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Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2

  • Claudia SantoroEmail author
  • Federica Palladino
  • Pia Bernardo
  • Giuseppe Cinalli
  • Giuseppe Mirone
  • Teresa Giugliano
  • Giulio Piluso
  • Silverio Perrotta
Letter to the Editor

Letter to Editor

Recently, Lascelles et al. reported on three children with neurofibromatosis type 2 (NF2) and intracerebral vasculopathy and/or ischemic strokes [1]. In our opinion, this report is particularly relevant given that our understanding of features in pediatric patients with NF2 continues to develop as more such reports are published.

NF2 is a rare disorder due to heterozygous mutations in the homonymous gene. Affected patients develop bilateral acoustic schwannomas and are prone to develop central and peripheral meningiomas, ependymomas, and neurinomas. They often present ophthalmological and dermatological findings, some of which are congenital.

Herein, we report an additional case of vasculopathy in a young boy with NF2, caused by an unreported intragenic duplication of NF2. He presented at 11.5 years of age with bilateral scotoma and papilledema in the left eye related to a meningoendothelial meningioma of the left middle cranial fossa. After subtotal removal of the...

Notes

Acknowledgements

We are profoundly grateful to the patient and his parents for their collaboration and consent to publish.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from patient’s parents.

References

  1. 1.
    Lascelles K, Afridi S, Siddiqui A, Hemingway C, Ferner R, Ganesan V (2018) Cerebral vasculopathy in childhood neurofibromatosis type 2: cause for concern? Dev Med Child Neurol 60:1285–1288.  https://doi.org/10.1111/dmcn13920 CrossRefPubMedGoogle Scholar
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    Morris KA, Golding JF, Axon PR, Afridi S, Blesing C, Ferner RE, Halliday D, Jena R, Pretorius PM, Evans DG, McCabe M, Parry A, UK NF2 Research group (2016) Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation. Neurooncol Pract 3(4):281–289PubMedPubMedCentralGoogle Scholar
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    Wong HK, Shimizu A, Kirkpatrick ND, Garkavtsev I, Chan AW, di Tomaso E, Klagsbrun M, Jain RK (2012) Merlin/NF2 regulates angiogenesis in schwannomas through a Rac1/semaphorin 3F-dependent mechanism. Neoplasia 14(2):84–94CrossRefGoogle Scholar
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    Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG (2010) Further genotype--phenotype correlations in neurofibromatosis 2. Clin Genet 77(2):163–170CrossRefGoogle Scholar

Copyright information

© Fondazione Società Italiana di Neurologia 2019

Authors and Affiliations

  1. 1.Referral Centre of Neurofibromatosis, Department of Woman and Child, Specialistic and General SurgeryUniversità degli Studi della Campania “Luigi Vanvitelli”NaplesItaly
  2. 2.Department of Pediatric NeurosciencesSantobono-Pausilipon Children’s HospitalNaplesItaly
  3. 3.Department of Pediatric NeurosurgerySantobono-Pausilipon Children’s HospitalNaplesItaly
  4. 4.Department of Precision MedicineUniversità degli Studi della Campania “Luigi Vanvitelli”NaplesItaly

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