Neurosarcoidosis: diagnosis, therapy and biomarkers

OBJECTIVE The accurate quantification of human diabetic neuropathy is important to define at-risk patients, anticipate deterioration, and assess new therapies. RESEARCH DESIGN AND METHODS A total of 101 diabetic patients and 17 age-matched control subjects underwent neurological evaluation, neurophysiology tests, quantitative sensory testing, and evaluation of corneal sensation and corneal nerve morphology using corneal confocal microscopy (CCM). RESULTS Corneal sensation decreased significantly (P = 0.0001) with increasing neuropathic severity and correlated with the neuropathy disability score (NDS) (r = 0.441, P 3) defined an NFD of 6) defined a NFD cutoff of <20.8/mm2 with a sensitivity of 0.71 (0.42–0.92) and specificity of 0.64 (0.54–0.74). CONCLUSIONS CCM is a noninvasive clinical technique that may be used to detect early nerve damage and stratify diabetic patients with increasing neuropathic severity.

Neurosarcoidosis is a disorder that is difficult to diagnose and manage. We assessed its neurological manifestations in 649 patients seen at The Johns Hopkins Hospital, Baltimore, from 1975 through 1980. Neurological problems could be attributed to neurosarcoidosis in 33 patients (5.1%). The presenting manifestation of sarcoidosis was neurological in 16 (48%) of them. Cranial neuropathy was the most frequent problem, and a peripheral facial nerve palsy was the single most common abnormality. Other manifestations were aseptic meningitis, hydrocephalus, parenchymatous disease of the central nervous system, peripheral neuropathy, and myopathy. Three-quarters of the patients were treated with steroids. The outcome was good in 27 (82%) of 33 episodes of neurological dysfunction in 25 patients with a well-documented clinical course. A thorough investigation of patients with suspected neurosarcoidosis is recommended to establish the diagnosis, delineate the extent of disease, and guide therapy.

To report on the clinical presentations, laboratory abnormalities, treatment and outcomes in 54 patients with neurosarcoidosis (NS). Sarcoidosis is an inflammatory granulomatous disease affecting multiple organ systems. Neurosarcoidosis (CNS involvement) is seen in approximately 25% of patients with systemic sarcoidosis, although it is subclinical in most of these cases. Because of its rarity, exposure of neurologists to the clinical spectrum of NS is limited to case reports or short case series. A database of 3900 patients treated at the Vanderbilt Multiple Sclerosis Clinic between 1995 and 2008 was searched for 'neurosarcoidosis', 'neurosarcoid', 'sarcoidosis' and 'sarcoid'. Of the 162 patient records that were retrieved, 54 patients were found to meet the criteria for definite, probable or possible neurosarcoidosis and were reviewed, including their clinical presentation, Cerebrospinal fluid (CSF) findings, Magnetic resonance imaging (MRIs), biopsy results, treatment, and where available, outcomes 4 months to 20 years after onset of the presenting illness. Clinical presentations and imaging findings in NS were varied. Cranial nerve abnormalities were the most common clinical presentation and involvement of the optic nerve in particular was associated with a poor prognosis for visual recovery. Isolated involvement of lower cranial nerves had a more favorable outcome. T(2) hyperintense parenchymal lesions were the most common imaging finding followed by meningeal enhancement. Long-term treatment consisted of prednisone and/or other immunomodulators (azathioprine, methotrexate or mycophenolate mofetil). Unlike systemic sarcoidosis, there is difficulty in making tissue diagnosis when involvement of CNS is suspected. MRI and CSF studies are sensitive in the detection of CNS inflammation but lack specificity, making the ascertainment of neurosarcoidosis a clinical challenge. In addition the low prevalence of the disease makes clinical trials difficult and therapeutic decisions are likely to be made from careful reporting from case studies.