Ataxia as an initial presentation of Sporadic Creutzfeld - Jakob disease : an atypical case report and literature review

Abstract

: Sporadic Creutzfeldt Jakob disease is a rare, fast-progressing neurodegenerative disease with a fatal outcome. Even though its treatment options are scarce, and there is no cure for the disease, adequate diagnosis can help patients and their families come to terms with the disease on time, and give them valuable time to plan accordingly. We report a case of a patient presenting to our emergency department with a 2-week history of ataxia, and oscillopsia. Her initial neurological examination revealed subtle dysarthria, diplopia with left gaze, wide-based ataxic gait with occasional small steps, sinistro-pulsion in the Romberg position, and ataxia of the limbs, predominantly of the left arm. The patient at that time did not exhibit cognitive impairment, movement disorders, or other neurological signs. Her initial brain MSCT was without lesions or other pathomorphological supstrate. During hospitalization, treatable causes were firstly excluded with blood and CSF lab tests excluding metabolic, toxic, infectious, autoimmune, and paraneoplastic causes. Detailed medical history revealed subtle personality changes, while cognitive testing revealed moderate cognitive impairment. Brain MRI and EEG 4 days after hospitalization reported typical changes seen with advanced prion disease surprisingly being the fact that the patient had a mild to moderate clinical picture. RtQuIC analysis of the CSF was performed to prove probable sCJD and was positive. The patient’s family were given instructions, while the wishes of the patient, and family members were fulfilled concerning planning future care. After-ward, the patient’s state deteriorated rapidly as per the tragic prognosis of sCJD resulting in akinetic mutism, and death. Ataxia without cognitive impairment, rigor, or movement disorders is an uncommon clinical presentation for a disease with a 1:1 000 000 incidence rate. Modern diagnostic methods in way of more advanced brain MRI capabilities, and RT-QuIC obviate the need for complicated, and potentially infectious brain biopsy in diagnosing sCJD. Alongside the case report, we present a short but comprehensive literature review of modern data regarding the sCJD. This case report and literature review serve to educate clinicians about this rare but devastating disease.