摘要
Huntington disease (HD) is an autosomal dominant, lethal neurodegenerative dis order of the central nervous system, caused by an uncontrolled expansion of a CA G dynamic mutation in the coding region of the IT15gene. Although a majority of patients have a midlife onset of the disease, in a small number of patients the disease manifests before 20 years of age. In adults, HD is mainly characterised by involuntary movements, personality changes and dementia. By contrast, in chil dren a dominant picture of bradykinesia, rigidity, dystonia and epileptic seizur es is noticed. The earlier onset is often associated with a paternal transmissio n of the disease allele to the offspring. We report here a rather unusual infant ile onset of the disease in a little girl who presented with a history of seizur es and psychomotor regression starting at the age of 3 years. A progressive cort ical-subcortical atrophy, progressive cerebellar atrophy and lesions in the bas al ganglia were found on MRI. An important expansion, of 214 triplet numbers, of the CAG repeat size associated with HD, was observed. Conclusion: Juvenile Hunt ingdon disease should be considered in children suffering from a progressive neu rodegenerative disease.
Huntington disease (HD) is an autosomal dominant, lethal neurodegenerative dis order of the central nervous system, caused by an uncontrolled expansion of a CA G dynamic mutation in the coding region of the IT15gene. Although a majority of patients have a midlife onset of the disease, in a small number of patients the disease manifests before 20 years of age. In adults, HD is mainly characterised by involuntary movements, personality changes and dementia. By contrast, in chil dren a dominant picture of bradykinesia, rigidity, dystonia and epileptic seizur es is noticed. The earlier onset is often associated with a paternal transmissio n of the disease allele to the offspring. We report here a rather unusual infant ile onset of the disease in a little girl who presented with a history of seizur es and psychomotor regression starting at the age of 3 years. A progressive cort ical-subcortical atrophy, progressive cerebellar atrophy and lesions in the bas al ganglia were found on MRI. An important expansion, of 214 triplet numbers, of the CAG repeat size associated with HD, was observed. Conclusion: Juvenile Hunt ingdon disease should be considered in children suffering from a progressive neu rodegenerative disease.
