A 47-year-old woman comes to the office due to a recent change in mood. The patient says, "I began feeling really down about 3 months ago, but I can't think of anything that may have caused this. I'm also much more irritable with my family and friends than I used to be." She has no history of psychiatric illness. She also notes, "I've been having a lot of problems at work. It's a lot harder to plan and organize my day than it used to be, and I've been missing a lot of deadlines." The patient is very concerned about her symptoms because her father died in his mid-60s, 10 years after developing similar symptoms. Temperature is 36.9 C (98.4 F), blood pressure is 119/77 mm Hg, pulse is 64/min, and respirations are 14/min. She is fully oriented but scores a 24/30 on the Montreal Cognitive Assessment (normal: ≥26), losing points on tests of executive function. On examination, she demonstrates abrupt and random jerking movements throughout the extremities and face. Extraocular movement testing reveals delayed initiation of saccades, but slit lamp examination is normal. Gait is normal. The patient is unable to maintain her grip on grip testing. Sensation is intact in the distal extremities. Which of the following is the most likely diagnosis?

Question

A 47-year-old woman comes to the office due to a recent change in mood.  The patient says, "I began feeling really down about 3 months ago, but I can't think of anything that may have caused this.  I'm also much more irritable with my family and friends than I used to be."  She has no history of psychiatric illness.  She also notes, "I've been having a lot of problems at work.  It's a lot harder to plan and organize my day than it used to be, and I've been missing a lot of deadlines."  The patient is very concerned about her symptoms because her father died in his mid-60s, 10 years after developing similar symptoms.  Temperature is 36.9 C (98.4 F), blood pressure is 119/77 mm Hg, pulse is 64/min, and respirations are 14/min.  She is fully oriented but scores a 24/30 on the Montreal Cognitive Assessment (normal: ≥26), losing points on tests of executive function.  On examination, she demonstrates abrupt and random jerking movements throughout the extremities and face.  Extraocular movement testing reveals delayed initiation of saccades, but slit lamp examination is normal.  Gait is normal.  The patient is unable to maintain her grip on grip testing.  Sensation is intact in the distal extremities.  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec25c8_d148_aa8f_bc81_2fc974f0f10f_MD0003_00 This patient's cognitive dysfunction, psychiatric symptoms, chorea (ie, abrupt, jerking movements that seem to travel from one muscle group to the next), delayed saccades, motor impersistence (ie, inability to sustain grip), and family history are consistent with a diagnosis of Huntington disease (HD). HD is an autosomal dominant CAG trinucleotide repeat expansion disease. Psychiatric manifestations may include depression, irritability, psychosis, and/or obsessive-compulsive symptoms. Because motor symptoms of HD are often subtle in its early stages, psychiatric and cognitive symptoms may be the earliest manifestations. With no known disease-modifying treatment, HD is inevitably fatal; death usually occurs 10-20 years following initial symptom onset. (Choice A) Severe major depressive disorder can present with significant cognitive impairment in elderly patients (often called "pseudodementia"), which may be mistaken for a dementing syndrome. This patient's clinical presentation is more consistent with HD. (Choices B and F) Ataxia (impaired smooth movement coordination) is the hallmark finding of both Friedreich ataxia and spinocerebellar ataxia and often presents as impaired gait; it is notably absent in this patient. Friedreich ataxia is an autosomal recessive GAA trinucleotide repeat expansion disease characterized by neurological impairment (eg, limb ataxia, sensory neuropathy), insulin resistance, and cardiomyopathy. Spinocerebellar ataxia type 1 is an autosomal dominant disorder that presents with cerebellar ataxia and cranial nerve dysfunction (eg, dysarthria). (Choice C) Frontotemporal dementia presents with executive dysfunction and personality change. This patient's presentation with chorea and saccades is better explained by HD. (Choice E) Parkinson disease is characterized by resting tremor, rigidity, and bradykinesia. (Choice G) Wilson disease is an autosomal recessive disorder of impaired copper metabolism that presents with liver disease and neuropsychiatric findings. Although Wilson disease may be characterized by prominent neurological and psychiatric findings (eg, dysarthria, dystonia, depression), essentially all patients with neurological signs/symptoms have evidence of corneal copper accumulation on slit lamp examination (ie, Kayser-Fleischer rings). Educational objective: Huntington disease (HD) presents with psychiatric symptoms (eg, depression, irritability), cognitive impairment, and chorea. HD is an autosomal dominant CAG trinucleotide repeat expansion disorder with no known disease-modifying treatment. References: Huntington's disease: a clinical review. (http://www.ncbi.nlm.nih.gov/pubmed/28817209)

A 47-Year-Old Woman Comes to the Office Due to a Recent