[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

[Delayed congenital diaphragmatic hernia in children. [study of 8 cases]]

Congenital diaphragmatic hernia [CHD] is the result of a defect of the musculo-aponevrotic septui which separate the thoracic cavity from the abdominal cavity allowing migration of the abdominal viscera in thorE, Its global frequency is estimated at 1/300010 1/5000 living births. In the majority of cases, it appears in the fir 24 hours of life revealed by an acute respiratory distress. In 5 to 25% of cases, the CHD was lately reveale beyond 4 weeks of life to several months or sometimes several years

Patients and methods: We report retrospective study of 8 cases of CHD with delayed revelation enrolled in the department of pediatrics on a peric of 22 years between 1984 and 2005

Results: Six patients of our cases had postero lateral hernia by th Bochdalek foramen of divided on 5 in the left side and one case on the right side. Only 2 patients had retro-cost[xyphoidien hernia of Larrey. Epidemiologic data reported 3 girls and 5 boys with the mean age of one year an half [range from 47 days to 3 years and half]. On the clinical plan the mode of beginning was acute on 6 case or chronic on' one case. CHD was fortuity discovered in one case during exploration of axillary lymph node! Respiratory symptoms were predominant in 7 cases associated to gastrointestinal symptoms in 4 cases. patients benefited from chest radiography that revealed digestive clarities on the lung bases. TOGD has bee also achieved in all cases and permitted to confirm the diagnosis and to specify the herniated organs. Thorac[abdominal scan in 2 cases and IRM in only one case revealed a right HDC with ascension of the liver. Seve patients have been operated. One child died quickly some hours after his admission by refractory hypoxernii Post operative outcome are favourable in six cases. One child dead one day after surgery by refractor respiratory distress

Conclusion: The diagnosis of the delayed CHD must be evoked in presence of respirator or digestive symptoms associated to unusual radiological abnormalities of the lung bases. Early surgic; treatment is efficient in the majority of the cases

[Auto-immune hepatitis of type 2 of the child. evolution quickly favorable of un usually serious affection]

Introduction: Auto-immune hepatitis of type 2 of the child associated with the presence with endoplasmic Antibody anti-reticulum were recognized there is more than 15 years. It is characterized by the presence of antibodies anti LKM1 associated in 30 per cent of the cases with antibodies anti LC1 with on the clinical level by an early beginning, according to an acute mode with an intense inflammatory activity with a high frequency of fulminant hepatitises and a fast evolution towards the cirrhosis

Observation: Malek aged of 8 years old was hospitalized for icteris with deterioration of the general state evolving 07 months before its admission. The examination found a patient eutrophic with cutaneo-mucus icteris moderate and a hepatic arrow to 13 cm; the examination in addition is normal. The biological assessment showed a hepatic cytolysis with ASAT/ALAT = 265/335; a marked cholestase [PAL = 3200 UI/I, sigma GT to 980 Ul/land a hyperbilirubinemy with 64,6 pmo1/1], an inflammatory syndrome and a hypergammaglobulinemy with 33,3 g/I. The TP was to 50 per cent, serologies of hepatitises A, B and C were negative, the cupremy = 15 mmol/I and the ceruloplasmine with 0,18 ng/mmol. The immunological assessment showed the presence of antibodies anti LKM1 and the antibodies anti LC1 which were positive to 1/640. Abdominal echography showed a liver of cirrhosis without signs of portal hypertension. The treatment rested on the association of prednisolone 40 mg/day and azathioprine 1,5 mg/kg/ day. The evolution was favorable with a clinical and biological remission with a 3 years passing

Conclusion: The Auto-immune hepatitis of type 2 is a severe affection which occurs readily in the child of more than 8 years. The intense inflammatory activity and the fast evolution towards the cirrhosis characterize this disease Our observation which corresponds to the first Tunisian pediatric case had the characteristic of a very insidious installation of the disease and of an evolution quickly favorable under treatment

[West syndrome study of 25 cases]

The West syndrome is a scarce epileptic syndrome in infant characterized by a symptomatic triad associating epileptic spasms, psychomotor regression and hypsarythmy. The goal of this work is to analyze the electroclinic and etiologic aspects of the West syndrome and to propose a therapeutic control

Patients and methods: We report a retrospective study of 25 cases of West syndrome collected in the department of pediatric between 1991 and 2005. Several epidemiologic and evolutionary parameters were studied

Results: The middle age of our patients is 5 months and half with the extreme going from 45 days to 12 months. The spasms are in bending in 96% of cases; only one child had spasms in extension. A delay of psychomotor development was noted in all cases, it was previous to spasms in 48% of cases. The initial electroencephalogram objectified a typical hypsarythmy in 20 patients [80 %] and an atypical hypsarythmy in 5 cases [20%]. On the etiologic plan, it acts of 24 symptomatic forms. The cryptogenic form was noted in only one case. The treatment of first intension was variable and the evolution under treatment was marked by a disappearance of spasms in 22 cases with persistence of a significant psychomotor delay in 9 cases, 3 cases evolved toward a syndrome of Lennox Gastaut

Conclusion: The gravity of this pathology incited us to know better its different electroclinic and therapeutic aspects in order to improve the forecast in these children

[Sweet's syndrome in an infant. a new pediatric observation]

Introduction: Sweet's syndrome was described for the first time in 1964. It is usually described in adults and remains rare in children. We report a case in a 18 month-old infant

Observation: A 18 month-old boy presented with multiple round erythematous papules and plaques involving the extremities, face and ears. Laboratory examinations revealed neutrophilic polynuclear hyperleukocytosis, anemia and inflammatory syndrome. Physical examination and skin biopsy led to diagnosis of Sweet's syndrome. The boy was treated by oral corticosteroids. Because he developed rectorragia and hematemesis we change to dermocorticoides class II and colchicine that led to spectacular improvement

Conclusion: Sweet's syndrome is exceptional in infants. The frequent association with a malignant blood disease should prompt appropriate investigations and prolonged survey. Systemic corticosteroids therapy is the reference