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.
Introduction: Heterozygous β-thalassemia represents the mild form of the β-thalassemic syndromes, being compatible with normal lifetime. The importance of β-thalassemia consists in the fact that it maintains the "defective gene" in the population, favoring the appearance of new cases of Cooley's anaemia, the severe form of β-thalassemic syndromes. Current data estimate that 7% of the world's population is bearing β-thalassemia, over 400,000 children with β thalassemia being born annually, therefore the WHO estimates the doubling of this figure in the coming years.
Material and methods: We carried out a retrospective clinical study of over 450 cases diagnosed with β-thalassemia in the Dolj, Constanța and Vâlcea counties, along a period of 10 years (2001-2010), out of which we analyzed the family tree of 10 cases throughout 3-4 generations, starting from the cases of children diagnosed with β-thalassemia.
Results: The number of heterozygous subjects that emerged over 3-4 generations was of 60 cases with β-thalassemia and 9 cases with Cooley's anaemia. Thus, starting from the 10 cases of β-thalassemic married subjects (great grandfathers/great grandmothers, grandfathers/ grandmothers) along 3-4 generations (over a period of 70-80 years) the number of new β-thalassemia cases was 5.4 times higher.
Conclusions: According to our results, the last generation of the studied children and adolescents shows the presence of a total of 18 subjects with β-thalassemia, suggesting the increasing amount of heterozygotes in the population.
Background: Primary pulmonary tuberculosis in children and infants can be suggested by the presence of a wheezing, often interpreted as acute bronchiolitis or asthma. The objective of this study is to assess the frequency and mechanism of wheezing in infants and toddlers with tuberculosis and to assess its value as an alarm symptom in children from areas where tuberculosis incidence is high.
Material and method: We carried out a retrospective study in the Pediatric Clinic of the ”Filantropia” Municipal Hospital Clinic of Craiova between 2007-2011. We studied 25 children and infants, who at hospitalization presented signs like: wheezing, cough and dyspnoea.
Results: There were 25 children and infants diagnosed with primary tuberculosis. Twenty-one cases (84%) came from rural areas and 56% (14 cases) occurred in infants. Out of the 25 cases, 22 (88%) presented wheezing, 18 (72%) were accompanied by dyspnoea and 16 patients (64%) presented cough. The majority of cases (16 out of 25, representing 64%) came from families in which a tuberculosis focus was identified during the epidemiological investigation. Conclusions: The positive epidemiological research, together with other data provided by the clinical, laboratory analyses and the collaboration with other specialties determine the classification of wheezing as a symptom within tuberculosis.