Introduction:?Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency ...Introduction:?Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency is characterized by a cortisol deficiency and an excess of androgens, with or without aldosterone deficiency. In our countries, in the absence of neonatal screening, the diagnosis is most often late leading to life-threatening complications. The aim of this study was to describe the diagnostic features of CAH at the Albert Royer National Children’s Hospital (ARNCH) in Dakar.?Patients and method:?We conducted a retrospective, descriptive study carried out at the pediatric endocrinology department of ARNCH from 2015 to 2019. All children aged under 15 with a form of CAH were included. Socio-demographic data, family history, clinical and biochemical data at presentation were collected. Patients were noted as presenting with Disorder of Sexual Development (DSD) with dehydration, DSD without dehydration, dehydration without DSD, precocious puberty. The Prader’s scale was used to determine the degree of external virilization. These data were entered and analyzed with Epi Info version 7.2.?Results:?A total of 32 patients were included, representing 74.41% of the causes of disorder of sexual development (DSD) and 84.21% of the causes of adrenal insufficiency. These were 27 girls (84.37%) and 5 boys (15.63%). The mean age was 19 ± 34.6 months. DSD was the main finding (87.5%). It was associated with dehydration in 22 cases (68.75%). 21-hydroxylase deficiency represented 93.75% of the cases with salt wasting in 73.33% of the cases.?Conclusion:?The diagnosis of CAH was delayed leading to life-threatening adrenal crises. In the absence of neonatal screening for CAH in Senegal, there is a need to train healthcare workers to recognize neonates with DSD early and refer them timeously for specialist care.展开更多
Kaposi’s Disease or Kaposi’s Sarcoma (SK ) is a multifocal malignant proliferation induced by viral growth factors, including interleukin 6 of human herpes virus type 8 (HHV8). We describe four forms of this disease...Kaposi’s Disease or Kaposi’s Sarcoma (SK ) is a multifocal malignant proliferation induced by viral growth factors, including interleukin 6 of human herpes virus type 8 (HHV8). We describe four forms of this disease who poses a real public health problem in East and Central Africa. The purpose of our observation was to report a rare condition in a Senegalese HIV-positive child. It was an 11-year-old girl from a region in central Senegal. She was an orphan of both parents, tested and monitored since the age of 5 for HIV infection 1. She was on the 1st line protocol. Due to a lack of support and good observance, she was referred to us at the age of 11 for follow-up in our structure in the suburbs of Dakar. The initial follow-up assessment showed a very low CD4 count and a very high viral load. Before the lack of clinical and immune-virological response, a genotypic resistance test was performed and showed immunological and virological failure. The initial development was marked by the appearance of lesions which were highly suggestive of Kaposi’s disease. She was on 2nd line treatment. The histopathological aspect of cutaneous biopsy was very suggestive of Kaposi’s disease. The subsequent course after ART and bleomycin treatment was clinically marked by regression of skin lesions. Virologically, it was marked by a fall in the viral load. Immunologically there was a gradual recovery of CD4 levels which came back to normal. Our observation demonstrates that absence of effective antiretroviral therapy for HIV increases the risk to develop Kaposi’s sarcoma.展开更多
文摘Introduction:?Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency is characterized by a cortisol deficiency and an excess of androgens, with or without aldosterone deficiency. In our countries, in the absence of neonatal screening, the diagnosis is most often late leading to life-threatening complications. The aim of this study was to describe the diagnostic features of CAH at the Albert Royer National Children’s Hospital (ARNCH) in Dakar.?Patients and method:?We conducted a retrospective, descriptive study carried out at the pediatric endocrinology department of ARNCH from 2015 to 2019. All children aged under 15 with a form of CAH were included. Socio-demographic data, family history, clinical and biochemical data at presentation were collected. Patients were noted as presenting with Disorder of Sexual Development (DSD) with dehydration, DSD without dehydration, dehydration without DSD, precocious puberty. The Prader’s scale was used to determine the degree of external virilization. These data were entered and analyzed with Epi Info version 7.2.?Results:?A total of 32 patients were included, representing 74.41% of the causes of disorder of sexual development (DSD) and 84.21% of the causes of adrenal insufficiency. These were 27 girls (84.37%) and 5 boys (15.63%). The mean age was 19 ± 34.6 months. DSD was the main finding (87.5%). It was associated with dehydration in 22 cases (68.75%). 21-hydroxylase deficiency represented 93.75% of the cases with salt wasting in 73.33% of the cases.?Conclusion:?The diagnosis of CAH was delayed leading to life-threatening adrenal crises. In the absence of neonatal screening for CAH in Senegal, there is a need to train healthcare workers to recognize neonates with DSD early and refer them timeously for specialist care.
文摘Kaposi’s Disease or Kaposi’s Sarcoma (SK ) is a multifocal malignant proliferation induced by viral growth factors, including interleukin 6 of human herpes virus type 8 (HHV8). We describe four forms of this disease who poses a real public health problem in East and Central Africa. The purpose of our observation was to report a rare condition in a Senegalese HIV-positive child. It was an 11-year-old girl from a region in central Senegal. She was an orphan of both parents, tested and monitored since the age of 5 for HIV infection 1. She was on the 1st line protocol. Due to a lack of support and good observance, she was referred to us at the age of 11 for follow-up in our structure in the suburbs of Dakar. The initial follow-up assessment showed a very low CD4 count and a very high viral load. Before the lack of clinical and immune-virological response, a genotypic resistance test was performed and showed immunological and virological failure. The initial development was marked by the appearance of lesions which were highly suggestive of Kaposi’s disease. She was on 2nd line treatment. The histopathological aspect of cutaneous biopsy was very suggestive of Kaposi’s disease. The subsequent course after ART and bleomycin treatment was clinically marked by regression of skin lesions. Virologically, it was marked by a fall in the viral load. Immunologically there was a gradual recovery of CD4 levels which came back to normal. Our observation demonstrates that absence of effective antiretroviral therapy for HIV increases the risk to develop Kaposi’s sarcoma.
