Objective Evaluate the performance of QuantiFERON ® -TB Gold In-Tube test (QFT-GIT), to improve the diagnosis of active tuberculosis (TB) in Human Immuno-Deficiency Virus (HIV)-infected children. Method Sensitivity, specificity, Positive Predictive Value (PPV), Negative Predictive Value (NPV) of QFT-GIT were assessed in 58/63 HIV-infected children who were suspected of having TB. Results Sensitivity of QFT-GIT was 20.69%, specificity 96.55%, PPV/NPV respectively 85.71% and 54.90%. Conclusion QFT-GIT appears to be of little contribution to the diagnosis of active TB in children living with HIV in a TB-endemic country.

No abstract

Seckel syndrome-1 or “bird-headed dwarfism”, Online Mendelian Inheritance in Man number 210600, is a rare genetic disease with an autosomal recessive transmission. We report a female child of 56 months diagnosed with SCKL1 at the Pediatric department of the University Hospital Center Sourou Sanou, Burkina Faso. She showed the typical features including facial dysmorphism, dwarfism, microcephalus and mental retardation. Ophthalmic and dental anomaly and extremities were associated. Without a codified etiological treatment, a psychotherapist support, a genetic counseling, a regular pediatric follow-up, a quarterly odontostomatological and ophthalmological follow- up have been recommended.

Vitiligo is a dermatological disease; its exact prevalence is unknown among the paediatric population. We are reporting a case of vitiligo at birth for the first time in Burkina Faso, in the Teaching Hospital Souro Sanou of Bobo-Dioulasso, Paediatric Department. He is a male child, born from HIV-1 positive parents; we received him when he was 2 months to be followed in connection with the prevention of motherto-child transmission. He showed achromic lesions on the skin and on skin appendages at birth. In addition to congenital vitiligo we mentioned, several diagnostic hypotheses were discussed. No treatment was decided to face these skin lesions given the very young age of the patient. Psychological support is planned in the long run.

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals.