositis ossificans circumscripta has not, as far as we are aware, been previously documented as a complication of traumatic hip dislocation. We present the radiological findings of a 10-year-old girl with Thevenards syndrome, whose traumatic hip dislocation was complicated by circumstantial myositis ossificans. X-rays and computed tomography scan enabled us to diagnose by the presence of mature bone in the periphery of the lesion with a smooth contour and well separated from the bone. The treatment of dislocation and complication was nonoperatively.
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Tuberculosis of the central nervous system is the second most common site after tuberculous meningitis. It represents 0.2% of intracranial expansive lesions in some Western countries compared to 10%-30% in developing countries. We report the case of an infant of 1 year and 2 months old who presented for 15 days with convulsions with asthenia, hypotonia, without fever. The clinical examination and laboratory workup were without abnormalities. His father had ongoing pulmonary tuberculosis, but the infant had no clinical or radiological signs of pulmonary tuberculosis. A brain MRI was showed multiple punctiform brain lesions, suggesting intracerebral tuberculomas in the first place, given the clinical and radiological appearance and the father's history of tuberculosis. The patient was put on anti-convulsant and antibacillary treatment. Through this case, we can see the clinical and radiological polymorphism of cerebral tuberculoma. The diagnosis of certainty remains anatomopathological. The prognosis is poor when it is detected late.
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A tumoral calcinosis is a rare benign pathology characterized by calcium deposits (calcium phosphate crystals) in the periarticular soft tissues, giving a truly pseudotumor appearance. The same patients with tumoral calcinosis may have manifestation of hyperostosis hyperphosphatemia syndrome. The association is called Hyperphosphatemic familial tumoral calcinosis which is the case with our patient. We present a unique case of a 10-year-old female child without any notable history. No notion of consanguinity, a non-painful swelling of the right elbow for the last 3 years. She was presented with tumoral calcinosis in the context of familial hyperphosphatemic calcinosis tumor in which the diagnosis of lymphangioma was evoked and then redressed.
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Hemangiomas are the most common benign vascular neoplasms of infancy. Congenital hemangiomas proliferate in utero, and are fully formed at birth. They are usually solitary. Generalized forms are exceptional. The liver is the second most common site of hemangiomas after the skin. When >5 cutaneous hemangiomas are present, screening abdominal ultrasound is recommended. Based on the degree of liver parenchyma involvement, 3 hepatic hemangiomas' subtypes are defined: focal, multifocal, and diffuse. Hepatic hemangiomas' clinical presentation varies from asymptomatic to life-threatening. High output cardiac failure, consumptive coagulopathy, abdominal compartment syndrome, and liver dysfunction are possible complications. We report an unusual case of symptomatic congenital hemangiomatosis in a male infant born with innumerable generalized cutaneous hemangiomas whose screening abdominal ultrasound revealed multifocal hepatic hemangiomas with extensive mixed shunts. We aim to highlight this unique entity with severe associated complications and stress the role of imaging at initial presentation, for follow-up, and to guide therapeutic choices.
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Extramedullary hematopoiesis is a rare disorder in which hematopoietic cells proliferate in tissues other than the bone marrow as a result of a range of hematologic illnesses. Our case is unique in that it covers a number of extramedullary hematopoiesis sites in a 15-year-old girl, some of which are uncommon.
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Endometriosis is defined by the presence of functional ectopic endometrial tissue outside the uterine cavity, excluding the myometrium. It is a benign tumor that can infiltrate and cling to other organs, mimicking a malignant tumor. Umbilical endometriosis is a rare type of endometriosis that can occur naturally or as a result of a surgical operation. We report the case of a patient who experienced catamenial umbilical discomfort and whose radiological examination revealed endometriotic involvement.
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The vein of Galen aneurysmal malformation (VGAM) is a rare cerebral arteriovenous malformation that can be life-threatening if not diagnosed and treated early. VGAM usually presents in the neonatal period with high-output cardiac failure. We report the case of a full-term male neonate who presented with respiratory distress, and a fontanel bruit soon after birth. A chest radiograph revealed marked cardiomegaly. Transthoracic echocardiography showed dilatation of all four cardiac chambers and a patent ductus arteriosus. Transfontanellar doppler ultrasound and brain computed tomography confirmed the diagnosis of a VGAM. Clinical worsening took place despite aggressive hemodynamic and ventilatory support. The patient's Bicêtre Neonatal Evaluation Score for embolization was 2. Endovascular treatment could not be performed. The patient regretfully passed away. VGAM should be considered in the differential diagnosis of neonatal congestive heart failure with a structurally normal heart. Early diagnosis and treatment improve prognosis considerably.
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Teratomas are neoplasms of the embryonic tissues that typically arise in the gonadal and sacrococcygeal regions. Primary adrenal teratoma are extremely rare and only few cases were published in literature. Teratomas contain more than one embryonic germ cell layer, mostly elements derived from ectoderm and least frequently from endoderm. Though these tumors are mostly benign, malignant transformation may occur. Treatment includes surgical removal. We report a rare case of a primary mature retroperitoneal teratoma in an infant with liver metastasis. Imaging modality CT and MRI were useful in diagnosis. The diagnostic and therapeutic challenges of dealing with such a case have been discussed and the literature reviewed.