Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The ...developmental defect is observed in Congolese hospitals, but risk factors are not well precised on the published case reports, which are more often focused on management. We aim in this paper to make a review on the condition, insisting on the risk factors of omphaloceles mainly of those of genetic origins.
Juvenile polyposis syndrome (JPS) is a rare genetic disorder due to germline mutations in BMPR1A or in SMAD4 that are both tumor suppressor genes. The main clinical manifestation is the presence of ...multiple hamartomatous polyps preferentially located in gastrointestinal tract, mostly in colorectal site. The polyps can degenerate and lead to inherited malignant tumors.
Among 3157 patients with malignant and benign tumors diagnosed in Brazzaville teaching hospital, 43 persons with polyposis in colorectal tube were recruited. The positive diagnosis was based on endoscopic examination, World Health Organization and JASS guidelines clinical criteria, histopathological analysis and next-generationsequencing of DNAs extracted from peripheral blood of the patients.
Among 43 patients having polyposis, two were male patients identified with JPS representing 4.65% of polyposis and 0.06% of all tumors. Histological examination revealed typical JPS features. In those two males, whole genome comparative microarray did not identify relevant copy number imbalances. DNA sequencing of a comprehensive gene cancer genes panel identified specific mutations in the BMPR1A and SMAD4 genes.
We have shown that BMPR1A and SMAD4 gene disorders are responsible for JPS in congolese patients as well and a novel mutation has been identified in one individual. As the condition predisposes highly to hereditary colorectal cancer, a comprehensive assessment of the JPS including genetic testing should be implemented in order to facilitate early diagnosis in Congo Brazzaville.
•The study is focused on Juvenile Polyposis Syndrome (JPS), a rare inherited condition due to BMPR1A or SMAD4 mutation which predisposes to colorectal cancer (CRC), a global public health problem.•A novel heterozygous mutation “c.435delG” in BMPR1A gene (not been reported previously) has been identified in African individual.•The work highlights clearly at the same time the distinctive phenotype and genetic features of the JPS.
Abstract Traumatic hip dislocation is a rare injury in children, and an open dislocation is exceptional. We report the case of a 7 year old patient who presented an open anterior dislocation of the ...left hip following trauma by accident of the public highway. The patient received treatment under general anesthesia: articular toilet, debridement and reduction. Then, He was put under traction for 6 weeks and antibiotic. The short term evolution is marked by the occurrence of post-traumatic septic arthritis and osteonecrosis of the femoral head after two months.
Abstract Objective Osteomyelitis is frequently localized on the fertile metaphysis of long bones. However, there are other locations such as short or flat bones. The aim of our study was to determine ...the diagnostic, therapeutic and evolutionary aspects of osteomyelitis of flat bones in our environment. Methods It's was a retrospective study conducted from January 2013 to December 2017; Children from 0 to 16 years admitted for osteomyelitis of a flat bone where included. Results We followed 19 patients who presented 20 locations of osteomyelitis on a flat bone. They accounted for 9.1% of all osteomyelitis observed during the study period. The average age was 6.7 years (9 months–14 years). The clinical picture most often associated with fever and local inflammatory swelling related to an abscess. The predominant locations were the sternum with 8 cases and the scapula with 4 cases. Eleven patients were homozygous sickle cell patients. The diagnosis was strengthened with standard radiography in the majority of cases. A micro-organism was isolated in 8 cases (40%) and Staphylococcus aureus was the predominant germ in 7 cases. Nearly all patients were treated with surgical drainage of the abscess, bone curettage and antibiotics. A typical radiographical evolution has been observed with bone reconstruction in 15 cases with a mean follow-up of 3.3 years. Conclusion Flat bones are relatively rare locations of osteomyelitis. Standard radiography remains the first-line examination. Their treatment obeys the same rules as that of osteomyelitis of long bones. There is a successful outcome when the care is early and adequate.
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