[Community acquired pneumonia in children]. / Pneumopathies communautaires chez l'enfant.

BACKGROUND: Community acquired pneumonia is responsible for a high morbidity in children. The etiological diagnosis is not always easy and treatment remains probabilistic. AIM: To analysis clinical patterns and the outcome of community acquired pneumonia and to find arguments in favour of its origin. METHODS: A prospective analysis of the files of 39 children (20 boys, 19 girls) hospitalized between (1 december 2004 - 30 june 2005) for community acquired pneumonia was performed. Included dchildren whad between 6 months and 15 years-old. RESULTS: The mean age was of 3 years and three months. Germ was identified in 41% of cases: Mycoplasma pneumoniae was the most important germ found in 9 cases, pneumococcus was found in 4 cases and hemophilus in four cases. Coinfection pneumococcus and mycoplasma were found in two cases. None virus was identified. We have separated two groups: bacterial pneumonia and pneumoniae without definite etiology. Fat cough was associated to bacterial pneumonia. mycoplama pneumoniae was significantly associated with high fever and dry cough. We haven't found any others associations between clinical, biological or radiological patterns and the two groups of pneumonia. C-reactive protein more than 66 mg/l has sensitivity of 77%, specificity of 73.3%, positive predictive value of 46.7% of and negative predictive value of 91.7%. The outcome was favourable in all cases. CONCLUSION: Theses results showed the necessity to improve our microbiological methods to identify infectious agents of pneumonia. Mycoplasma pneumonia seems to be a frequent germ in preschool children.

Infantile onset of Cockayne syndrome without photosensitivity in a Tunisian girl.

BACKGROUND: Cockayne syndrome is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. Classically, the onset of Cockayne syndrome starts in the second year of life. The failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful diagnostic test and the clinical feature that correlates most strongly with defective RNA synthesis is photosensitivity. AIM: To report an unusual case of Cockayne Syndrome. CASE REPORT: A case of a five-year-old girl with Cockayne with an onset in early infancy the girl and without photosensitivity is presented. The diagnosis was confirmed by the failure of RNA synthesis to recover to normal rate after UV-C irradiation. The patient died at the age of 6 of pneumonia. CONCLUSION: Although rare, Cockayne syndrome may be presented without photosensitivity and had an early onset.

An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.

Metachromatic leukodystrophy is an autosomal recessive neurodegenerative lysosomal disease characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neuronal and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity but may be complicated in cases of arylsulfatase A pseudodeficiency and sphingolipid activators protein deficiency. We report the case of a 3-year-old boy who presented a severe form of late infantile metachromatic leukodystrophy. This patient was found to be homozygous for the arylsulfatase A pseudodeficiency. This condition is rare and can lead to a severe disease. Prenatal diagnosis was performed in this family, and the fetus was healthy.

Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?

We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set posteriorly rotated ears with overfolded thick helices. He had also ureterocele, hypospadias, and others anomalies. The magnetic resonance imaging of the brain showed hypoplastic vermis, hypoplastic corpus callosum, and dilatation of ventricles. Chromosomal analysis revealed a normal male karyotype with 46,XY. Skin biopsy was normal. To the best of our knowledge, this combination of anomalies has not been reported and this case may be a unique syndrome.