Childhood Hearing Impairment in Senegal.

We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 15/44) of multiplex families in Senegal. The present study aimed to use community-based nationwide recruitment to determine the etiologies and the clinical profiles of childhood HI in Senegal. Participants with early onset HI were included after clinical examination, including audiological assessment by pure tone audiometry and/or auditory brainstem response. We investigated a total of 406 participants from 295 families, recruited from 13/14 administrative regions of Senegal. Male/female ratio was 1.33 (232/174). Prelingual HI was the most common type of HI and accounted for 80% (n = 325 individuals). The mean age at medical diagnosis for congenital HI was computed at 3.59 ± 2.27 years. Audiological evaluation showed sensorineural HI as the most frequently observed HI (89.16%; n = 362 individuals). Pedigree analysis suggested autosomal recessive inheritance in 61.2% (63/103) of multiplex families and sporadic cases in 27 families (26.2%; 27/103), with a consanguinity rate estimated at 93% (84/90 families). Genetic factors were likely involved in 52.7% (214/406) of the cases, followed by environmental causes (29.57%; 120/406). In 72 cases (17.73%), the etiology was unknown. Clinically, non-syndromic HI was the most common type of HI (90.6%; n = 194/214 individuals). Among families segregating syndromic cases, type 2 Waardenburg syndrome was the most common (36.3%; 4/11 families). This study revealed putative genetic factors, mostly associated with high consanguinity rate, as the leading causes of early-onset HI in Senegal. The high consanguinity could provide a good opportunity to identify variants in known and novel genes involved in childhood HI.

[Heart failure with normal heart revealing complex arteriovenous malformation of the lower limb in a child: case study and literature review]. / Insuffisance cardiaque sur cœur normal révélant une malformation artériole-veineuse complexe du membre inferieur chez un enfant: à propos d'une observation et revue de la littérature.

Arteriovenous malformations (AVM) are congenital high-flow vascular defects. They are very rare in children. Diagnosis and treatment are often delayed due to their atypical place of occurrence and to their variable clinical manifestations. We report the case of a child treated at the National Centre Hospitalier Albert Royer Children, Dakar. A boy aged 9 years was referred from a health facility in rural areas for the treatment of heart failure. Admission clinical examination showed impaired general condition, global heart failure syndrome and voluminous right warm inguinocrural mass extended to the right abdominal wall (iliac fossa and right flank), with poorly defined limits. Auscultation of this mass showed a thrill and diffuse murmur. Cardiac ultrasound showed severe pulmonary arterial hypertension (PAH) with extensive impairement of the heart cavities, without cardiac structural involvement. The diagnosis of AVM was confirmed by doppler ultrasound of the mass complemented by angiography scan. They showed multiple arteriovenous fistulas within the mass. The diagnosis of complex stage IV AVM (according to Schöbinger classification) of the root of the right thigh was retained. Clinical treatment of heart failure was based on furosemide, spironolactone and captopril to obtain hemodynamic stabilization before possible surgical procedure. Arteriovenous malformations of the limbs, in particular of the proximal end of the lower limb in children are still largely unknown, hence frequent diagnostic errors and delays. Their evolution is unpredictable requiring early diagnosis and careful monitoring involving multidisciplinary interaction between pediatrics, surgeons and radiologists.

[Hyperthyroidism in children at the University Hospital in Dakar (Senegal)]. / L'hyperthyroïdie de l'enfant au centre hospitalier universitaire de Dakar (Sénégal).

INTRODUCTION: Hyperthyroidism in children is rare and constitutes a problem because of its psychosomatic impact. This study aimed to present an overview of the state of knowledge on these aspects in children from Dakar. METHODS: We conducted a multicenter, descriptive study over a period of 15 years. We evaluated the epidemiological, clinical and etiologic aspects of hyperthyroidism in children. RESULTS: 239 patients were included in the study with a prevalence of 2.4%, a sex ratio (M/F) of 0.36 and an average age of 10.8 years. The inclusion criteria were being the eldest son in a family(26.3%), being advanced (36.9%) or delayed (12.5%) in maturation, having short stature (40.1%). It was caused by Graves' disease in 90.3% of cases with psychoaffective factor in 22.1%. On a clinical point of view tachycardia (92.4%), goiter (91.1%), exophthalmia (81.8%), weight loss (69.8%) prevailed but with bed-wetting (30.2%) and psychic manifestations (3.1%). Cardiovascular and cutaneous manifestations were positively associated with age (p < 0.05). Goiter was associated with female sex (p = 0.005), cardiovascular (p = 0.02), neuropsychic (p = 0.03), skin (p = 0.03) signs and diarrhea (p = 0.03). Free T4 was correlated with age (p = 0.007), diarrhea (p = 0.021), anxiety (p = 0.024), heart rate (p = 0.00) and Graves' disease (p = 0.04). More voluminous the goiter, higher the free T4 (p = 0.007). CONCLUSION: Hyperthyroidism in children differs from that in adults because of induction factors, growth disturbances and enuresis. Age and sex seem to favor the clinical picture of thyrotoxicosis and its associated signs.