Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult

Case report

Sanjay Konakondla, Mayur Jayarao, Jami Skrade, Caterina Giannini, Michael J. Workman, Chad J. Morgan

Research output: Contribution to journalArticle

Abstract

Introduction The well-described entity of Subependymal Giant Cell Astrocytoma (SEGA) in the setting of Tuberous Sclerosis Complex (TSC) is profound in current literature. It has been described in children as well as adults with or without identifiable clinical presentations of tuberous sclerosis. To our knowledge there has not been any report of a negative genetic workup of Tuberous Sclerosis Complex in an adult patient presenting with an isolated SEGA. Case report We present a case of a 25-year-old female with no medical history who presented to the emergency room for headaches. Further workup included gadolinium enhanced MRI of the brain which revealed a homogenously enhancing mass in the left lateral ventricle with eccentric calcification and resultant obstructive hydrocephalus. A left frontal craniotomy with an interhemispheric transcallosal approach was taken for complete removal of the mass. Discussion Final pathological diagnosis was SEGA with suggestive cell population, positive GFAP and positive synaptophysin. Genetic testing included TSC1 (MLPA, DNA Sequencing) and TSC2 (MLPA, DNA Sequencing), which were all negative. The panel did not identify mutations associated with Tuberous Sclerosis. Conclusion Rare cases of isolated SEGA have been reported in patients who do not have typical features of tuberous sclerosis, and may represent minimal penetrance of the disease with an attenuated phenotype. Negative genetic testing, as demonstrated, can be seen in adults with isolated SEGA. With a negative genetic workup of TSC, regular follow up may still be necessary; however this may prove to be low yield for identifying any TSC features in the future.

Original languageEnglish (US)
Pages (from-to)177-180
Number of pages4
JournalClinical Neurology and Neurosurgery
Volume150
DOIs
StatePublished - Nov 1 2016

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Tuberous Sclerosis
Astrocytoma
Genetic Testing
DNA Sequence Analysis
Synaptophysin
Penetrance
Craniotomy
Lateral Ventricles
Gadolinium
Hydrocephalus
Heart Ventricles
Headache
Hospital Emergency Service
Phenotype
Mutation
Brain
Population

Keywords

  • SEGA
  • Subependymal giant cell astrocytoma
  • TSC
  • Tuberous sclerosis complex

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology

Cite this

Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult : Case report. / Konakondla, Sanjay; Jayarao, Mayur; Skrade, Jami; Giannini, Caterina; Workman, Michael J.; Morgan, Chad J.

In: Clinical Neurology and Neurosurgery, Vol. 150, 01.11.2016, p. 177-180.

Research output: Contribution to journalArticle

Konakondla, Sanjay ; Jayarao, Mayur ; Skrade, Jami ; Giannini, Caterina ; Workman, Michael J. ; Morgan, Chad J. / Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult : Case report. In: Clinical Neurology and Neurosurgery. 2016 ; Vol. 150. pp. 177-180.
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