RESUMO
The aim of this article is to describe the first case of Hutchinson-Gilford Progeria Syndrome (HGPS) in Togo and review all Africans cases. Our patient was a 12.8-year-old Togolese boy followed in our unit till he was 15-year-old for HGPS. He was the only child of non-consanguineous parents. The phenotypic findings were craniofacial dysmorphy, dwarfism, lipodystrophy, diffusely scattered hyperpigmented foci, pyriform thorax, nail dystrophy, decreased joint mobility, and camptodactyly. He had characteristic facies with prominent forehead, prominent eyes, absent ear lobule, thin nasal skin, convex nasal profile, micrognathia, and crowded teeth. Radiologicals findings were bilateral coxa valga, pyriform thorax, and acro-osteolysis. We sequenced the entire coding region of LMNA gene, and mutation analysis revealed a heterozygous mutation c.1824C>T (p.Gly608Gly). Our patient is therefore the fifth African and the fourth with classical mutation, first of Western Africa, and second of (sub-Saharan) African black race. The recurrence of HGPS is low like the cause is neomutation or germinal mosaicism.
Assuntos
Anormalidades Craniofaciais/genética , Predisposição Genética para Doença , Lamina Tipo A/genética , Progéria/genética , Adolescente , Criança , Anormalidades Craniofaciais/patologia , Nanismo/genética , Nanismo/patologia , Humanos , Lipodistrofia/genética , Lipodistrofia/patologia , Masculino , Progéria/patologiaRESUMO
BACKGROUND: Malaria is a common and frequently fatal disease in sub-Saharan Africa and children suffer the consequences of their family's erroneous therapeutic decisions. OBJECTIVE: To assess knowledge, attitudes and practices related to malaria treatment and prevention among mothers of children younger than 5 years old. METHODS: Cross-sectional survey conducted from July to September 2000, in Notsé (Togo) among a sample of 385 mothers of children aged younger than 5 years. Investigators completed environmental evaluation cards and used a questionnaire to interview mothers. RESULTS: Mothers' level of knowledge was qualified as high among 53% of the subjects, intermediate among 30%, and poor among 17%. It was associated with the mothers' level of education. All mothers considered malaria to be a serious disease; 79% said that they were favourable to drug use for malaria prevention in children; 81% preferred mosquito nets as the means of prevention; 94% of them preferred that their child receive modern medical treatment for malaria. Mothers' global practices for malaria prevention and treatment were qualified as good among 5%, intermediate among 23%, and poor among 73%. Practices were associated with educational and level of knowledge and inversely associated with the number of children she had. CONCLUSION: These results suggest that improved communication with the population and promotion of intra- and inter-sector collaborations and literacy in mothers, together with active participation by the population, might be useful measures for reaching the objectives of antimalaria program in Togo.