Huntington disease

Case contributed by Dr Dalia Ibrahim

Presentation

Seizures, ataxia and abnormal body movements.

Patient Data

Age: 20 years
Gender: Female

Brain

MRI
  • marked atrophy of both caudate heads
  • atrophy of both putamina which shows abnormal signal eliciting low signal at T1 WI and high signal at T2 WI
  • diffuse cerebral and cerebellar atrophy

Case Discussion

The case demonstrates typical appearances of Huntington's disease, with atrophy of the caudate heads with subsequent enlargement of the frontal horns, often giving them a "box" like configuration.

The putamina are also atrophied and demonstrate increased T2 signal, this would increase the possibility of "Juvenile form" of Huntington disease.

Generalized brain atrophy.

Huntington disease (HD), also known as Huntington chorea, is an autosomal dominant neurodegenerative disease.

Huntington disease is typically diagnosed between 30 and 50 years of age, however in approximately 1-6% symptoms occur before the age of 20 years, so-called 'juvenile' form, which appears to be a variant of the usual adult form, with a different pattern of symptoms which usually demonstrate cerebellar symptoms, seizures, mental deterioration, “Parkinson-like” rigidity and hypokinesis. Chorea, which is typical for adult HD, is rarely seen in the initial stages of juvenile HD.

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