A 42-year-old woman comes to the office with her husband for evaluation of abnormal movements. The patient has been having involuntary facial grimaces and extremity fidgeting. She has no prior medical or psychiatric conditions, but her husband says she has had frequent anger outbursts over the past year. The patient takes no medications. She smoked cigarettes and used illicit drugs for several years during college but not since then. Her father died of a neurological disorder at age 55. Physical examination shows intermittent, fidgety, jerky movements of the hands. MRI of the brain is ordered. Which of the following neuroimaging findings is most likely to be seen in this patient?

Question

A 42-year-old woman comes to the office with her husband for evaluation of abnormal movements.  The patient has been having involuntary facial grimaces and extremity fidgeting.  She has no prior medical or psychiatric conditions, but her husband says she has had frequent anger outbursts over the past year.  The patient takes no medications.  She smoked cigarettes and used illicit drugs for several years during college but not since then.  Her father died of a neurological disorder at age 55.  Physical examination shows intermittent, fidgety, jerky movements of the hands.  MRI of the brain is ordered.  Which of the following neuroimaging findings is most likely to be seen in this patient?

Quizplus · Accepted Answer

11ec160b_39c5_fb02_9249_753481a51558_MD0001_00 This patient with chorea (eg, fidgety, jerky, involuntary movements), behavioral abnormalities (eg, outbursts of anger), and a family history of a fatal neurological disease likely has Huntington disease (HD). HD is an autosomal dominant, progressive neurodegenerative disorder that results in the production and accumulation of abnormal huntingtin protein, which is toxic to neurons. Although patients with HD display generalized cortical atrophy as the disease progresses, the most prominent atrophy is seen bilaterally in the caudate nucleus and putamen, leading to the enlargement of the frontal horns of the lateral ventricles. The loss of inhibitory GABAergic neurons in these areas causes decreased regulation of the movement and behavioral centers of the cerebral cortex, resulting in the characteristic constellation of symptoms in patients with HD. (Choice A) Diffuse ventriculomegaly without sulcal widening is seen in normal pressure hydrocephalus (eg, urinary incontinence, gait disturbance, cognitive impairment) due to an increase in cerebrospinal fluid volume. In contrast, neurodegenerative disorders such as Huntington disease typically present with both ventriculomegaly and sulcal widening due to generalized cortical atrophy. (Choice C) A hypoplastic cerebellar vermis with cystic dilation of the fourth ventricle and a posterior fossa cyst is characteristic of congenital Dandy-Walker malformation. Although the diagnosis of Dandy-Walker malformation can be delayed into early adulthood, patients typically have a long history of chronic headaches and neurologic abnormalities (eg, unsteady gait, facial palsy). (Choices D and E) Early-onset Alzheimer disease (eg, bilateral hippocampal atrophy) or frontotemporal dementia (eg, frontal/temporal lobe atrophy) can present in patients as early as the fourth decade. However, changes in memory, speech, or behavior are the predominant symptoms at presentation; movement abnormalities (eg, myoclonus, akinesia, hyperreflexia) typically develop later in the disease course. Educational objective: Huntington disease is an autosomal dominant neurodegenerative disorder that manifests with chorea (eg, involuntary, jerky, fidgety movements) and behavioral abnormalities (eg, aggressiveness, depression). Characteristic neuroimaging findings include atrophy of the caudate nuclei which results in enlargement of the frontal horns of the lateral ventricles.

A 42-Year-Old Woman Comes to the Office with Her Husband