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The Indian Journal of Pediatrics

, Volume 85, Issue 8, pp 703–704 | Cite as

A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1

  • Vykuntaraju K. Gowda
  • Varunvenkat M. Srinivasan
  • Sahana M. Srinivas
  • Harsha Chadaga
Scientific Letter

To the Editor: Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome characterized by cutaneous neurofibromas, café au lait spots, axillary/ inguinal freckling and Lisch nodules with various systemic involvement [1]. Sturge Weber syndrome (SWS) is a rare neuro-oculo-cutaneous syndrome characterized by: hemiplegia, glaucoma and vascular malformation of various segments of eye, dermal and port wine stain [2]. The combination of both NF1 and SWS occurring in an individual is rare and hence the entity is being reported.

A one year 10-mo-old boy born to a non consanguineous couple with normal birth and family history presented with left focal seizures and left sided weakness. On examination, the child had, multiple café au lait macules (more than 16 macules of larger than 15 mm size), inguinal and axillary freckling, and port wine stain on right forehead (Fig. 1). There was choroidal hemangioma in right eye with normal intraocular pressure and decreased power in left upper and lower...

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

References

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    Awad AH, Mullaney PB, Al-Mesfer S, Zwaan JT. Glaucoma in Sturge Weber syndrome. J AAPOS. 1999;3:40–5.CrossRefPubMedGoogle Scholar
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    Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278:51–7.CrossRefPubMedGoogle Scholar
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    Rodríguez-Bujaldón AL, Vázquez-Bayo C, Jiménez-Puya RJ, Moreno-Giménez JC. Sturge weber syndrome and type 1 neurofibromatosis: a chance association? Actas Dermosifiliogr. 2008;99:313–4.CrossRefPubMedGoogle Scholar
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    Srivastava K, Kalyan P, Oswal JS, Lalwani S. A rare association of neurofibromatosis type 1 with Sturge-weber syndrome. J Pediatr Neurol. 2013;11:111–3.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  • Vykuntaraju K. Gowda
    • 1
    • 2
  • Varunvenkat M. Srinivasan
    • 3
  • Sahana M. Srinivas
    • 4
  • Harsha Chadaga
    • 5
  1. 1.Department of Pediatric NeurologyIndira Gandhi Institute of Child HealthBangaloreIndia
  2. 2.Bangalore Child Neurology and Rehabilitation CenterBangaloreIndia
  3. 3.Department of PediatricsIndira Gandhi Institute of Child HealthBangaloreIndia
  4. 4.Department of Pediatric DermatologyIndira Gandhi Institute of Child HealthBangaloreIndia
  5. 5.Columbia Asia Radiology GroupBangaloreIndia

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