[Pseudohypoaldosteronism type I: systemic form]

Pseudohypoaldosteronism type 1 [PHA1] is a rare condition characterized by renal insensitivity to the action of mineralocorticoids. Patients manifest neonatal salt wasting, hyperkalemia, and metabolic acidosis despite elevated aldosterone levels. Autosomal recessive and dominant or renal forms of the disease have been described. In the recessive form, patients have salt wasting from the kidney, colon, sweat, and salivary glands; because of dramatic volume depletion, patients require massive sodium supplementation throughout life. We report a case of a one month and three weeks old who presented a systemic type 1 pseudohypoaldosteronism

[Cleido-cranial dysplasia: a family observation]

Cleido-cranial dysplasia is a rare autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, macrocephaly with patent fontanelles, persistant open sutures, short stature and tooth anomalies.We report a family observation of two children, brother and sister respectively aged of 6 and 8 years. The wide coronal and lambdatic sutures, still open anterior fontanelle and the absence of right clavicle confirm the diagnosis of cleido-cranial dysplasia

[Acute poisoning in the pediatric service at the infant hospital of Tunis. report of 325 cases]

We reported a retrospective study concerning 325 cases of acute poisoning in the pediatric service at the infant hospital of Tunis during a period of one year from 1 January to 31 December. The aim of this report is to evaluated the epidemiologic, clinical and evolutive aspects. They were 194 boys and 131 girls. 60 per cent of the infants are aged under 3 years. The chemical products occupied the first place with 153 infants [49.7 per cent], the inhalation of petroleum represented 62 cases, the water of javel 58 cases. The medicines occupied the second place with 128 infants [39 per cent]. The evolution was favourable in 277 infants [85 per cent]. 12 patients [3.6 per cent] are presented a pneumonia after inhalation of petroleum. In 4 patients [1.2 per cent], we constated a caustic oesophagitis. One case of death was occurred in a patient with medicinal polypoisoning.The prevention stays the better way to fight this phenomenon

[ 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

Aspects cliniques du syndrome de schwartz jampel: a propos de quatre nouvelles observations familiales et d'une revue la litterature

The schwartz- jampel syndrom or the osteo chondromuscular dystrophy is a rare affection. We had reviewed 50 cases in the literature, we present in this study four new familial cases. The diagnosis is always clinical before a dysmorphic nanism with anomalies of skeleton. The electromyography confirmes the diagnosis by objectiving the myotony the syndrome expressivity is variable. The transmission of this disease is discussed. The pathogenesis is always not clear, a sarcolemnic desorder may be responsable of the myotony