Early onset Huntington disease: a neuronal degeneration syndrome.
Huntington disease (HD) is an autosomal dominant, lethal neurodegenerative disorder of the central nervous system, caused by an uncontrolled expansion of a CAG 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 children a dominant picture of bradykinesia, rigidity, dystonia and epileptic seizures is noticed. The earlier onset is often associated with a paternal transmission of the disease allele to the offspring. We report here a rather unusual infantile onset of the disease in a little girl who presented with a history of seizures and psychomotor regression starting at the age of 3 years. A progressive cortical-subcortical atrophy, progressive cerebellar atrophy and lesions in the basal ganglia were found on MRI. An important expansion, of 214 triplet numbers, of the CAG repeat size associated with HD, was observed.


CONCLUSIONS
Juvenile Huntingdon disease should be considered in children suffering from a progressive neurodegenerative disease.
Seneca
Sara
S
Department of Medical Genetics, AZ-VUB, Laarbeeklaan 101, 1090 Brussels, Belgium. sara.seneca@az.vub.ac.be
Fagnart
Domique
D
Keymolen
Kathelijn
K
Lissens
Willy
W
Hasaerts
Daniele
D
Debulpaep
Sara
S
Desprechins
Brigitte
B
Liebaers
Inge
I
De Meirleir
Linda
L
D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011597:Psychomotor Performance / Q000502:physiology; D012640:Seizures / Q000209:etiology; D018911:Trinucleotide Repeats
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins