Maladie de Huntington juvénile et les difficultés rencontrées par les enfants non symptomatiques vivants dans une famille touchée par la maladie

Abstract : Huntington disease (HD) is a neurodegenerative disease of genetic origin, fewer than 10% of patients present before the age of 20. This study based about 37 children and adolescents born in family affected by HD, and admitted to the juvenile HD (JHD) Central Ward from 2005 to 2017. We studied the reason of consultation, the initial symptomatology of JHD, secondary difficulties linked to parental disease and approach to diagnose at this age. 18 out of 37 patients develop symptoms suggestive of JHD: none of them present the suggestive triad of clinical characteristics of HD that are present in adult, their initial symptomatology’s low rate specificity make the approach to diagnose more complicated. In fact, the genetic testing can be theoretically unfavorable in 50% of the cases, and do not allow differentiating the pre-symptomatic and predictive genetic testing from symptomatic patient’s testing. At this age, it is therefore necessary to discuss many differential diagnoses and we believe that neuropsychological assessments and MRI are essential. We were surprised by numbers of patients who have troubles in learning (neurodevelopmental disorders) (66%) and scoliosis (27%). For 17 patients out of 37, their symptomatology is secondary to dysfunction created by parental disease and for 2 patients, another disease were diagnosed. This study shows the difficulty in JHD diagnosis at the beginning of the disease and complexity to approach and diagnose. Thus, the direction of genetic testing in minors need to be discussed with the child and his or her parents, while respecting the legislation.
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Master Thesis
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Minh Hanh Phan. Maladie de Huntington juvénile et les difficultés rencontrées par les enfants non symptomatiques vivants dans une famille touchée par la maladie. Médecine humaine et pathologie. 2018. ⟨dumas-02171131⟩

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