RESUMO
Hereditary spherocytosis [HS] is a constitutional disease of red corpuscles. Hereditary pattern is autosomic dominant in 80 percent of the cases. It is usually appeared in childhood by regenerative anaemia of variable gravity. It can be symptomatic in the neonatal period. Jaundice is the first and more frequent symptom. Through two observations of HS with neonatal revelation, we carry clinical, biological and therapeutic particularities of this affection in neonatal period
RESUMO
Sirenomelia is a serious congenital deformity in which the legs are fused together, giving the appearance of a mermaid [of the Greek Mythology], Its prevalence has been estimated at about 1, 5 to 2 in 100 000 births. We report two cases of foetuses with Sirenomelia. The first case is that of a premature baby weighing 1050g. The second case is a premature baby resulting from a triple pregnancy and weighing 1450g. They presented a fused lower limb and absent kidneys, anus and external genitalia. They died rapidly. These two cases will allow us to debate the clinical signs, the aetiology and the prognosis of such congenital malformation as well as the difficulties of prenatal diagnosis
Assuntos
Humanos , Perna (Membro)/anormalidades , Recém-Nascido PrematuroRESUMO
The authors report two cases of isolated tracheoesophageal fistula revealed in neonate. It is a rare malformation that presents with a characteristic triad of symptoms: choking and cyanosis on feeding, abdominaldistension and recurrent respiratory tract infection. Children are invariably symptomatic from birth. These symptoms may be intermittent and may vary in severity. The barium swallow confirms the diagnosis and determins its location in two cases. The treatment is surgical
Assuntos
Humanos , Masculino , Fístula Traqueoesofágica/diagnóstico , Fístula Traqueoesofágica/cirurgia , Síndrome do Desconforto Respiratório do Recém-Nascido , Recém-NascidoRESUMO
Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seen almost exclusively in female and is often sporadic. However, some familial cases were reported in the literature. The prognosis is unpredictable. It is grave in most of cases with severe psychomotor retardation. The authors report two sisters not twins, from a consanguineous familily with atypical Aicardi syndrome diagnosed at 2 months of age. Clinical feautures were infantile spasms, partial agenesis of the corpus callosum and atypical ophthalmologic abnormalities. Evolution was marked by severe psychomotor retardation, scoliosis and severe recurrent pneumonia entailing the death of one of the patients at 3 years of age