Diagnostic Challenges and Treatment of the Neuropsychiatric Symptoms of Adult-Onset Niemann-Pick Type C With Electroconvulsive Therapy
| Autor: | Alexis Cohen-Oram, Rachel Foels, Kimberly Hartney |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Psychosis Ataxia medicine.diagnostic_test business.industry Catatonia medicine.medical_treatment Therapeutic effect Disease medicine.disease 030227 psychiatry 03 medical and health sciences Psychiatry and Mental health 0302 clinical medicine Electroconvulsive therapy Arts and Humanities (miscellaneous) Miglustat Medicine medicine.symptom business 030217 neurology & neurosurgery Applied Psychology Genetic testing medicine.drug |
| Zdroj: | Psychosomatics. 61:752-755 |
| ISSN: | 0033-3182 |
| Popis: | Adult onset Niemann- Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that presents with heterogenous neuropsychiatric symptoms. Because of the variation of presentations, the diagnosis is often delayed or overlooked. Another treatment challenge is that currently there is only one FDA approved treatment, Miglustat, a reversible glycosphingolipid synthesis inhibitor, and it takes up to six months for therapeutic effect. We present a case report of a 27 year-old woman who was admitted to a medical hospital for inpatient work-up of altered mental status. Her initial symptoms were mild impairments in attention, bradykinesia, and ataxia that eventually progressed to an episode of acute encephalopathy with psychosis and catatonia. She underwent a comprehensive neurologic and medical work-up which was non-revealing, and then had genetic testing which revealed NPC. She was trialed on multiple medications in an attempt to manage her neuropsychiatric symptoms with minimal benefit. The decision was made to proceed with electroconvulsive therapy (ECT) with marked improvement in her symptoms after just one treatment, and continued response throughout all 18 treatments she has received thus far. While the patient has had relapses in her encephalopathic symptoms during the course of ECT treatments, additional ECT treatments following have been the most effective in returning her to her new baseline and allowing her to remain functional during this time. |
| Databáze: | OpenAIRE |
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