Seizures and rapidly progressing dementia as an initial presentation of cerebral lupus in a 58-year old male- a diagnostic challenge
Dr. L. Murray, Dr. A. Quereshi, Dr. A. Fraser, Dr. E. Chaila
Dept of Neurology & Dept Rheumatology, University Hospital Limerick, Dooradoyle, Limerick
SLE is a chronic, multi-system, autoimmune condition. Neuropsychiatric symptoms of SLE (NPSLE) vary in nature from mild headaches to debilitating strokes and psychosis1. NPSLE symptoms can be non-specific in nature, and this, coupled with their often protracted presentation, leads to difficulties in diagnosing NPSLE, ultimately delaying appropriate treatment and increasing the risk of organ damage.
We present the case of a 58-year old Caucasian male who initially presented with focal onset seizures followed by a rapidly progressive dementing process. He exhibited a rapid cognitive decline across multiple domains, becoming dysexecutive, emotionally disinhibited and displaying severe short-term memory loss.
An MRI was not feasible due to a metallic object in the eye and an extensive array of haematological, immunological and neuro-imaging tests were within normal parameters, outruling many of our differential diagnoses. Initial ANA and DsDNA testing was negative, but he consequently developed an erythematous, discoid facial rash, which was considered clinically in keeping with possible SLE. A skin biopsy consequently confirmed histological changes classical for SLE and at this juncture, repeated serological testing confirmed that he had sero-converted and was now positive for ANA and DsDNA antibodies, with low C3 compliment.
A diagnosis of NPSLE was made and the patient was commenced on induction dose IV cyclophosphamide as per the Birmingham protocol, and methylprednisone, followed by cellcept and oral prednisolone maintainence therapy. Initially the patient demonstrated a significant response to treatment in both functional and behavioural domains and was discharged to the family home. Regrettably, he continued to deteriorate cognitively, resulting in his admission to a long-term care facility.
The non-specific nature of NPSLE makes diagnosis difficult, delays appropriate treatment and risks organ damage. This patient presented serially, but retrospectively met 5 of the 11 ACR criteria for SLE. We believe this case highlights a number of clinically important findings:
1. A deviation from the widely acknowledged epidemiological cohort of patient with SLE- instead of a female of child bearing age, as is most commonly affected2, we present a 58 year old Caucasian male.
2. A highly unusual presentation of SLE; a rapidly progressing dementia rather than the more common facial rash or arthralgia symptoms.
3. The diagnostic difficulties faced by clinicians in confirming NPSLE, which still remains a diagnosis of exclusion and expert opinion, particularly in a patient who was initially ANA and DsDNA negative and in whom MRI brain was contraindicated
We make the case that NPSLE should be considered as a key differential diagnosis for patients presenting with a rapidly progressing dementia.