Intramedullary Thoracic Spine Astrocytoma Presenting as Hydrocephalus in an Infant: A Case Report

Rangwala, Shivani D; Oh, Gerald; Barks, Ashley L; Nikas, Demetrios C.

doi:10.1159/000479323

Cited by 6 publications

(2 citation statements)

References 14 publications

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“…It is observed that there is no obvious obstructive pathology on neuroimaging in such cases of hydrocephalus and spinal tumor. 4,5,6 CSF examination of these patients showed a high concentration of proteins which can be the cause of hydrocephalus. [7][8] The presentation of hydrocephalus in these patients is usually covert.…”

Section: Introductionmentioning

confidence: 90%

11 Years Old Female with Synergistic Presentation of Cranial and Spinal Pathologies: Myxopapillary Ependymoma with Hydrocephalus - A Rare Entity

Kamboh¹,

Manzoor²,

Ashraf³

et al. 2022

Pak J Neurol Surg

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The correlation between hydrocephalus and spinal cord tumor was first described by Kyrieleis et. al. 1% concomitant presence was documented by Mirroni et.al. Moreover, the understanding of the pathophysiological association between these two conditions is still lacking. 11 years old girl presented in the outpatient department of Jinnah hospital Lahore with complaints of difficulty in walking for the last 2 years, numbness of right leg for the last one year, and severe bilateral sciatica for 2 months. On further inquiry, she told that she is also suffering from headaches and blurred vision for the last 6 months. Her neuroimaging revealed hydrocephalus and mixed density heterogeneously enhancing intradural lesion at the conus. She underwent ventriculoperitoneal shunting for hydrocephalus and laminoplasty followed by excision of spinal tumor reported being myxopapillary ependymoma grade II. The presence of headache along with signs & symptoms of raised intracranial pressure in these patients warrant cranial imaging. CSF diversion for hydrocephalus and gross total excision of the spinal lesion is the standard acceptable treatment.

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Section: Introductionmentioning

confidence: 90%

11 Years Old Female with Synergistic Presentation of Cranial and Spinal Pathologies: Myxopapillary Ependymoma with Hydrocephalus - A Rare Entity

Kamboh¹,

Manzoor²,

Ashraf³

et al. 2022

Pak J Neurol Surg

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“…Primary spinal PA requires surgical resection similar to other intramedullary spinal tumors (7), but there is no clear evidence that adjuvant radio-and/or chemo-therapy treatments after surgery might be necessary. To date, only a few spinal cord PA, either case reports or sporadic ones, have been described in their genetic and molecular characteristic signatures (8)(9)(10)(11)(12)(13). The most recurrent genetic alterations in WHO Grade I spinal cord astrocytomas are BRAF-KIAA1549 translocation, BRAF copy number gain and the BRAFV600E single nucleotide variation.…”

mentioning

confidence: 99%

The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma

Martinelli

Gabriele

Manai

et al. 2020

Cancer Genomics Proteomics

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Background/Aim: We herein presented a case of pediatric spinal cord pilocytic astrocytoma diagnosed on the basis of histopathological and clinical findings. Materials and Methods: Given the paucity of data on genetic features for this tumor, we performed exome, array CGH and RNA sequencing analysis from nucleic acids isolated from a unique and not repeatable very small amount of a formalinfixed, paraffin-embedded (FFPE) specimen. Results: DNA mutation analysis, comparing tumor and normal lymphocyte peripheral DNA, evidenced few tumor-specific single nucleotide variants in DEFB119, MUC5B, NUDT1, LTBP3 and CPSF3L genes. Differently, tumor DNA was not characterized by for the main pilocytic astrocytoma gene variations, including BRAFV600E. An inframe trinucleotides insertion involving DLX6 or lnc DLX6-AS1 genes was scored in 44.9% of sequenced reads; the temporal profile of this variation on the expression of DLX-AS1 was investigated in patient`s urine-derived exosomes, reporting no significant variation in the one-year molecular follow-up. Array CGH identified a tumor microdeletion at the 6q25.3 chromosomal region, spanning 1,01 Mb and comprising ZDHHC14, SNX9, TULP4 and SYTL3 genes. The expression of these genes did not change in urine-derived exosomes during the one-year investigation period. Finally, RNAseq did not reveal any of the common pilocytic BRAF-KIAA1549 genes fusion events. Conclusion: To our knowledge, the present report is one of the first described gene-orphan case studies of a pediatric spinal cord pilocytic astrocytoma.

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Pathophysiology and Treatment of Hydrocephalus Associated with Spinal Tumors

Imperato¹,

Ferrara²,

Spennato³

et al. 2019

Pediatric Hydrocephalus

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Intramedullary Thoracic Spine Astrocytoma Presenting as Hydrocephalus in an Infant: A Case Report

Cited by 6 publications

References 14 publications

11 Years Old Female with Synergistic Presentation of Cranial and Spinal Pathologies: Myxopapillary Ependymoma with Hydrocephalus - A Rare Entity

11 Years Old Female with Synergistic Presentation of Cranial and Spinal Pathologies: Myxopapillary Ependymoma with Hydrocephalus - A Rare Entity

The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma

Pathophysiology and Treatment of Hydrocephalus Associated with Spinal Tumors

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