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Infantile Spinal Muscular Atrophy at the Albert Royer National Children’s Hospital Center in Dakar

Open Journal of Pediatrics 2024年第3期14卷 514-521页

作者： Guillaye Diagne Khadim Bop sofiatou dieye Arame Faye Fatou Ly Amadou Lamine Fall Pediatrics Ward of Pikine Hospital Pikine Senegal Pé diatrics Ward of Albert Royer National Hospital Dakar Senegal

Introduction: Infantile spinal muscular atrophy (ISA) is an autosomal recessive disease caused by primary degeneration of cells in the anterior horn of the spinal cord, leading to muscle weakness and hypotonia. Its incidence is estimated at 1 in 6000 births worldwide. In Africa, particularly in Senegal, there are few studies interested on this pathology. We therefore deemed this study necessary, which set itself the objective of describing the diagnostic, therapeutic and progressive aspects of infantile spinal muscular atrophy at the Albert Royer National Children’s Hospital Center in Dakar (CHNEAR). Methodology: We conducted a retrospective descriptive study over a period of two (2) years from December 2020 to December 2022. Included were all hospitalized patients in whom the diagnosis of spinal muscular atrophy was made with or without genetic confirmation. The data were collected on a pre-established form then entered and analyzed with the following software: Excel 2013 and R version 4.1.3. Results: During our study period, 2100 children were hospitalized, the annual incidence was 0.76%. The average age of our patients was 9 ± 9 months with a range of 3 months to 32 months and the median was 6.5 months. The sex ratio was 7. The notion of family consanguinity was found in 62.5% of cases and the notion of ISA in the family in 25% of cases. Hypotonia and respiratory distress were found at the forefront in equal proportions (50% of cases). Electromyogram (EMG) was performed in 3 patients (37.5%). Symptomatic medical treatment was administered in 100% of patients, 04 patients had benefited from respiratory physiotherapy, i.e. 50% of cases, and genetic counseling was carried out in one patient (12.5%). The evolution was immediately favorable in 2 patients or 25% of cases, unfavorable in 75% of cases with a death rate of 50% and the average age of death was 5.5 months ± 1 with extremes ranging from 3 to 7 months. Conclusion: The number of Infantile spinal muscular atrop

关键词： Spinal Muscular Atrophy Child Hypotonia Dakar

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Infantile Spinal Muscular Atrophy at the Albert Royer National Children’s Hospital Center in Dakar

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Open Journal of Pediatrics（儿科学期刊） 2024年第3期 514页

作者： Guillaye Diagne Khadim Bop sofiatou dieye Arame Faye Fatou Ly Amadou Lamine Fall

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Pelvic Tuberculosis Simulating an Ovarian Tumor at a Stage of Peritoneal Carcinosis

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Open Journal of Obstetrics and Gynecology 2021年第10期11卷 1317-1322页

作者： Mohameth Mbodj Idrissa D. Ba Yaay Dior K. B. Dieng Fatim Tall Amadou Sow Serigne T. Ndiaye Guilaye Diagne Khadim Bop Pape S. Sow sofiatou dieye Sadio Konaté Ibrahima Diop Aziz Faye Amadou L. Fall Ousmane Ndiaye Albert Royer National Children Hospital Dakar Senegal Cheikh Anta DIOP University Dakar Senegal Abass Ndao Hospital Center Dakar Senegal

Tuberculosis is a global public health problem with 10 million people developing an active form each year. The exact incidence of the pelvic form of tuberculosis is not known due to under-reporting of asymptomatic cases, vague symptomatology and lack of reliable diagnosis. We report a case of ovarian tuberculosis mimicking cancer and peritoneal carcinosis. The case involved a 15-year-old girl, hospitalized for severe pelvic pain and secondary amenorrhea. The examination showed an altered general state, a fever, a sensitive distended abdomen. The biology showed an elevation of Ca125 to 357 IU/ml. The CT scan showed a latero-uterine mass taking contrast in a heterogeneous way with an irregular and nodular thickening of the peritoneum making evoke a peritoneal carcinosis. Exploratory laparotomy found a bilateral ovarian mass with ileo-ileal, ileo-parietal and ileo-ovarian adhesions. Biopsy of the mass and the peritoneum showed a caseo-follicular gigantocellular epitheloid granulomatosis.

关键词： Tuberculosis Granulomatosis Carcinosis Ca125

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