Résumé
Liver function tests (LFT) are a helpful screening tool, which are an effective modality to detect hepatic dysfunction. Since the liver performs a variety of functions so no single test is sufficient to provide complete estimate of function of liver. Often clinicians are faced with reports that do not tally with the clinical condition of the patient and they face difficulty in interpreting the LFT. An attempt is being made to study and understand the LFT and simplify their interpretation with algorithms.
Sujets)
Humains , Maladies du foie/diagnostic , Tests de la fonction hépatiqueRésumé
We report a 51-day-old infant with congenital intrahepatic porto-systemic venous shunt associated with galactosemia, who presented with cholestatic jaundice. He was treated with ursodeoxycholic acid, calcium supplements and galactose-free diet. The child was asymptomatic six weeks later.
Sujets)
Calcium alimentaire/usage thérapeutique , Association thérapeutique , Diagnostic différentiel , Galactose/administration et posologie , Galactosémies/diagnostic , Humains , Nourrisson , Ictère rétentionnel/étiologie , Foie/vascularisation , Mâle , Veine porte/malformations , Échographie-doppler couleur , Acide ursodésoxycholique/usage thérapeutique , Veine cave inférieure/malformationsRésumé
Mitochondrial neurogastrointestinal encephalomyopathy is a rare disorder affecting the pediatric age group with a heterogeneous multisystem involvement. We happen to manage a young child with symptoms of constipation since infancy along with cachexia, seizures and peripheral neuropathy. The child later went into encephalopathy preterminally. This clinical syndrome fitted very well with mitochondrial neurogastrointestinal encephalomyopathy. The child had elevated lactate levels and electron microscopy of the rectal biopsy was suggestive of a mitochondrial disorder To the best of our knowledge there is no case report of this syndrome from India and since this presents with diagnostic difficulties so is being reported.
Sujets)
Biopsie , Enfant , Diagnostic différentiel , Maladies gastro-intestinales/complications , Humains , Pseudo-obstruction intestinale/complications , Acide lactique/sang , Mâle , Microscopie électronique , Encéphalomyopathies mitochondriales/complications , Neuropathies périphériques/complications , Rectum/anatomopathologie , SyndromeRésumé
Pancytopenia is a very rare condition associated with hepatitis A infection. We managed a 12 year old boy who had hepatitis A infection with anemia. His hemogram and bone marrow examination were suggestive of pancytopenia. Pancytopenia recovered without any specific therapy. There are case reports of severe aplastic anemia with hepatitis A infection that required immunosuppressive therapy. The present case did not require any aggressive therapy and recovered. In a young child with hepatitis A infection and anemia, bone marrow depression should be suspected. The pancytopenia may be transient as exemplified by the present case.