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Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome

Bharat Patil1, Gautam Sinha1, Bhagabat Nayak1

  • 1Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi 110029, India.

Case Reports in Ophthalmological Medicine
|June 12, 2015
PubMed

Insights

This case report details a rare instance of Sturge-Weber syndrome and Phakomatosis pigmentovascularis in a child, complicated by secondary glaucoma. Effective management involved controlling intraocular pressure and addressing skin lesions.

Area of Science:

  • Ophthalmology
  • Dermatology
  • Genetics

Background:

  • Sturge-Weber syndrome and Phakomatosis pigmentovascularis are rare congenital disorders.
  • Their co-occurrence presents unique diagnostic and management challenges.

Purpose of the Study:

  • To report a rare case of coexisting bilateral Sturge-Weber syndrome and Phakomatosis pigmentovascularis in a pediatric patient.
  • To highlight the association with secondary glaucoma and discuss management strategies.

Main Methods:

  • Case presentation of a 4-year-old male with bilateral ocular and cutaneous manifestations.
  • Evaluation included intraocular pressure measurement, fundus examination, and CT scan of the head.
  • Management involved topical antiglaucoma medications and consideration for Pulsed Dye Laser therapy for skin lesions.

Main Results:

  • The patient presented with elevated intraocular pressure (IOP) of 36 mmHg in the right eye and 28 mmHg in the left eye.
  • Ocular findings included melanosis bulbi, diffuse choroidal hemangiomas, and glaucomatous cupping.
  • Cutaneous findings included nevus flammeus and nevus fuscocaeruleus, with CT revealing left-sided cerebral atrophy.

Conclusions:

  • The simultaneous occurrence of these phakomatoses with secondary glaucoma is exceptionally rare.
  • Integrated management targeting both dermatological and ophthalmological conditions is crucial for optimal patient outcomes.
Abstract

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