RESUMEN
Neonatal severe hyperparathyroidism is a rare disorder arising from inherited defects in the calcium sensing receptor (CaSR) that presents early in life with severe hypercalcemia, failure to thrive, and developmental retardation. The authors describe an infant with neonatal severe hyperparathyroidism due to homozygous CaSR gene mutation presenting with recurrent episodes of severe hypercalcemia, growth retardation, and developmental delay. Medical management served as an efective bridge therapy to surgery. Total parathyroidectomy with right hemithyroidectomy was performed at 7 mo of age and resulted in successful cure and normalization of growth and developmental milestones. Timely medical and surgical management can help prevent mortality and morbidity in the form of neurodevelopmental sequelae. Life-long monitoring and treatment is mandatory for the resultant hypoparathyroidism.
RESUMEN
We hereby report the occurrence of mediastinal liposarcoma in a 11-year-old female child. Dyspnea and wheezing of long-standing duration were the presenting complaints and a preoperative biopsy failed to yield the diagnosis. Histologic examination revealed heterogeneous areas with well-differentiated liposarcoma-like areas, areas resembling myxoid liposarcoma, and areas of dedifferentiation. Osteosarcomatous foci and whorled areas reminiscent of meningioma were identified in the dedifferentiated areas. Liposarcomas in the mediastinum are extremely rare tumors of childhood and the present case showed unusual histologic features. Complete surgical excision with clear surgical margins remains the primary modality of treatment, although chemotherapy and radiotherapy have been tried.
RESUMEN
This case describes a contiguous mediastinal and retroperitoneal mature teratoma in a congenital diaphragmatic defect, a combination that is hitherto unreported in literature. It substantiates embryological chronology of events during the cephalad migration of the primordial germ cells through the developing diaphragm, prior to its closure.
Asunto(s)
Medios de Contraste/diagnóstico , Diagnóstico Diferencial , Hernia Diafragmática/congénito , Hernia Diafragmática/cirugía , Humanos , Lactante , Masculino , Neoplasias del Mediastino/diagnóstico por imagen , Neoplasias del Mediastino/cirugía , Neoplasias Retroperitoneales/diagnóstico por imagen , Neoplasias Retroperitoneales/cirugía , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Tomografía Computarizada por Rayos X , Biomarcadores de Tumor/sangreRESUMEN
Gastropleural fistula is an uncommon entity, especially in children. Here we report a 7-year-old child who developed gastropleural fistula as a complication of empyema thoracis. The child was also diagnosed to have chronic granulomatous disease.
Asunto(s)
Niño , Empiema Pleural/complicaciones , Fístula Gástrica/etiología , Humanos , Masculino , Enfermedades Pleurales/etiología , Fístula del Sistema Respiratorio/etiologíaRESUMEN
Extralobar pulmonary sequestration is a rare pulmonary parenchymal anomaly which rarely may be present in an intra-abdominal location. The authors report a case of intra-abdominal extralobar pulmonary sequestration which presented to us as an antenatally diagnosed suprarenal mass and was worked up as such. The diagnosis was revealed only at laparotomy. Intra-abdominal extralobar pulmonary sequestration should also be kept in differential diagnosis in cases of masses in the suprarenal location, especially on the left side.