The features of Sprengel's deformity, also known as congenital high scapula, include abnormal positioning and dysplasia of the affected scapula, with a possible omovertebral connection or atrophy of the surrounding muscles. This case primarily aims to present the CT scan findings of a 19-year-old male with Sprengel deformity. Imaging enables the definitive diagnosis of this congenital malformation, and allows for the detection of associated anomalies, particularly the presence of the omovertebral bone, thereby facilitating appropriate management.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFOptic nerve coloboma is a congenital defect caused by the incomplete closure of the embryonic fissure. This closure begins around the fifth week of gestation, when the embryo measures approximately 7 to 14 mm. Colobomas may appear as isolated defects or alongside other ocular and systemic abnormalities.
View Article and Find Full Text PDFAdrenal gland cysts are rare and uncommon manifestations. Mostly asymptomatic, discovered incidentally during radiological studies or at autopsy, or without characteristic symptoms. The spectrum of these entities may include benign cysts or malignant cystic neoplasms.
View Article and Find Full Text PDFNephrogenic rests (NRs) are foci of embryonic nephrogenic cells that persist beyond the 36th week of gestation. They are precursor lesions of Wilms tumor and are found incidentally in approximately 1% of infants. The term nephroblastomatosis (NBS) is utilized when nephrogenic rests extensively or multifocally affect the kidneys.
View Article and Find Full Text PDFInfantile myofibromatosis (IM) is a mesenchymal tumor that may present in infants in a couple of major forms: solitary (myofibroma) and multicentric (myofibromatosis) which can be more subdivided into IM without or with visceral involvement. The tumors present as nodular lesions in the soft tissues, bones, and/or internal organs. Although the success of imaging in suggesting the correct diagnosis can't be denied, histopathology and Immunohistochemical examinations are necessary to confirm the diagnosis of IM as it might be misdiagnosed as a malignant tumor.
View Article and Find Full Text PDFAcute disseminated encephalomyelitis (ADEM) is an acute and rapidly progressive auto-immune demyelinating disorder in the central nervous system. It is a rare disease but is more frequently observed in the pediatric population. We report a case of a monophasic postvaccination ADEM, which presented with paraparesis associated with fever.
View Article and Find Full Text PDFGlob Pediatr Health
September 2023
Neuroblastomas commonly metastasize to the cranium and orbit, although other facial bones were less implicated. In this report we present a 3 years old child with metastatic neuroblastoma to the mandible that presented with swollen right jaw. The first assessment of the head with computed tomography revealed soft tissue mass with permeative lytic changes of the osseous structures centered on the right mandible, as well as osteo-meningitis metastases.
View Article and Find Full Text PDFSpinal cord cavernous malformation is a rare and uncommon vascular malformation, it may remain asymptomatic for a long period or manifest as a sudden or gradual change in spinal cord functioning. The diagnosis relies essentially on magnetic resonance imaging (MRI). Surgery constitutes the majority of management with all the complications that can occur during and after surgery.
View Article and Find Full Text PDFNeurofibromatosis type 2 (phacomatosis) is a rare inherited autosomal dominant condition defined by the development of numerous central neuronal tumors. In addition to classic intracranial schwannomas, intracranial and spinal meningiomas, and intramedullary ependymomas, it can be associated with a few cutaneous abnormalities. In this report, we discuss the case of a 21-year-old female who was examined for persistent headache with cutaneous masses and bilateral hearing loss.
View Article and Find Full Text PDFDisseminated peritoneal leiomyomatosis (DPL) or leiomyomatosis peritonealis disseminata is a sporadic benign disease characterized by several solid peritoneal smooth muscle nodules that proliferate along the abdominopelvic cavity. The source of the condition is undetermined, although suspected causes include iatrogenic and hormonal stimulation. It primarily affects women of reproductive age.
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