Abstract Background Immune deficiency in human might be primary or secondary and could be seen with a wide variety of manifestations. In the following, we presented a Child with various complains that diagnosed to have HIV infection. Case Report A 2/5 y/o child was admitted to the hospital for FUO with prolonged cough, FTT, cervical lymphadenopathy, hepatosplenomegaly and bilateral opti...

Hereditary tyrosinemia type 1 is an inborn error of metabolism that affects numerous organs, particularly liver, kidneys and peripheral nerves. It usually presents in infants less than six months age with features liver failure, hepatoblastoma or hepatocellular carcinoma. Diagnosis by a combination clinical, biochemical imaging features. We report here the case four old infant presenting massiv...

a 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. peripheral blood smear examination did not show giant granules in granulocytes....

A case report of histiocytosis X in a 2 years old in­faut, primarily admitted a for jaundice is discussed. Major clinical manifestations included: Jaundice, bi­lateral otitis media. pallor and loss of weight. Clinical examination revealed hepatosplenomegaly. lymphadenopathies and sever anemia. Seborrr.eic eruptions and ptechias appeared over the scalp and other parts of body surface a few days ...

Összefoglaló. A Niemann–Pick-betegség autoszomális recesszíven örökl?d? lizoszomális tárolási betegség, amelynek hátterében a savi szfingomielináz enzim hiánya vagy csökkent aktivitása (A-, A/B- és B-típus), illetve Niemann–Pick C intracelluláris koleszterintranszporter fehérje deficientiája (C- D-típus) állhat. defektus következtében szfingomielin koleszterin halmozódik fel sejtek lizoszómáiba...