Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormalities, defective haematopoiesis, and a high risk of developing acute myeloid leukaemia, myelodysplastic syndrome and cancers. FA was first described in 1927 by the Swiss pediatrician Guido Fanconi. The diagnosis is based on morphological abnormalities, hematologic abnormalities (pancytopenia, macrocytic anemia and progressive bone marrow failure) and genetic tests (cariograma).
Case report: We present the case of a child with Fanconi anemia. Although skin and bone morphological abnormalities were present from birth, diagnosis was suspected at 11 years old.
Conclusions: Fanconi anemia is a heterogeneous condition that can present a variety of congenital defects but invariably results in defective haemopoiesis, which is the major cause of morbidity and mortality.
Polycythaemia vera is a disorder of the hematopoietic stem cell which manifests as the overproduction of normal erythrocytes and variable excess production of WBC and platelets. It is a myeloproliferative disease, grouped with the Philadelphia chromosome-negative disorders and it's very rare among children and teenagers. The thrombotic events are the most common complications due to hyper viscosity of the blood. The authors report the case of a 14-year-old girl who was admitted in hospital for abdominal pain in left quadrant and right hypochondrium. Workout findings reveal hepatosplenomegaly with an infarction of the inferior pole of the spleen and hepatic vein thrombosis (specific with Budd-Chiari syndrome).
Common variable immunodeficiency (CVID) is one of the most frequent types of primary immunodeficiency that manifest a great variability in symptoms and severity. We present a case of a 13 years old boy initially diagnosed with primary cellular immune deficiency (persistent lymphopenia) at the age of 3 years with repeated infections (staphylococcal infections, , herpes keratitis, onychomycosis, respiratory and digestive infections), afterward establishing the diagnosis of B polymorphic lymphoproliferation and common variable immunodeficiency 2-TACI mutation, which for he is transferred to a clinic in Rome, Italy, in order to establish therapeutic conduct.
Ovarian cancer is responsible for 1-2% of all childhood malignancies, in children up to 85% of ovarian malignancies are histologically found to be germ cell tumors. Yolk sac tumors are the second most common subtype of germ cell tumors, they are aggressive rapidly growing and with frequent metastasis to other organs, and associated with elevated levels of alpha-fetoprotein. We present the case of an 11-year-old girl that was admitted to our hospital for abdominal pain, and a large abdominal tumor that occupied the whole hypogastric region of the abdomen. MRI showed a right ovarian tumor; tumor markers were obtained prior to surgery. Histological diagnosis of ovarian Yolk Sac Tumor was made and the patient was scheduled for chemotherapy. The patient and family interrupted all medical treatment and follow-up, presenting 5 months later, with recurrence on the contralateral ovary. Even if the ovarian yolk sac tumor has a good survival rate, the delay in starting chemotherapy and lack of compliance to treatment can give it a poor prognosis, and lead to recurrence or metastasis.
RabdomiosaRcomul alveolaR mimând leucemia acută la o adolescentă cu tromboză venoasă profundă-caz clinic Şef. lucr. dr. daniela vodă 1,2 , dr. anca corina leonte 1 , dr. carmen oţelea 1 , Şef. lucr. dr. anca maria ilea 1,2
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