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Fetal intracranial teratoma presents a rare and devastating diagnosis. Typically, this condition is first detected during routine prenatal ultrasounds, appearing as an irregular heterogeneous lesion. Further insights are gained through fetal magnetic resonance imaging (MRI), better characterizing the anomaly. The combination of these modalities provides detail-oriented high resolution MRI images, while follow-up ultrasounds capture dynamic growth changes, serving as a cost-effective and easily accessible adjunct. This fast-growing tumor leads to macrocephaly and ventriculomegaly, causing severe distortion of the brain parenchyma. Early detection is crucial for effective fetal management and preventing maternal complications. Unfortunately, treatment options are limited due to the tumor's aggressive nature, typically resulting in fetal demise shortly after birth. Here, we present the sonographic and MRI findings of a congenital intracranial teratoma, reaching massive proportions and replacing the entire cerebral hemisphere.
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Hyperparathyroidism (HPT) is a rare endocrine disorder in the pediatric population. Patients often present with bone pain and abnormal gait along with biochemical findings of hypercalcemia, hypophosphatemia, and elevated parathyroid hormone (PTH). HPT is most commonly due to the unregulated secretion of PTH from a parathyroid adenoma. Diagnosis is usually identified with sonography and scintigraphy to localize parathyroid anomalies. Treatment traditionally involves parathyroidectomy with postoperative monitoring of serum calcium and phosphate levels. Here we present a case of a preadolescent girl with metabolic bone disease secondary to hyperparathyroidism.
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Encapsulating peritoneal sclerosis (EPS) is a rare, but sometimes fatal, complication of peritoneal dialysis characterized by diffuse thickening and encapsulation of the bowel and peritoneum. In more advanced cases, the peritoneum will gradually calcify. EPS usually presents as partial small bowel obstruction and diagnosed on imaging studies. We present a case of a 19-year-old female on long-term peritoneal dialysis with EPS and diffuse peritoneal calcifications.
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Mucoepidermoid carcinoma (MEC) is an uncommon type of salivary gland tumor that can present as an endobronchial neoplasm, most commonly in the adult population. Neuroendocrine carcinoid tumors comprise the majority of bronchial neoplasms in the pediatric population and are nearly indistinguishable from MEC on imaging. We present a rare case of MEC in a 3-year-old presenting with recurrent symptoms of lower airway obstruction and discuss its typical associated symptoms and imaging features.
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Cystic dysplasia of the rete testis is a rare benign abnormality seen in the pediatric population. Diagnosed by scrotal ultrasonography, this lesion is often associated with congenital renal tract anomalies, most commonly ipsilateral renal agenesis or multicystic dysplastic kidney. Treatment traditionally involves orchiectomy or testicular sparing surgery; however, conservative treatment with surveillance has been used as an appropriate alternative. We present the case of a 5-year-old boy with cystic dysplasia of the rete testis with associated unilateral renal agenesis.
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Fibrolipomatous hamartoma is a rare benign congenital overgrowth of fibroadipose tissue in the nerve sheath. While usually affecting the median nerve, the digits of the hands and feet are sometimes affected and may result in macrodactyly, which is referred to as macrodystrophia lipomatosa. We present a rare case of fibrolipomatous hamartoma in a 6-week-old female's foot with macrodactyly and syndactyly and discuss its presentation and radiologic features.
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Adenomyomatosis of the gallbladder is an acquired condition of the gallbladder with epithelial, mucosal, and muscular hypertrophy. The result is usually gallbladder wall thickening with associated diverticula known as Rokitansky-Aschoff's sinuses. These mucosal invaginations of the gallbladder wall may extend beyond the muscular layer. The condition is typically asymptomatic and is predominantly diagnosed in adults between 50 and 60 years of age, usually with concomitant cholelithiasis, motility disorders, or chronic inflammation. Few cases within the literature have been described in the pediatric population and even fewer within this subset have been diagnosed in infants. We describe a case of a 3-month-old male with failure to thrive, persistent nonbilious, nonbloody emesis, and elevated transaminases with ultrasound evidence of gallbladder adenomyomatosis. The patient was managed with outpatient laboratory monitoring and follow-up imaging.
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A 10-year-old female with neurofibromatosis type 1 and severe dystrophic scoliosis presented with a two-month history of difficulty ambulating due to low back pain. The patient did not have any neurological symptoms. MRI of the thoracolumbar spine demonstrated subluxation of the right posterior tenth and eleventh ribs through their respective neural foramina, with mild mass effect on the thecal sac without abnormal cord signal or cord compression. Groups of neurofibromas were present along the right ribs and paravertebral soft tissues around these levels. CT evaluation was completed for greater osseous definition. Cases of rib head dislocation into the central canal in the setting of dystrophic scoliosis were documented in only a limited sample of case reports. The angulated short-segment curvature in dystrophic scoliosis causes vertebral body rotation, foraminal enlargement, spindling of transverse processes, and penciling of the apical ribs. These changes can alter the articulation of the rib along the transverse process. The enlarged foramina can also create a larger space into which a rib may displace. As a result, in most reported cases, the subluxed ribs were on the convex apex of the curve in the mid-to-lower thoracic region. The risk of cord injury from rib head dislocation makes the complete depiction of the anatomy essential for proper surgical management.
Assuntos
Luxações Articulares/diagnóstico por imagem , Neurofibromatose 1/complicações , Costelas , Escoliose/diagnóstico por imagem , Compressão da Medula Espinal/diagnóstico por imagem , Estenose Espinal/diagnóstico por imagem , Criança , Constrição Patológica , Feminino , Humanos , Luxações Articulares/complicações , Luxações Articulares/cirurgia , Dor Lombar , Limitação da Mobilidade , Neurofibromatose 1/diagnóstico por imagem , Escoliose/etiologia , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/cirurgia , Fusão Vertebral/instrumentação , Fusão Vertebral/métodos , Estenose Espinal/etiologia , Estenose Espinal/cirurgiaRESUMO
Intracranial dermoid cysts are rare tumors derived from ectopic epithelial cells. They are slow-growing benign entities, but can cause significant morbidity through compression of neurovascular structures and, rarely, rupture into the subarachnoid space. We present a rare case of a spontaneously ruptured intracranial dermoid cyst presenting as new onset seizures due to chemical meningitis caused by dissemination of fat droplets.