RESUMO
A 16-year-old boy with epilepsy developed hypertrophy of the submandibular salivary glands, with high phenytoin (PHT) serum levels. The submandibular salivary glands became normal in 12 days after discontinuation of PHT. Other causes of salivary gland hypertrophy were excluded and we suggest that the hypertrophy was due to PHT.
Assuntos
Epilepsia Parcial Complexa/tratamento farmacológico , Fenitoína/efeitos adversos , Doenças das Glândulas Salivares/induzido quimicamente , Glândula Submandibular/patologia , Adolescente , Humanos , Hipertrofia/patologia , MasculinoRESUMO
Patients with 3-hydroxy-3-methylglutaric aciduria due to a deficiency of 3-hydroxy-3-methylglutaryl Coenzyme A lyase usually present with a life-threatening crisis of hypoglycemia, metabolic acidosis and hyperammonemia. Diagnosis of this inborn error of leucine degradation is usually based upon gas-chromatographic analysis of organic acids in a patient's urine. In this paper we describe a simple spectrophotometric method allowing the activity of HMG-CoA lyase to be measured in leukocytes or platelets within a few hours, thus contributing to a rapid, unequivocal diagnosis and subsequent treatment. The validity of the method was established by demonstrating a deficient activity of HMG-CoA lyase in two patients with 3-hydroxy-3-methylglutaric aciduria. Furthermore, using this method, heterozygote detection can be done with great reliability.
Assuntos
Plaquetas/enzimologia , Leucócitos/enzimologia , Oxo-Ácido-Liases/deficiência , Pré-Escolar , Feminino , Humanos , Concentração de Íons de Hidrogênio , Lactente , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/sangue , Erros Inatos do Metabolismo/diagnóstico , Oxo-Ácido-Liases/sangue , Espectrofotometria/métodosRESUMO
We describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs. Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present. Comparison with earlier described short-rib/short-rib-polydactyly syndromes suggest that the disorder present in our two cases is a new type of short-rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real-time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short-rib syndrome may be an autosomal recessive disorder.
