2015, Number 3
Rev Mex Neuroci 2015; 16 (3)
Meza CME, García TV
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ABSTRACTBackground: Huntington disease is a rare neuropsychiatric disorder with a prevalence of 5-10 per 100,000 in the Caucasian population. There exist a variant called after Westphal, that appears between 10 and 20 years of age, manifesting as a rigid–akinetic syndrome, with myoclonic seizures and cerebellar symptoms in the absence of chorea.
Case report: A 16-year-old female with a family history of paternal grandmother with Huntington disease. At the age of 6 years she was diagnosed with attention deficit hyperactivity disorder that was treated only with psychological therapy. She presented an insidious course with lack of interaction with the environment, poor concentration, inattention and difficult with learning and school activities. She also presented stiffness in axial muscles, and then in left limbs, lastly the patient manifested bradykinesia. Subsequently hypokinetic dysarthria was evident associated with a slow gait. A contrast-enhanced MRI demonstrated a significant bilateral loss of volume of the caudate and putamen nucleus.
Genetic analysis showed 75 CAG repeats in the IT15 gene on the 4p16.3 chromosome.
Conclusion: With the clinical and genetic analysis of the IT15 gene we concluded with the diagnosis of Huntington disease Westphal variant. This case illustrates an infrequent presentation of the disease.