Management of Dysphagia in a Patient with Creutzfeldt-Jakob Disease

Abstract

Creutzfeldt-Jakob disease (CJD) is an incredibly rare and progressive neurodegenerative disorder that belongs to a category of diseases known as “transmissible spongiform encephalopathies”, or prion diseases. This inevitably fatal disease affects approximately one person per million annually worldwide, with an incidence of 300 cases yearly in the United States. CJD is characterized by the excessive accumulation of an abnormal natural occurring protein, PrPc. As the disease process advances, destruction of the cerebral architecture in sensory, motor, and associated areas can lead to oropharyngeal dysphagia. Management of this condition is mainly palliative, and a certain subset of patients will require a gastrostomy feeding tube for enteral nutrition. Our case discusses challenging issues with regards to GI management in these individuals, including options for enteric feeding. A 57-year-old female with a PMH significant for MDD, DM, HTN, and hypothyroidism presented to the psychiatry ward at the behest of her family due to personality changes. The patient's family history was pertinent for her grandmother dying at the age of 36 of an unknown rapidly progressing disease that lasted over the span of 36 months. The patient began exhibiting symptoms of progressive neurological decline over a period of three months. The patient eventually became non-verbal and semi-catatonic. Given the patient's family history, she then underwent evaluation for CJD. CSF studies for Tau and 14-3-3 protein returned positive. GI was consulted for endoscopy with PEG placement due to worsening and non-reversible dysphagia. Given her diagnosis, it was decided that percutaneous fluoroscopically guided gastrostomy tube placement was the safest course of action. The patient was subsequently admitted to hospice. This case details the challenges that a gastroenterology service can encounter in the evaluation and treatment of extremely rare CJD cases. There is still very little literature detailing appropriate invasive measures for these patients, and the specific type of CJD cannot be diagnosed without a post-mortem brain biopsy. In cases of variant CJD, there is evidence that lymphatic tissue such as tonsils, Peyer's patches, and the appendix store pathological prions, thus increasing the risk of exposing and contaminating endoscopy instruments. Given this risk factor, for patients with known or suspected CJD, percutaneous gastrostomy guided by ultrasound and fluoroscopy is the most preferable method of placement. Per current literature, endoscopically assisted PEG placement should be used only as a last resort, and the instrument should be placed in quarantine until the post-mortem diagnosis is confirmed. If vCJD is confirmed, the endoscope cannot be used again and should remain in quarantine indefinitely for laboratory analysis.