Tennessee Medicine E-Journal


This is the first case report of an overlap syndrome not previously observed. Normal pressure hydrocephalus (NPH) is characterized by the clinical triad of abnormal gait, urinary urgency with urge incontinence, and dementia that commonly manifests in the sixth or seventh decade of life. Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that most commonly presents with Raynaud’s phenomenon (RP), arthralgias, swollen hands, and muscle weakness. NPH has been described in association with systemic lupus erythematosus (SLE), but has never been reported in MCTD. MCTD and SLE do share a spectrum of CNS neuropsychiatric syndromes. It may simply be that MCTD is rarer than SLE: perhaps it was just a matter of time before NPH would be described in a patient with MCTD. However, several observations are posited that suggest more than a chance co-occurrence of these two rare diseases.