[Sjögren-Larsson syndrome: 2 case reports]. / Le syndrôme de Sjögren-Larsson: à propos de 2 cas.

UNLABELLED: Sjögren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes. The main features of the disease are its association with congenital ichthyosis, mental retardation, and spastic tetraplegia. METHODS: We report on the diagnostic and therapeutic management of 2 cases of SLS. RESULTS: The diagnosis of SLS was suspected in the first patient at 2 years of age before the clinical triad appeared and confirmed at 4 years of age by the culture of fibroblasts and the peak of lipids on 1.3 ppm spectroscopy. After 3 months of treatment with zileuton, an inhibitor of leukotriene synthesis, moderate clinical efficacy for pruritus and ichthyosis was observed. The second patient was diagnosed at 1 year of age with the association of psychomotor retardation and congenital ichthyosis, in accordance with acute Guillain-Barré syndrome. Diagnosis was confirmed with enzymology, and cerebral spectro-MRI featured an abnormal lipidic peak. Zileuton therapy was initiated at the time of diagnosis and was effective for pruritus after 6 months of treatment. CONCLUSION: We report 2 cases of SLS with delayed diagnosis, due to non neonatal symptoms. Treatment with zileuton shows partial efficacy especially in pruritus. The uncommon association of this rare dysmyelinating disease with Guillain-Barré syndrome in the second patient is discussed.

[Treatment of severe hemophagocytic syndrome associated with visceral leishmaniasis]. / Traitement du syndrome d'activation macrophagique sévère associé à une leishmaniose viscérale.

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.

[Recurrent pericarditis revealing a malignant mediastinal mesenchymoma]. / Péricardite récidivante révélatrice d'un mésenchymome malin du médiastin.

INTRODUCTION: The malignant mesenchymoma is a malignant tumour composed of two or more types of non-differentiated tissue, associated with fibrosarcomatous elements. Its mediastinal localisation is exceptional. OBSERVATION: In a 65 year-old woman, recurrent pericardial effusion revealed a malignant mesenchymoma measuring 11 x 9 x 4 cm, located in the mediastinum and extending towards the pericardium. The histological examination of the surgical piece showed the predominance of an osteo-sarcomatous component. Complete resection was performed with partial pericardectomy, followed by adjuvant radiotherapy. CONCLUSION: Malignant mediastinal mesenchymoma is an exceptional tumour. Its diagnosis is based on anatomopathological study of a mass of anarchic composition, and its poor prognosis is related to its localisation and its capacity to relapse locally.

[Prevalence of severe mental retardation and trisomy 21 in 3 generations: 1972, 1976, and 1981]. / Prévalence des retards intellectuels sévères et des trisomies 21 dans 3 générations: 1972, 1976 et 1981.

With the aim of studying whether improved prenatal and perinatal care would lead to a decrease in the prevalence of severe mental retardation and/or in Down syndrome, handicapped children born in 1972, 1976 and 1981 and residing in 14 French "departements" were systematically registered in 1985-86 and 1989 in collaboration with the "Commissions Départementales de l'Education Spéciale" (CDES), which centralizes requests for specialty services. The findings showed a stable rates of Down's Syndrome (0.7 p. 1000 in 1972, 0.8 p. 1000 in 1976 and 0.9 p. 1000 in 1981) and of severe mental retardation (1.6 p. 1000 in 1972, 1.5 p. 1000 in 1976 and 1.6 p. 1000 in 1981) in the three generations among children below the age of 9 years. The survey shows that implementation of perinatal health care programs starting in the 1970s, had not been followed by a decrease of severe mental retardation prevalence or Down syndrome prevalence across the three generations 1972, 1976 and 1981.

Motor disability in children in three birth cohorts.

A systematic registration was carried out in 1985-1986 and 1989 in 14 French 'departments' in order to assess whether the prevalence rates of different components of motor disability (MD) in three different birth cohorts (1972, 1976 and 1981) had changed at a time when the preterm birth rate and neonatal mortality were decreasing and there was evidence of changing perinatal practice. A total of 1355 MD were registered amongst resident children born in 1972, 1976 and 1981 with a prevalence of 3.34 per 1000. The prevalence of the MD types due to different causes did not differ significantly amongst the three birth cohorts with the exception of an excess of hereditary and degenerative disease of the central nervous system (CNS) among children born in 1981. The prevalence of cerebral palsy (CP) remained stable in the three birth cohorts: it was 1.30, 1.06 and 1.08 per 1000 respectively, for children born in 1972, 1976 and 1981. The prevalence of pre- or perinatal-origin of other motor disabilities (OMD) and of CNS malformations did not differ amongst the three birth cohorts. The method of registration is discussed and the results are related to those of the French perinatal surveys performed in 1972, 1976 and 1981, which showed a decrease in preterm birthrate, an increase in perinatal care and a decrease in the mortality rate of high-risk infants.