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Médecine et Maladies Infectieuses 02/2012; 42(2):83-4. · 0.72 Impact Factor
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ABSTRACT: The association of hemophagocytic syndrome (HS) and visceral leishmaniasis is a frequent disorder during infancy in endemic areas such as Tunisia. The range of severity of HS secondary to visceral leishmaniasis includes both pure biological forms that resolve with antimicrobial therapy and life-threatening emergencies that require specific treatment. We describe 2 cases of severe HS secondary to visceral leishmaniasis. The diagnosis of HS was based on the HLH-2004 diagnostic criteria. Therapy involved pentavalent antimonial (Glucantime) in both cases. The combination of corticosteroids with immunoglobulins, used in the 1st case, but introduced late, led to an unfavorable course and death. In the 2nd case, the specific treatment of HS was based on immunochemotherapy including etoposide and corticosteroids. Progression was favorable with a follow-up of 24 months. Etoposide containing therapeutic regimens can be proposed in severe forms of HS associated with visceral leishmaniasis.
Archives de Pédiatrie 09/2010; 17(11):1566-70. · 0.30 Impact Factor
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ABSTRACT: Esophageal duplications are rare malformations. They account for 15 to 20% of esophageal malformations. Duplications are cystic or, rarely, tubular. The location is thoracic in 95% of the cases. The clinical manifestations are mostly related to compression of the neighboring organs. Treatment is surgical. We report a case of esophageal duplication in a 22-month-old child; the major symptom was congenital stridor. The diagnosis of esophageal duplication was suspected at the chest computed tomography imaging study and confirmed after excision and pathologic examination.
Archives de Pédiatrie 06/2009; 16(8):1129-32. · 0.30 Impact Factor
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ABSTRACT: Fahr syndrome is defined by the presence of striopallidal notched bilateral and symmetric calcifications at the base of the skull. We report an observation of a 12-year-old girl who presented gait impairment, seizures, somnolence and aphasia. Brain computed tomodensitometry identified intracranial calcifications. The tests demonstrated pseudohypoparathyroidism.
Archives de Pédiatrie 04/2009; 16(5):444-8. · 0.30 Impact Factor
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ABSTRACT: Nasofrontal fistulas, also called nasofrontal dermal sinuses, are very rare and found for the most part in children. This congenital malformation may be revealed by local infection or neuromeningitis, making this a serious disorder. We report one case of nasofrontal dermal sinus diagnosed in an 11-month-old girl, which was complicated by left fronto-orbital infection. Through this case, the authors stress the role of imaging methods in confirming the diagnosis and looking for associated cysts (dermoid and epidermoid).
Journal francais d'ophtalmologie 05/2008; 31(4):e8. · 0.51 Impact Factor
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ABSTRACT: Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N-acetyl aspartic acid in the brain. The authors report a case in a 10-month-old boy who presented with developmental delay and megalencephaly noticeable after 4 months of age. Magnetic resonance imaging of the brain showed diffuse white matter degeneration. The diagnosis of Canavan disease was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry.
Archives de Pédiatrie 03/2007; 14(2):173-6. · 0.30 Impact Factor
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ABSTRACT: We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome.
Archives de Pédiatrie 11/2006; 13(10):1323-5. · 0.30 Impact Factor
