Overcoming the Elusiveness of Neurosarcoidosis: Learning from Five Complex Cases

Abstract

The involvement of the central nervous system in sarcoidosis can manifest with a variety of neurological symptoms, and most of them can be nonspecific. The diagnosis of neurosarcoidosis (NS) can therefore be very challenging without a tissue biopsy. Both computed tomography (CT) and magnetic resonance imaging (MRI) are important imaging modalities in the diagnosis of NS, and MRI is the modality of choice due to its superior soft-tissue contrast resolution. We present a case series of NS with interesting neuroimaging features, complex neurological presentations, and clinical courses. We identify five cases presenting with clinically isolated neurosarcoidosis (CINS) without any other signs or symptoms of systemic disease which were diagnosed as NS on biopsy. In the first case, we describe a patient with an intramedullary cervical spinal cord lesion. In the second case we describe a patient presenting with inflammatory changes and enhancement in the orbit. The third case demonstrates a lesion with calcification around the region of the foramen of Monro. The fourth case shows multiple ring-enhancing lesions. Lastly, the fifth case exhibits unusual findings with both optic neuritis and a cerebellar nodule. We aim to describe the complicated clinical course with neurological workup, neuro-imaging, and eventual diagnosis and treatment of these challenging cases to highlight the variable presentations of NS. This case series will remind clinicians that NS should always be in the differential diagnosis when a patient presents with nonspecific neurological symptoms with unusual neuroimaging findings.

Educational Case: Neuromyelitis optica

“…Sarcoidosis is a granulomatous inflammatory disorder that most often involves the lungs and lymph nodes in young adult female patients, but involves the nervous system alone in 5–15% of cases. 6 Neurosarcoidosis can cause an intramedullary spinal cord lesion, optic neuritis, ring-enhancing cerebral lesions, a cerebellar nodule or other types of lesions, but each type of lesion is rarely caused by sarcoidosis. 6 Without other features of sarcoidosis, this diagnosis is unlikely.…”

“… 6 Neurosarcoidosis can cause an intramedullary spinal cord lesion, optic neuritis, ring-enhancing cerebral lesions, a cerebellar nodule or other types of lesions, but each type of lesion is rarely caused by sarcoidosis. 6 Without other features of sarcoidosis, this diagnosis is unlikely.…”

Neurosarcoidosis Presenting as Young-Onset Chronic Headache: A Case Report

“…In addition to the rarity of neurosarcoidosis, the absence of firm diagnostic criteria and unavailability of the tissue biopsy sometime present challenges in making the diagnosis. The neuroimaging findings complemented with the CSF findings can help exclude differentials and aid in the diagnosis [ 9 , 10 ]. The imaging modality of choice for the neurological disease is contrast-enhanced MRI.…”

Neurosarcoidosis, manifestaciones clinicas, abordaje diagnóstico y opciones terapéuticas

“…Los criterios afirman la centralidad de la histopatología para el diagnóstico; por lo tanto, se definió que para muy probable neurosarcoidosis se requiere biopsia de tejidos neurales afectados, tanto centrales como periféricos. La demostración de patología sarcoidea con tejido no neuronal permite el diagnóstico de probable neurosarcoidosis, y en ausencia de biopsia, posible neurosarcoidosis puede diagnosticarse en función de los hallazgos clínicos, de diagnóstico por imágenes y de laboratorio (12). En el caso de la sarcoidosis del sistema nervioso periférico, los estudios de conducción nerviosa y la electromiografía no muestran cualquier hallazgo específico que sugiera sarcoidosis.…”

“…En el caso de la sarcoidosis del sistema nervioso periférico, los estudios de conducción nerviosa y la electromiografía no muestran cualquier hallazgo específico que sugiera sarcoidosis. Por tanto, la confirmación histológica del tejido afectado es necesaria para un diagnóstico de neurosarcoidosis periférica, y se requiere evidencia de enfermedad sistémica para un diagnóstico de probable neurosarcoidosis periférica (12). Es importante recordar que las imágenes sistémicas son útiles para demostrar la sarcoidosis en tejidos extraneurales y proporcionan posibles objetivos para la biopsia.…”