RESUMO
Bladder exstrophy is a rare and complex malformation. Often associated with diverse deformations, an accurate diagnosis is a must for adequate management. In the African setting, especially in a remote area, delivery rarely occurs within a healthcare structure, thus reducing the chance of an early diagnosis. Due to a low density of specialists, people in rural areas refer to traditional healers for healthcare problems, the thing that delays the time to diagnosis. We report, according to the CARE guidelines (https://www.equator-network.org/reporting-guidelines/care/), a case of an 18-year-old male patient who was transferred to us for better management of a reddish hypogastric mass leaking urine. Initially considered as a congenital wound, his parents applied traditional products to heal it. Following the poor outcomes, the parents will consult several general physicians; unfortunately, no one gave a clear diagnosis. The clinical examination on admission revealed a good general condition and noted the presence of a reddish, ovoid structure of about 9 centimeters of the minor axis and 11 centimeters of the major axis in the hypogastric region allowing urine to flow in its upper part. The external genitalia examination revealed a retracted and short penis with urine exit at its base through the reddish structure. The patient was transferred outside the country for better management due to a lack of dedicated equipment. Although vesical exstrophy is a rare disease, an early diagnosis allows adequate management and good outcome. Thus, a well-performed neonatal examination is required to avoid later diagnosis and complications.
RESUMO
BACKGROUND: Recent case reports described three cases of holoprosencephaly (HPE) in the area with high mining-related pollution of the southern region of the Democratic Republic of the Congo (DRC). We reported two male neonates with clinically diagnosed HPE in the localities of Fizi and Kitutu, two mineral areas in the Eastern region of the same country (DRC), where artisanal surface mining is predominant with high exposure to radiation and heavy metals from mining. CASES' PRESENTATIONS: Two newborns from adult and multigravida mothers without pregnancy complication. The birth weights were 3,200 g and 2,500 g, respectively, and the malformations noticed were essentially the single median eye, the absent nose, polydactyly for one case, and proboscis for the other case. They both died a few minutes later after birth. CONCLUSION: The etiologic factors of HPE remain unknown but seem to be multifactorial from both genetic and environmental factors. We hypothesize under reserve for these two cases that mining and radiation expositions were likely potential environmental associated factors to the occurrence of these malformations.