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Citation
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Matzkin G, Katz R, Rahm S, Kanakrieh Y, Undavia A, Gilman M. CNS Spectr. 2020; 25(2): e298. |
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Abstract
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TITLE: A Lost Family Secret Masquerading as Schizoaffective Disorder and Traumatic Brain Injury A Atypical, Non-Choreiform Subtype of Huntington's Disease. STUDY OBJECTIVES: 1Describe a case of an atypical presentation of Huntington's Disease who presented to our acute inpatient setting with the diagnoses of schizoaffective disorder and traumatic brain injury.2Recognize the importance of identifying medical/neurological disease that may be masked by psychiatric symptoms.3Identify areas for improvement for patient-doctor-caregiver communication.
METHOD: Direct patient care, chart review, expert consultation and collateral biographical information obtained from multidisciplinary sources. Performed at Albert Einstein Medical Center, Philadelphia, Pennsylvania.
RESULTS: After re-evaluation of a patient discharged from our care with inconclusive MRI brain imaging, it was discovered with prior genetic testing that his unique presentation was in fact an atypical form of Huntington's Disease with 46 CAG on the IT15 allele 1 on chromosome 4 which is greater than the >36 repeats required for a diagnosis of Huntington's disease.
CONCLUSIONS: A thorough history taking and willingness to question an admitting psychiatric diagnosis is an important skill for any clinician. We favored our patient's diagnosis of schizoaffective disorder due to the circumstances of his arrival and his atypical presentation of Huntington's disease without the characteristic choreiform movements. His bizarre mannerisms were attributed to his history of TBI and psychotic illness. Oddly enough, the initial medications on which the patient presented were consistent with those often prescribed for the psychotic and mood symptoms of HD, and it is possible that his prior providers may have been treating him but failed to fully educate the patient on the nature of his disease. Although many of the treatments are similar, we felt that the patient was owed an answer about the truth underlying his condition so that he could prepare for the natural course of his illness and be allowed to seek out anything that could delay or reverse his illness. Huntington's disease is known by its stereotypical choreiform movements; however, the psychiatric co-manifestations may present in up to 10 percent of HD patients with the atypical form which has less-pronounced movement abnormalities and can be interpreted as a psychiatric illness, while overlooking the underlying neurological pathology. Currently, many of the tests are cost prohibitive and require persistence to obtain genetic testing and detailed radiological imaging, but as medical providers, we are ultimately responsible for helping our patients overcome these barriers to offer them the best and most comprehensive care.
Language: en |