Midline Facial Defects with Hypertelorism and Low-Grade Astrocytoma: A Previously Undescribed Association

2006 ◽  
Vol 43 (6) ◽  
pp. 748-751 ◽  
Author(s):  
Silvyo David Araújo Giffoni ◽  
Fernando Cendes ◽  
Marcelo Valente ◽  
Vera Lucia Gil-da-Silva-Lopes

We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.

2021 ◽  
Author(s):  
Yan Zhang ◽  
Dongmei Zou ◽  
Jingjing Yin ◽  
Li Zhang ◽  
Xiao Zhang ◽  
...  

Abstract Backgroud: Establishing diagnostic and prognostic biomarkers of primary central nervous system lymphoma (PCNSL) is a challenge. This study evaluated the value of dynamic interleukin (IL)-10 cerebrospinal fluid (CSF) concentrations for prognosis and relapse prediction in PCNSL. Methods: Consecutive 40 patients newly diagnosed with PCNSL between April 2015 and April 2019 were recruited, and serial CSF specimens were collected by lumbar punctures (LP) or by Ommaya reservoir at diagnosis, treatment, and follow-up phase.Results: We confirmed that an elevated IL-10 cutoff value of 8.2 pg/mL for the diagnosis value of PCNSL showed a sensitivity of 85%. A persistent detectable CSF IL-10 level at the end of treatment was associated with poor progression-free survival (PFS) (836 vs. 481 days, p = 0.049). Within a median follow-up of 13.6 (2–55) months, 24 patients relapsed. IL-10 relapse was defined as a positive conversion in patients with undetectable IL-10 or an increased concentration compared to the last test in patients with sustained IL-10. IL-10 relapse was detected a median of 67 days (28–402 days) earlier than disease relapse in 10/16 patients. Conclusion: This study highlights a new perspective that CSF IL-10 relapse could be a surrogate marker for disease relapse and detected earlier than conventional magnetic resonance imaging (MRI) scan. Further evaluation of IL-10 monitoring in PCNSL follow-up is warranted.


2016 ◽  
Vol 4 ◽  
pp. 2050313X1666623 ◽  
Author(s):  
Satiro Nakamura De Oliveira ◽  
Ignacio Gonzalez-Gomez ◽  
Ashok Panigrahy ◽  
Mark Krieger ◽  
Gordon McComb ◽  
...  

2020 ◽  
Author(s):  
Yan Zhang ◽  
Dongmei Zou ◽  
Jingjing Yin ◽  
Li Zhang ◽  
Xiao Zhang ◽  
...  

Abstract Backgroud: Establishing diagnostic and prognostic biomarkers of primary central nervous system lymphoma (PCNSL) is a challenge. This study evaluated the value of dynamic interleukin (IL)-10 cerebrospinal fluid (CSF) concentrations for prognosis and relapse prediction in PCNSL. Methods: Consecutive 40 patients newly diagnosed with PCNSL between April 2015 and April 2019 were recruited, and serial CSF specimens were collected by lumbar punctures (LP) or by Ommaya reservoir at diagnosis, treatment, and follow-up phase.Results: We confirmed that an elevated IL-10 cutoff value of 8.2 pg/mL for the diagnosis value of PCNSL showed a sensitivity of 85%. A persistent detectable CSF IL-10 level at the end of treatment was associated with poor progression-free survival (PFS) (836 vs. 481 days, p = 0.049). Within a median follow-up of 13.6 (2–55) months, 24 patients relapsed. IL-10 relapse was defined as a positive conversion in patients with undetectable IL-10 or an increased concentration compared to the last test in patients with sustained IL-10. IL-10 relapse was detected a median of 67 days (28–402 days) earlier than disease relapse in 10/16 patients. Conclusion: This study highlights a new perspective that CSF IL-10 relapse could be a surrogate marker for disease relapse and detected earlier than conventional magnetic resonance imaging (MRI) scan. Further evaluation of IL-10 monitoring in PCNSL follow-up is warranted.


2015 ◽  
Vol 21 (13) ◽  
pp. 1742-1745 ◽  
Author(s):  
Silvia Miante ◽  
Paola Perini ◽  
Francesca Rinaldi ◽  
Paolo Gallo

The case of a 37-year-old woman suffering from a relapsing–remitting tumefactive inflammatory disease of the central nervous system (CNS) is described. The patient had four severe relapses over eight years, and was treated with steroids, immunosuppression and plasma-exchange with modest benefit. No magnetic resonance imaging or cerebrospinal spinal fluid findings suggestive of multiple sclerosis emerged during the eight-year follow-up. ‘Relapsing–remitting tumefactive inflammation’ seems to have the features of a distinct inflammatory CNS disease.


BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yan Zhang ◽  
Dongmei Zou ◽  
Jingjing Yin ◽  
Li Zhang ◽  
Xiao Zhang ◽  
...  

Abstract Backgroud Establishing diagnostic and prognostic biomarkers of primary central nervous system lymphoma (PCNSL) is a challenge. This study evaluated the value of dynamic interleukin (IL)-10 cerebrospinal fluid (CSF) concentrations for prognosis and relapse prediction in PCNSL. Methods Consecutive 40 patients newly diagnosed with PCNSL between April 2015 and April 2019 were recruited, and serial CSF specimens were collected by lumbar punctures (LP) or by Ommaya reservoir at diagnosis, treatment, and follow-up phase. Results We confirmed that an elevated IL-10 cutoff value of 8.2 pg/mL for the diagnosis value of PCNSL showed a sensitivity of 85%. A persistent detectable CSF IL-10 level at the end of treatment was associated with poor progression-free survival (PFS) (836 vs. 481 days, p = 0.049). Within a median follow-up of 13.6 (2–55) months, 24 patients relapsed. IL-10 relapse was defined as a positive conversion in patients with undetectable IL-10 or an increased concentration compared to the last test in patients with sustained IL-10. IL-10 relapse was detected a median of 67 days (28–402 days) earlier than disease relapse in 10/16 patients. Conclusion This study highlights a new perspective that CSF IL-10 relapse could be a surrogate marker for disease relapse and detected earlier than conventional magnetic resonance imaging (MRI) scan. Further evaluation of IL-10 monitoring in PCNSL follow-up is warranted.


2018 ◽  
Vol 128 (2) ◽  
pp. 157-161 ◽  
Author(s):  
Tara J. Wu ◽  
Sean M. Lewis ◽  
Peak Woo

Introduction: The presentation, course, and management of a rare laryngeal manifestation of neurosarcoidosis due to central nervous system (as opposed to peripheral nervous system) injury are described. Methods: The authors present 3 cases of vocal cord paralysis as the initial symptom of isolated neurosarcoidosis at a tertiary care laryngology clinic. Results: Laryngoscopy diagnosed unilateral vocal cord paralysis. Laryngeal electromyography revealed high vagal injury, prompting workup on brain magnetic resonance imaging. On magnetic resonance imaging, 2 cases showed basilar leptomeningeal inflammation and 1 case showed a brainstem mass. Patients were found at follow-up to have severe, progressive vagal injury, with patients developing severe quality of life impairments and medical complications. Conclusions: Neurosarcoidosis is not usually considered in the differential diagnosis of vocal cord paralysis. At initial presentation, all patients lacked other cranial neuropathies and systemic sarcoidosis manifestations, making diagnosis difficult. Otolaryngologists should be aware of this rare presentation, as prompt diagnosis by brain magnetic resonance imaging with or without central nervous system biopsy, as opposed to traditional chest radiography or computed tomography for the workup of peripheral nerve injury, is necessary. Serial laryngeal examinations are recommended for close monitoring of progressive disease and recommending treatment. Injection or medialization laryngoplasty can provide improvements in voicing but not swallow.


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