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A Strange Butterfly: Metamorphosis of Sarcoidosis
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A1559 - A Strange Butterfly: Metamorphosis of Sarcoidosis
Author Block: A. L. Birdwell1, R. Estrada Anzueto1, T. Simpson1, S. A. Habib2; 1Pulmonary, University of Texas Health Science Center San Antonio, San Antonio, TX, United States, 2Pulmonary diseases, UTHSCSA, San Antonio, TX, United States.
Introduction: Neurosarcoidosis is a rare but well described manifestation of sarcoidosis, which only occurs in 5% of patients. The presentation as an intracranial mass lesion is atypical and poses a diagnostic challenge.
Case report: A 36-year-old male with history of polysubstance abuse presented with new onset seizures and imaging showed a brain mass. Magnetic resonance imaging showed a T2/FLAIR hyperintense signal throughout the left centrum semiovale extending to the periventricular white matter, which crosses midline at the genu of the corpus callosum into the right corona radiata, frontal lobe subcortical white matter, gyrus rectus, and to right centrum semiovale. Due to the regions involved, the diagnosis was concerning for a high-grade glioma. Further work-up with multiple scans showed extensive mediastinal and hilar lymphadenopathy concerning for metastatic disease. A lumbar puncture was performed showing an elevated total protein, lymphocytosis, normal glucose levels, negative cytology and negative cultures for bacteria, mycobacteria and fungi. Due to inconclusive work-up, he underwent a brain biopsy of the left frontal lobe and endobronchial ultrasound (EBUS) with sampling of stations 4R and 7. Pathology from both areas showed noncaseating granulomatous inflammation consistent with sarcoidosis.
Discussion: The signs and symptoms of neurosarcoidosis are variable and can involve different areas of the central nervous system (CNS). The most common presentation in patients with CNS sarcoidosis is seizures. Our patient presented with a large frontal lobe mass bridging the corpus callosum, which was initially diagnosed as a glioblastoma. Only 10% of neurosarcoidosis cases present with an isolated neurological symptom such as seizures. Additionally, sarcoidosis in the CNS has a predilection for the base of the brain, hypothalamus and pituitary gland, which is inconsistent with our patient’s presentation. A diagnosis of neurosarcoidosis is made by demonstrating evidence of systemic sarcoidosis and excluding other etiologies of neurologic disease. In our case, the presence of a frontal lobe mass crossing the midline was concerning for a primary brain prompting a brain biopsy. The presence of diffuse lymphadenopathy raised the concern for infectious etiologies, for which the patient underwent EBUS sampling. The demonstration of granulomatous inflammation in both sites, and the exclusion of infectious etiologies, clinched the diagnosis of sarcoidosis.
Author Block: A. L. Birdwell1, R. Estrada Anzueto1, T. Simpson1, S. A. Habib2; 1Pulmonary, University of Texas Health Science Center San Antonio, San Antonio, TX, United States, 2Pulmonary diseases, UTHSCSA, San Antonio, TX, United States.
Introduction: Neurosarcoidosis is a rare but well described manifestation of sarcoidosis, which only occurs in 5% of patients. The presentation as an intracranial mass lesion is atypical and poses a diagnostic challenge.
Case report: A 36-year-old male with history of polysubstance abuse presented with new onset seizures and imaging showed a brain mass. Magnetic resonance imaging showed a T2/FLAIR hyperintense signal throughout the left centrum semiovale extending to the periventricular white matter, which crosses midline at the genu of the corpus callosum into the right corona radiata, frontal lobe subcortical white matter, gyrus rectus, and to right centrum semiovale. Due to the regions involved, the diagnosis was concerning for a high-grade glioma. Further work-up with multiple scans showed extensive mediastinal and hilar lymphadenopathy concerning for metastatic disease. A lumbar puncture was performed showing an elevated total protein, lymphocytosis, normal glucose levels, negative cytology and negative cultures for bacteria, mycobacteria and fungi. Due to inconclusive work-up, he underwent a brain biopsy of the left frontal lobe and endobronchial ultrasound (EBUS) with sampling of stations 4R and 7. Pathology from both areas showed noncaseating granulomatous inflammation consistent with sarcoidosis.
Discussion: The signs and symptoms of neurosarcoidosis are variable and can involve different areas of the central nervous system (CNS). The most common presentation in patients with CNS sarcoidosis is seizures. Our patient presented with a large frontal lobe mass bridging the corpus callosum, which was initially diagnosed as a glioblastoma. Only 10% of neurosarcoidosis cases present with an isolated neurological symptom such as seizures. Additionally, sarcoidosis in the CNS has a predilection for the base of the brain, hypothalamus and pituitary gland, which is inconsistent with our patient’s presentation. A diagnosis of neurosarcoidosis is made by demonstrating evidence of systemic sarcoidosis and excluding other etiologies of neurologic disease. In our case, the presence of a frontal lobe mass crossing the midline was concerning for a primary brain prompting a brain biopsy. The presence of diffuse lymphadenopathy raised the concern for infectious etiologies, for which the patient underwent EBUS sampling. The demonstration of granulomatous inflammation in both sites, and the exclusion of infectious etiologies, clinched the diagnosis of sarcoidosis.
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