Congenital Adrenal Hyperplasia: Diagnostic Features in a Limited Resource Country, Senegal

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.

From Surgery to Hematology: Fanconi Anemia about a Case of a Senegalese Child

Fanconi anaemia (FA) is a rare genetic abnormality. Most of FA reported from the sub-Saharan population came from southern Africa, with many patients linked to a mutation in the FANC G gene. Classic triads of this disorder are: a varied malformation, bone marrow failure, and short stature. This disorder is also associated with predisposition to malignancies. These multiple manifestations, sometimes not uniform, often cause diagnostic delay. We here report a 13-year-old Senegalese boy with FA. He was followed up for polydactyly-repair surgery. Importantly, pre-operative blood check-up revealed severe anaemia, which prompted us to perform bone marrow aspiration: examination revealed dysmyelopoiesis. Being triggered by this, systematic examinations were performed, which revealed other signs indicative of FA;i.e., radial spine abnormalities, triangular face, etc. The diagnosis of FA was strongly suggested, which prompted genetic examination. The chromosomal breakage test detected cellular hypersensitivity to DNA, which confirmed the diagnosis. He is receiving transfusion support, and androgens use is being considered. This case highlights the importance of preoperative examination. Physicians must be aware that FA, although its incidence is low, can be hidden behind infantile anaemia.

Neonatal Bilirubin Encephalopathy: Study of 30 Cases at Albert Royer National Children Hospital of Dakar

Introduction: Unconjugated bilirubin jaundice is a common symptom in neonatal period. In some babies, excessive serum bilirubin concentrations can place them at risk of acute bilirubin encephalopathy (BE) when the unconjugated pigment crosses the blood-brain barrier. Our study aimed to describe epidemiology, diagnosis and prognosis of BE at the Neonatology Department of Albert Royer Children’s Hospital of Dakar. Materials and Methods: It was a retrospective, descriptive study of cases of BE from January 1, 2015 to June 30, 2019. Obstetric and perinatal data as well as postnatal jaundice data (onset time, associated signs, signs of encephalopathy, treatment and evolution) were collected and analyzed by SPSS software version 2.0. Almost all newborns (27 cases;90%) were exclusively breastfed. At admission, all children exhibited blunt jaundice and signs of encephalopathy dominated by the abolition of archaic reflexes (76.7%), low suction (22 cases;73.3%), central apnea (12 cases, 40%). The mean serum bilirubinemia was 322 mg/litre. Neonatal infection (10 cases;33.3%) and fetal-maternal incompatibility (16 cases;53.3%) were the main causes. All children received intensive phototherapy and exsanguino transfusion was performed for 7 newborns (23.3%). Nine children died (30% mortality rate). Conclusion: Only better organisation of perinatal care with enhanced postnatal follow-up can reduce the incidence of EB.