[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

[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

[Constitutional deficiency in factor vii: study of two observations with review of the litterature]

Introduction: constitutional deficit in factor VII is an hereditary haemorrhagic autosomal recessive disease due to the decrease or the absence of factor VII in coagulation. It is a rare pathology with a frequency estimated at 1/500.000. Clinical expression is very variable and the severity of the haemorrhagic syndrome does not correlate with the residual rates in factor VII

Observation number 1: Kamel, a 9 year-old boy, descending from cousin-german parents is hospitalized for an average abundance recurrent epistaxis since the age of 2 years. Medical exam in the admittance found only a cutaneous and mucous paleness. On the biologic level, we noted set apart, a microcytic hypochrome-plate anaemia at 8 g / dl, a low TP at 35 per cent while TCA was normal [24/30]. The dosage of factors of coagulation showed a low rate in factor VII, of 24 per cent thus confirming the diagnosis of a congenital innate deficit in factor VII. This child was put taking out under martial supplementation after spontaneous drying up of the bleeding

Observation number 2: Wassim who is a newborn male, 3-rd child of cousin-german parents, is admitted at the age of 2 days for an average abundance of hematemesis. He is born from a well followed pregnancy and a caesarean delivery. Vitamin K was received at birth. At the age of 2 days, he presented an average abundance hematemesis whence the admittance in our service. Exam at the admittance was normal and he did not present exteriorized bleeding. A biologic balance showed a low TP twice at 17 and 15 per cent with a normal TCA at 32/30. The dosage of factors of coagulation in particular the factor VII practised with the baby showed a low rate of 1,5 per cent thus confirming the diagnosis of a congenital deficit in factor VII

Conclusion: At its worst, deficit in factor VIlcan put at stake the vital functional prognostic or even the vital one. The prognostic of the disease remains bound to the risk of notably serious cerebral bleedings arising in neonatal period. It is necessary to make a genetic council for the consanguineous parents of a patient affected with this disease

[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

[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]