IntroductionL'objectif de ce travail etait d’étudier la prévalence du surpoids et de l'obésité chez un groupe d'enfants d’âge scolaire, habitant la ville de Sfax en Tunisie, et identifier les facteurs favorisant la prise pondéraleMéthodesIl s'agossait d'une enquête descriptive transversale était réalisée en 2011 sur un échantillon représentatif d’élèves recrutés dans 11 écoles primaires publiques. Des informations concernant les caractéristiques sociodémographiques, les habitudes alimentaires et le comportement sédentaire pour chaque élève ont été précisées au moyen d'un questionnaireRésultatsNous avons colligé 1529 élèves, âgés entre 9 et 12 ans et se répartissant en 787 garçons (51,14%) et 747 filles (48,86%). Selon les seuils de référence de l'IOTF, la fréquence de l'obésité était de 2,4% et celle du surpoids était de 6,3%. L'obésité était significativement associée à l'obésité parentale, un niveau socioéconomique élevé, la prise de plus de deux goûters par jour et à l'activité sédentaire.ConclusionL'identification des facteurs de risque du surpoids et de l'obésité infantile permettrait de dépister les enfants à risques afin de leur proposer des mesures de prévention adaptées. Ces mesures de prévention devraient inclure non seulement des approches individuelles, mais aussi l'environnement social et physique de l'enfant.
Background
Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients.
Results
We report for the first time thyroid function impairment in CDS. Among 12 investigated patients, 7 showed thyroid function impairment. All of them were over 30 of age. The 5 remaining investigated patients with normal thyroid function were under 30. Thyroid loss of function is an unknown clinical feature of CDS that could gradually develop with age. Thyroid ultrasound showed an abnormal aspect in all investigated patients (6 with thyroid impairment and 3 with normal thyroid function). Cervical MRI done in 2 patients with thyroid impairment showed fat infiltration of thyroid parenchyma. Audiogram carried out in 8 of our patients showed sensorineural hearing impairment in all patients, although only 2 patients suffered from clinical hypoacusia. We also demonstrated that kidney could be a more commonly involved organ than previously reported in the literature. A poorly differentiated kidney parenchyma is a common feature in our series. One patient showed cerebellar atrophy and T2 hypersignal of brain’s white matter in MRI. All patients carried the same founder mutation c.773(− 1)G > A in the
ABDH5
gene.
Discussion
Aside from the congenital ichthyosiform erythroderma, the most common symptom of CDS, in addition to other organs involvement frequently reported in the literature, we described thyroid dysfunction, an unreported feature, probably related to the lipid infiltration of the thyroid parenchyma. The association found between age and hypothyroidism in CDS patients could explain the gradually development of thyroid disease with age.
Conclusion
We reported a thyroid dysfunction and unreported ultrasonographic aspects of kidneys and cerebral MRI in CDS patients.
Methods
We performed clinical analyses in 15 patients in whom thyroid, liver, ocular, kidney, skeletal muscle and neurological involvement were explored. Genetic and molecular explorations were performed by direct sequence analysis. Software SPSS, Fisher’s exact test and ANOVA were used for statistical analyses.
Electronic supplementary material
The online version of this article (10.1186/s13023-019-1095-4) contains supplementary material, which is available to authorized users.
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