RESUMEN
BACKGROUND: Turner syndrome is the most common genetic disorder in females. In most subjects, with a normal physical appearance at birth, the diagnosis is suspected long after birth because of short stature, delayed puberty, primary or secondary amenorrhea or infertility. Abnormalities of liver function tests are reported in literature, with a prevalence ranging from 20% to 80%. In most subjects liver diseases are self-limiting, associated with obesity, hormonal therapy and autoimmune diseases. An association between Turner syndrome and cryptogenic liver disease has been reported. Abnormalities of liver function tests could be the unique sign of Turner syndrome in subjects with normal phenotypes. The histological picture of "fetal liver-like architecture" and "ductopenia" is of fundamental importance for the diagnosis of chromosomopathy. AIM: Review the causes of hypertransaminasemia by focusing on more rare as metabolic and genetic diseases. MATERIALS AND METHODS: We evaluated a 10 year old girl with a normal phenotype affected by chronic hypertransaminasemia and cholestasis, in whom a needle liver biopsy was performed after the most common causes of hypertransaminasemia were excluded. RESULTS: Liver histological evaluation revealed a smoldering colangiopathy with mild ductopenia and a fetal liver-like architecture. Turner syndrome, suspected on the basis of this histological picture, was confirmed by a pelvic ultrasound and a chromosome analysis. CONCLUSIONS: The histological features of "fetal liver-like architecture" and "ductopenia" represent an evocative sign that could indicate the diagnostic suspicion of Turner syndrome in a subject lacking in signs or symptoms of this disease. It is important to perform a pelvic ultrasound and an endocrinological evaluation in all females with chronic asymptomatic hypertransaminasemia even though they have normal phenotypes.
Asunto(s)
Feto/anatomía & histología , Hígado/patología , Síndrome de Turner/patología , Niño , Femenino , Humanos , Síndrome de Turner/diagnósticoRESUMEN
The purpose of this report is to evaluate the efficacy and safety of spiramycin/cotrimoxazole in the mother-to-child transmission of Toxoplasma gondii infection. We retrospectively analysed 76 infants born to mothers with toxoplasmosis during pregnancy and estimated the risk of mother-to-child transmission considering the gestational age at the time of infection. Seventy-six mothers were given spiramycin, cotrimoxazole and folinic acid; only two babies (2.6%) were infected by Toxoplasma and none of them showed signs or symptoms of congenital infection or interference of sulphamid on tetrahydrofolate reductase (THFR) either at birth or during follow-up. Treatment did not need to be stopped in any mother because of adverse drug effects. Our results seem to encourage the use of spiramycin/cotrimoxazole in women with toxoplasmosis during pregnancy.
Asunto(s)
Antiinfecciosos/uso terapéutico , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Complicaciones Parasitarias del Embarazo/prevención & control , Espiramicina/uso terapéutico , Toxoplasmosis/tratamiento farmacológico , Toxoplasmosis/transmisión , Combinación Trimetoprim y Sulfametoxazol/uso terapéutico , Animales , Antiinfecciosos/efectos adversos , Femenino , Humanos , Recién Nacido , Leucovorina/efectos adversos , Leucovorina/uso terapéutico , Embarazo , Estudios Retrospectivos , Espiramicina/efectos adversos , Toxoplasma/efectos de los fármacos , Combinación Trimetoprim y Sulfametoxazol/efectos adversosRESUMEN
Atypical onset of Kawasaki disease (KD) is a frequent problem leading to diagnostic mistake. Acute cholestasis and liver involvement occur occasionally as minor manifestation of KD. We report the case of a 6-year-old boy presenting fever, jaundice, abdominal pain, and ascites who subsequently developed typical KD clinical pattern just at the same time of echocardiographic coronary arteries anomalies. Abdominal radiological evaluation was normal and seroimmunologic markers resulted negative. Shortly after intravenous immunoglobulin and acetylsalicylic acid administration the clinical features disappeared. KD should be considered in differential diagnosis in children with cholestasis, abdominal pain and fever of unknown etiology.
Asunto(s)
Colestasis/diagnóstico , Colestasis/etiología , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/diagnóstico , Enfermedad Aguda , Antiinflamatorios no Esteroideos/uso terapéutico , Aspirina/uso terapéutico , Niño , Colestasis/tratamiento farmacológico , Diagnóstico Diferencial , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Factores Inmunológicos/uso terapéutico , Masculino , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Resultado del TratamientoRESUMEN
Interferon-treated patients can present seizures, which in most paediatric cases are related to fever. The case of chronic hepatitis C is described in which Interferon probably disclosed a latent epilepsy. The hypothesis is advanced that seizures can be provoked by Interferon therapy in subjects with a low convulsant threshold and, in those cases in which it cannot be substituted with another drug, antiepileptic therapy should be started after the first episode.
Asunto(s)
Antivirales/efectos adversos , Epilepsia/inducido químicamente , Hepatitis C Crónica/tratamiento farmacológico , Interferón-alfa/efectos adversos , Antivirales/uso terapéutico , Niño , Electroencefalografía , Epilepsia/diagnóstico , Humanos , Interferón-alfa/uso terapéutico , MasculinoRESUMEN
Jaundice is a less frequent sign in infectious mononucleosis, more often caused by hemolysis, rarely by hepatocytes damage. In subjects with erythrocyte plasmatic membrane defects such as spherocytosis, any infection could increase hemolysis. The authors describe the case of a young spherocytosis patient in whom Epstein-Barr virus caused an intense cholestatic jaundice and they discuss the possible damage mechanisms according to the recent studies on cholestasis pathogenesis.