A severe illness of a congenital cytomegalovirus infection

Congenital cytomegalovirus [CMV] infection occurs in about 1 per cent of newborns and 10 per cent of them exhibit symptomatic infection. Nervous system damage influences prognosis and newborns management. We report the case of a newborn with a s6vere and progressive congenital CMV infection. He was admitted because of petechiae and thrombocytopenia. Investigations of the newborn showed a bilateral optic atrophy, severe nervous system damage with hydrocephalus, enormous periventricular pseudocysts and cerebellum hypoplasia. No brain calcifications were found. Diagnosis relied on blood CMV viral load measurement in both the newborn and his mother. The newborn received Ganciclovir. Hydrocephalus progressed and required ventriculoperitoneal shunt placement. This case illustrates that pseudocysts and progressive hydrocephalus must suggest CMV congenital infection even not associated to brain calcifications. Nervous system damage is serious in congenital CMV infection and requires a systematic screening during pregnancy

[ dyschondrosteosis case]

Dyschondrosteosis is a general disease with a dominant transmission. It is of late discovery ever in the birth. Most frequent at the girl. Clinically it associate an incapacity staturale moderate and deformation of members with the infringement elective of the average segment of the front arm and leg. The gene incriminate in the genese of the disease is the SHOX gene. Its exist in the pseudo-autosomic commun region of chromosom X and Y in X pter-p. 22-3 and Y pter-p. 11-2.. The nature of the disorder is a mutation or a deletion infringement. Prognosis is favorable not justifying mostly any treatment. The radial osteotomy is indicate in case of confusion functional. We bring back an observation of a dyschondrosteosis case

[Triplo X: about an observation]

Triplo X is a gonosomal disorder. The incidence in the new-born population is approximately 1 per 1000 female infants. The origin of the extra X are scanty although it seems to be mostly maternal. It result from a non disjunction at meiotic division. There is not a special dysmorphie face; we found a large size, mental retardation with difficulty of training of the language. Fertility present in many cases. The diagnostic is carried by the survey of the caryotype. We bring back an observation of triplo X case

[Kawasaki disease. About 9 cases]

To analyze epidemiologic, clinical and evolutive profile of Kawasaki disease, we studied retrospectively 9 cases of children with Kawasaki disease fulfilled during ten years [1994 - 2003]. It is about 8 boys and 1 girl, aged from 4 months to 9 years [mean age at 3 years].5 patients fulfilled at least 5 major criterias of The illness and the four others presented an incomplete form We noted cardiac manifestations in 3 patients, neuromeningeal, renal and digestive symptoms in 5 cases for each one, articular in 2 cases and pulmonary in 1 case. Biologic inflammatory syndrome is present in all cases and high rate of platelets has been found in 6 cases/9. Aspirin with anti inflammatory dose has been instituted in 8 cases / 9. Intravenous immunoglobulin has been administrated in 6 cases /9. Cardiac manifestations have disappeared completely in the 3 cases. The outcome has been favorable for all cases. In conclusion, Kawasaki disease is unknown rather rare, incomplete or atypic forms are frequents and source of diagnostic delay. Early treatment permit to improve the prognosis of this disease