RESUMO
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 effective 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.
Assuntos
Hipercalcemia , Hiperparatireoidismo Primário , Cálcio/uso terapêutico , Homozigoto , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/etiologia , Hipercalcemia/terapia , Hiperparatireoidismo Primário/genética , Lactente , Recém-Nascido , Doenças do Recém-Nascido , Mutação , Receptores de Detecção de Cálcio/genéticaRESUMO
We report the first Australian use of the Impella LP 5.0, a minimally invasive, high-output left ventricular assist device. The device was inserted intra-operatively for cardiac failure following coronary artery grafting. Although it facilitated a temporary post-operative recovery, the patient ultimately succumbed due to left ventricular failure more than 30 days after the original procedure. This device has several advantages over existing forms of left ventricular support, and has the potential for widespread use in Australian centres.
