[Pfeiffer syndrome a study about a new case]

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes and partial syndactyly on hands and feet. Pfeiffer syndrome affects about 1 in 100000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes: FGFR-1 of FGFR-2. We report the first case in our region. Douaa, had been admitted on the 8 hours of life for dyspnea and plymalformatif syndrome. She was born from a third pregnancy. The weight at birth was 3000 gr. She had a brachycephaly, flat occiput, full high forehead, under developed midface with receded cheekbones, a small nose with low nasal bridge. She shows an important ocular proptosis. The thumbs and big toes are short and broad; there is a deviation of thumbs and great toes away from the other digits and syndatyly of the 2-3 fingers and toes. The radiography of feet sowed a trapezoidal aspect of the first fingers of toes. The brain tomodensitometry showed a cranniosynostosis of the coronal suture, the sagittal suture was respected, the brain parenchyma was normal. On the therapeutic level the patient received artificial tears during the day and a lubricating ointment at night. A surgical management is previous at 3 months of age. Although rare, Pfeiffer syndrome Pfeiffer syndrome presents several systemic and ocular implications. A multidisciplinary approaches of care, including pediatrics, orthopedics, plastics, optometry, ophthalmology and neurosurgery, yields the most success

[Myelodysplasia with monosomia 7 in child. study about 2 observations treated by backbone transplant]

The myelodysplasia with monosomia 7 is a rare clonal haemopathy in child. Its characterized by defect of haematopofetic souche cell maturation explaining the board of the rich backbone cytopenia. The severe prognosis of this affectiOn [death linked to the medullar deficiency or to the refractory myeloblastic acute leukaemia] justify the backbone transplant if there is an intra-familial blood donor. The other therapeutical approaches remain experimental. We report two observations of myelodysplasia with monosomia 7 in two girls aged of 8 years old and a half and 10 years revealed by cutaneous palor without tumoral syndrome. The biological balance revealed a pancytopenia in one case and an isolated macrocytary anaemia in the other case. The myelogram confirmed the myelodysplasia diagnosis providing a riche marrow with presence of dyserythropofesis signs. The medular caryotype confirmed the monosomia 7 by revealing a chromosomic cellular clone 45 XX-7. The backbone transplant practized in these two girls permetted to normalize the haemogram and to disappear the chromosomic anomalies in the one from them. The second is dead in the 73rd day following the graft reaction against the host and a cytomegalovirus digestive infection

[Primitive lymphedema of children. About 4 observations]

In children, the lymphedema often results from a primitive abnormality of lymphatic vessels. Through four observations depicted in the pediatric department of Sfax, we try to show the clinical and etiological polymorphism of this disease and to underline the difficulties of the coverage especially at the child. 1: a girl hospitalized at birth for Bonnevie-Ullrich's syndrome associating an innate lymphedema and Turner's syndrome. A boy hospitalized at the age of 13 months for congenital unilateral lymphedema with penio-scrotal atteinte, associated to urinary malformation [not obstructive pyelo-ureteral connective syndrome]. A 7 years old boy hospitalized for familial primitive premature bilateral lymphedema type Meige. A 13 years old boy, hospitalized for recidivated erysipele. The diagnosis of sporadic primitive premature unilateral lymphedema associated to venous malformation was retained

[ purulent meningitis of child aged over two years old. Study about 33 observations]

The bacterian meningitis is an affection which is more frequent and grave in our country. We reported a retrospective study of 33 cases of purulent meningitis in infants aged between 2 and 14 years. This study had been collected in pediatric department of UHC Hedi Chaker of Sfax during a period of 9 years [1996-2004]. The average age was 6 years with a sex ratio of 1,35. The clinical syndrome was dominated by fever and neurologic signs. The neck stiffness and the Brudzinski sign had been respectively noted in84,8 and 60,6% of cases. The lumbar puncture realized in all infants took of suspicious liquid in 28 cases, clearly in 2 cases and haemorrhagic in 3 cases. The pleiocytosis had been higher in the all cases, il was of neutrophile polynuclear predominance in 84% of cases. A germ had been identified in 14 cases [pneumocoque: 6 cases, haemophilus: predominance in 84% of cases. A germ had been identified in 14 cases [penumocoque: 6 cases, haemophilus: 5 cases, meningocoque: 2 cases and Klebsiella pneumoniae: 1 case. The first intention antibiotherapy was mainly cefotaxim [19 cases], ampicillin [9 cases] or cefotaxim and vancomycin [3 cases]. The initial evolution was favourable in 60% of cases. The neurological and extra neurological complications had been noted in 39% of cases. An infant is dead in a grave septicaemia. The later evolution was favourable in 81,8% of cases definitive after effects had noted in 5 infants [deafness = 4 cases and ataxia = 1 cas]