RESUMO
We report the case of a newborn with aplasia cutis congenita characterized by the absence of skin in the left parietal region, superficial dilatation of the scalp veins, facial dysmorphia, limb anomalies, and severe intrauterine growth retardation. Maternal milk enabled the baby to gain weight, and dermatological treatment was performed for scarring of the vertex. Psychomotor development and stature were spectacular. This case illustrates the clinical variability of this condition and the need for multidisciplinary management.
RESUMO
Introduction: sickle cell disease is the most common inherited hemoglobin disease globally and remains a significant concern worldwide and in Africa. This study aimed to determine the clinical profile of children with sickle cell disease followed up in two hospitals in Bukavu. Methods: we conducted a cross-sectional multicenter retrospective study. Medical folders of children with sickle cell disease followed up at the Cliniques Universitaires de Bukavu and Clinique Ami des Enfants, collected from January 2018 to December 2019, have been used. Results: in 55 sickle cell children, 31 cases (54.4%) were male against 24 (43.6%) females. The average age was 101.09 months (between 12 and 222 months). Diagnosis has been established before two years, with an average age of 14.27 months. The main circumstance of the discovery of the disease is anemia. Electrophoresis was the primary test of diagnosis in 81.8% of cases. Transfusion was done an average of 5.98 times (0 and 10 times) during different treatment period. Anaemia and infectious phenomena were encountered respectively in 96.4% and 96.4%. However, acute chest syndrome was only found in 9.1%. Conclusion: sickle cell disease has been diagnosed precociously before two years and anemia was the main circumstance of discovery. A better knowledge of caregivers about the various clinical aspects and an early screening could improve the quality of life of these children.
