T. Haufe (Institut f. Diagn. Radiologie im Städtischen KH Dresden-Neustadt)  

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15 Years  

Male  

Head-Brain and brain nerves  

congenital  

15 year old boy, normal early development, afterwards cerebral decline with dementia and behavioral disturbance, increased muscle tone and atactic gait. Family hstory positive for neurodegenerative disease with early death of grandmother on father's side.  

Defect on chromosome 4Q, autosomal dominant heredity,
symptoms result pathophysiologically from a genetically acquired dominance of Dopamine with deficiency of Acetylecholine.  

<- view MRI 1

MRI 1: T2/Flair transversal: signal intense Putamen and Caput nuclei caudati bilat., symmetrical





<- view MRI 2

MRI 2: T1 IR-TSE coronal: Atrophy of the Basal ganglia with widening of the III. Ventricle and of the anterior horns of the lateral ventricles.





<- view MRI 3

MRI 3: T1 native transversal: decreased differentiation of the Basal ganglia, diminished waist of the anterior horns of the lateral ventricles due to atrophy of the Caput cuclei caudati bilateral.





<- view MRI 4

MRI 4: T1 Spir Gd transversal: no pathologic enhancement detectable



 

Genetics  

Mitochondrial encephalopathy (Morbus Leigh)  

About 6% juvenile forms of Huntington's Chorea,
progressive dementia and behavioral disturbance,
deadly course after 10-15 years after beginn of illness  

N/A  

N/A  

1. Medline:
A.James Barkovich
Pediatric Neuroimaging

2. Medline:
Berlit/Seeger
Neurologie  

Chorea Huntington, neurodegenerative disease, juvenile Huntington's Chorea, child, childhood, pediatric radiology  

T Haufe. Juvenile form of Huntington's Chorea. PedRad [serial online] vol 4, no. 11.
URL: www.PedRad.info/?search=20041110101528