[Focal dermal hypoplasia (Goltz syndrome) in the neonate: report of a case presenting with cleft lip and palate]. / Syndrome de Goltz chez un nouveau-né avec fente labiopalatine.

Focal dermal hypoplasia (Goltz syndrome) is a rare congenital dysplasia of the mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCNgene mapped on Xp11.23. The condition is characterized by cutaneous lesions distributed in linear areas associated with diverse congenital deformities. Given the rarely described neonatal features, we report a case of Goltz syndrome in a black female newborn. This is the first case known in Burkina Faso. The cutaneous, hair, and nail lesions usually observed were present, characterized by their preponderance on the left side of the body with exclusive ipsilateral skeletal abnormalities (cleft lip and palate, agenesis of the metatarsals and toes of the foot, syndactyly, lobster claw, and absence of a rib). The limits in the management and the negative social and cultural perception of the deformities in the context of a developing country did not favor the child's survival.

Aplasia cutis congenita associated with Goltz syndrome in a male neonate.

Here we report the association of giant aplasia cutis congenita in a newborn black male with Goltz syndrome. The cutis aplasia defect is extensive and circonscript at the vertex. The cerebral structures are visible through the lesions. In addition, the patient has a low birth weight, syndactyly, adactyly, cutaneous atrophy, and areas of hyperpigmentation on the legs and hypoplastic maxillary. We think that these signs are probably due to mosaic mutations in PORCN. We reviewed 18 cases of Goltz syndrome in 18 male neonates but none has aplasia cutis congenita. Such a combination of severe aplasia cutis congenita was not reported previously in Goltz syndrome.

[Neonatal pertussis in Africa: a case report]. / La coqueluche du nouveau-né en Afrique.

Whooping cough (pertussis) is a contagious disease caused by Bordetella pertussis that can be prevented by vaccination. The disease is particularly severe in infants who are less than 3 months old, who are not protected against the disease and are often contaminated by their parents. Atypical presentations are frequent and neonatal pertussis is rare. We report a case of malignant whooping cough in a newborn infant probably contaminated by her mother. Diagnosis was suspected clinically because of persistent coughing fits and was confirmed by serology. Treatment was successful. We discuss the diagnostic, therapeutic, and preventive issues of whooping cough in developing countries. In Africa, where complementary investigations such as PCR are seldom accessible, a careful clinical study and the analysis of the absolute rate of lymphocytes could be an alternative for the diagnosis of whooping cough. Vaccination of teenagers and adults is also problematic in poor countries. High-performance new vaccine candidates may contribute to a better control of whooping cough.

[Clinical profile of cryptosporidiosis in a pediatric hospital environment in Burkina Faso]. / Profil clinique de la cryptosporidiose en milieu hospitalier pédiatrique au Burkina Faso.

Data concerning Cryptosporidium parvum infection in Black Africa are highly fragmentary. A 12-month study was carried out on 1392 stool specimens from children under 36 months of age with (n = 756) or without diarrhea (n = 629) in the Pediatric Department of Bobo Dioulasso Hospital in Burkina Faso. In 558 children HIV blood tests were also performed. The phenicated fuchsin technique was used to identify Cryptosporidia oocysts. Results were positive in 72 of the 1392 stool specimens tested (5.2%) and in 59 of the 756 stool samples from children with diarrhea (7.8%). Oocysts were not detected in any child under the age of 6 months and the highest incidence of infection was between 6 and 23 months. Detection of oocysts during this year long study was significantly higher from April to June, which corresponds to the beginning of the rainy season in Burkina Faso. Occurrence of diarrhea was not significantly correlated with parasite density. Presence of oocysts was correlated with malnutrition (p < 0.01) and rotavirus infection (p < 0.05). Of the 558 children who underwent HIV testing, only one was positive. In contrast the incidence of HIV infections in the overall population tested was 7%. This study indicates that cryptosporidiasis is a major factor in development of diarrhea and dehydration in the pediatric hospital setting of Burkina Faso. Two other notable findings are that occurrence of cryptosporidiosis is closely linked to hygiene in the population but is not significantly correlated with HIV infection in the pediatric setting in Africa.