RESUMEN
Mitochondrial acetoacetyl-CoA thiolase deficiency (or beta-ketothiolase deficiency) is a rare metabolic disorder characterized by acute episodes of severe acidosis and ketosis. A case is presented of an 18-month-old boy who presented with vomiting and diarrhoea and was found to be markedly acidotic. When the acidosis persisted despite saline fluid boluses and bicarbonate correction, further investigations were undertaken. Routine biochemical investigation revealed detectable salicylate concentrations despite the parents denying its administration, which initially caused some diagnostic confusion. The results of urine organic acid analysis, however, confirmed that the diagnosis of mitochondrial acetoacetyl-CoA thiolase deficiency. The high concentrations of acetoacetate present in the patient's sample resulted in a false-positive reaction in the Trinder assay for salicylate.
Asunto(s)
Acetil-CoA C-Acetiltransferasa/deficiencia , Acidosis/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Cetosis/diagnóstico , Mitocondrias/enzimología , Salicilatos/sangre , Acetoacetatos/sangre , Ácidos/orina , Química Clínica/métodos , Reacciones Falso Positivas , Humanos , Lactante , Masculino , Factores de TiempoRESUMEN
A case is reported of a patient who presented to his family doctor with a short history of cough with signs and symptoms of thyrotoxicosis. Carbimazole treatment had little effect and his symptoms worsened to include severe shortness of breath. He was investigated further and found to have multiple lung and liver metastases from an unknown primary site. Biopsy and subsequent post-mortem investigations revealed a testicular tumour and a grossly elevated serum human chorionic gonadotrophin (hCG) concentration. The biochemical and clinical thyrotoxicosis is presumed to be due to the thyrotrophic activity of excess hCG secretion, in a situation analogous to that seen in hydatidiform mole or in hyperemesis gravidarum.
Asunto(s)
Carbimazol/farmacología , Neoplasias de Células Germinales y Embrionarias/fisiopatología , Respiración/efectos de los fármacos , Neoplasias Testiculares/fisiopatología , Tirotoxicosis/etiología , Antitiroideos/efectos adversos , Antitiroideos/farmacología , Carbimazol/efectos adversos , Gonadotropina Coriónica/sangre , Gonadotropina Coriónica/fisiología , Femenino , Humanos , Mola Hidatiforme/sangre , Mola Hidatiforme/fisiopatología , Hiperemesis Gravídica/sangre , Hiperemesis Gravídica/fisiopatología , Neoplasias Hepáticas/secundario , Neoplasias Pulmonares/secundario , Metástasis Linfática , Masculino , Embarazo , Tirotoxicosis/sangreRESUMEN
Sixty-one patients received a standardised anaesthetic and were randomly assigned to three groups: tracheal intubation via direct laryngoscopy, tracheal intubation via an intubating laryngeal mask airway with immediate removal of the device, and tracheal intubation via an intubating laryngeal mask airway with delayed removal. The cardiovascular response to intubation was of a similar magnitude in all groups, although delayed removal of the intubating laryngeal mask airway was associated with a second pressor response. Norepinephrine changed significantly over time following direct laryngoscopy and following immediate removal of the intubating laryngeal mask airway, but not after delayed removal. The findings of this study do not support using the intubating laryngeal mask instead of direct laryngoscopy purely to decrease the response to intubation.