Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn’t reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects

Pharmacology and immuno-virologic efficacy of once-a-day HAART in African HIV-infected children: ANRS 12103 phase II trial

Objective To assess 12-month survival, pharmacokinetics, immunologic and virologic efficacy, tolerance, compliance and drug resistance in HIV-infected children in Bobo-Dioulasso, Burkina Faso, receiving once-daily highly-active antiretroviral therapy as a combination of didanosine (DDI), lamivudine (3TC) and efavirenz (EFV). Methods In the ANRS 12103 open phase II trial, HIV-infected children were examined at inclusion and monthly thereafter. CD4+ T-lymphocyte (CD4) count, plasma concentration of ribonucleic acid (RNA) of human immunodeficiency virus type 1 (HIV-1) and haematologic and biochemical parameters were measured at baseline and every trimester. HIV-1 resistance testing was performed in case of viral escape. Drug plasma concentrations were determined with high-performance liquid chromatography. Findings From February 2006 to November 2007, 51 children (39% girls) with a mean age of 6.8 years were enrolled and treated for 12 months. At baseline, Z scores for mean weight-for-age and mean height-for-age were -2.01 and -2.12, respectively. Mean CD4% was 9.0. Median plasma HIV-1 RNA viral load was 5.51 log(10) copies per millilitre (cp/ml). Two children (3.9%) died and another 11 (22%) suffered 13 severe clinical events. At month 12, mean WAZ had improved by 0.63 (P<0.001) and mean HAZ by 0.57 (P<0.001). Mean CD4% had risen to 24 (P<0.001). Viral load was below 300 RNA cp/ml in 81% of the children; HIV resistance notations were detected in 11 (21.6%). Conclusion The once-a-day combination of DDI + 3TC + EFV is an alternative first-line treatment for HIV-1-infected children. Dose adjustment should further improve efficacy