RECHERCHES SCIENTIFIQUES

LE SYNDROME DE WOLFRAM Particularités épidémiologiques, cliniques et génétiques chez l’enfant : Etude rétrospective à l’unité de diabétologie de l’hôpital d’enfants de Rabat

The Wolfram Syndrome also said DIDMOAD, acronym for Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness is a rare and serious autosomal recessive genetic disease due to the multiple disadvantages entailed by it, with an average age of death of 30 years [2,3]. According to multiple published studies, this syndrome mainly affects females, and it is more common among the children of consanguineous marriages.This disease is caused by mutations in the gene WFS1 which codes for the wolframin, and which is located at the level of pancreatic cells [4, 5, 6]. The disease can manifest itself through a less common form called Wolfram type 2 syndrome. This disease can be seen as a progressive neurodegenerative process predominant in the central nervous and the endocrine systems. It causes a complex syndromic table made of diabetes mellitus and optic atrophy before the age of 15, followed by other attacks during its evolution such as a diabetes insipidus (DI), neurosensorial deafness, and urological disorders [8]. Other events are quite common during this syndrome such as neuropsychiatric damage and hypogonadism [9,10]. The goal of our study is to highlight the epidemiological, clinical and genetic features of this syndrome among children. It is a retrospective study in which we report 10 cases that have been diagnosed and followed by the unity of diabetes in paediatric P2, in Children’s Hospital, Rabat. Those patients are born from consanguineous marriages and they all presented a diabetes mellitus during their childhood with a median age of 5.8 years. The emergence of other symptoms at the time allowed evoking the Wolfram syndrome that has been confirmed by genetic studies. Thus, we got that the optic atrophy is present in all patients with an age average of 10.9 years, deafness is present in 70% of patients with an average age of 10.14, 50% of patients suffer from diabetes insipidus with an average age of 10.8 and 60% of patients have urological disorders with a mean age of 11.5 years.As a conclusion, we insisted on the need of a multidisciplinary intervention made up of endocrinologist, pediatrician, ophthalmologist, otorhinolaryngologist, nephrologist, Urologist, geneticist, psychiatric and surgeon in order to support and accompany both the patient and his family in long term follow-up

Référence743
Année2015
TypeThèse
Lien document
AuteurSebbar G
DisciplineCentre Hospitalier Universitaire Ibn Sina - Rabat
EncadrantImane Z