Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.

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IntroductionEpilepsy is a public health problem that often affects personal and social patients’ life. Self-esteem, an important factor contributing to psychosocial well-being, is generally disrupted in epilepsy.ObjectiveThe aim of our study was to assess self-esteem and factors associated in patients suffering from epilepsy.MethodsWe conducted a cross-sectional, descriptive and analytic study, including 20 patients followed for epilepsy at neurology outpatient department, Habib Bourguiba hospital, Sfax, Tunisia. We collected socio-demographic and clinical characteristics, and used the Rosenberg Self-Esteem Scale (RSES).ResultsThe mean age was 35.9 ans. Sex-ratio (M/F) was 3. Hobby practice was noted in 45% of cases. The disease evolves since 19.9 years on average. A worsening of health in the last year was felt in 30% of cases. The stigma was reported in 30% of patients. Self-esteem was: very low 5%, low 40%, average 40%, and high 15%. It was better among married patients, living in family and those with disease evolving since more than 10 years, but without a significant correlation. The factors correlated with good self-esteem were: practicing a hobby (P = 0.006) and absence of stigma (P = 0.001). Poor self-esteem was significantly correlated with perceived health worsened during the last 12 months (P = 0.02). It was poor in unstable patients professionally, but without significant correlation.ConclusionOur study confirms the decline of self-esteem in patients with epilepsy. A better education of these patients to accept their illness, as well as raising public awareness on this affection could facilitate social insertion and improve self-esteem.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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