engleski

Progression of Juvenile Huntington's Disease (JGH) with Dysarthrophonia as Presenting Symptom:A Case Report

Background. Juvenile Huntington’s Disease defined as onset of symptoms under 20 years, usually paternal inheritance and expansions beyond 60 CAG repeats comprises 5-7% of all HD patients. Less than 1% of all HD patients present before the age of 10. We report a progression of a rather unusual juvenile onset of the disease in 8 and a half year-old boy who presented with dysarthrophonia 5 years ago. Case history. Proband’s already deceased father had classical HD symptoms including dysarthrophonia. Molecular analysis has showed 43 triplet repeats on one allele and 25 on the other. Dysarthrophonia predated motor symptoms by almost 3 years though the child was rather “clumsy” since the very beginning. At the age of 6 years impossibility to stand on his right foot, discrete ataxic gait and bradykinesia have presented. RPM intelligence test showed no decline for his age and on MRI marked atrophy of both the caudate nuclei and cerebral cortex were found. At the age of 7and half years genetic testing confirmed 19 and 99 CAG repeats. Motor symptoms progressed to rigidity followed by frequent myoclonus, temporary whole body tremor, impossibility to walk and speak. Nowadays the child has 16 kg showing big difficulties in sitting and eating. Conclusion. Dysarthrophonia present in our proband may be an early feature of JHD that can precede motor symptoms. These findings highlight the importance of screening for speech defects in general in children with a family history of HD, especially since the decision to proceed with genetic testing is hard because of ethical and psychosocial reasons.

Juvenile Huntington’s Disease; dysarthrophonia; MRI; frequent myoclonus; genetic testing ;

nije evidentirano