Sturge Weber Syndrome – Roach’s Type II Variant

Authors

  • Muna Bista B.P. Koirala Institute of Health Sciences
  • Sudha Agrawal B.P. Koirala Institute of Health Sciences, Dharan
  • Sweta Taparia Taparia Eye Care Pvt Ltd, Biratnagar

DOI:

https://doi.org/10.3126/njdvl.v18i1.30316

Keywords:

Neural Tube, Neurocutaneous Syndromes, Port-Wine Stain, Sturge-Weber Syndrome

Abstract

Sturge-Weber syndrome (SWS) is a neurocutaneous sporadic disorder caused by mutation in GNAQ gene responsible for persistence of vascular plexus around cephalic portion of neural tube. It has a wide spectrum of cutaneous, neurologic and ophthalmic manifestations, which may or may not be associated with one another. Roach scale has classified it into three types. Here, we present a case of Roach’s Type II variant of SWS with Port-wine stain (PWS) and ocular abnormalities without Central Nervous System (CNS) involvement. A 24 months old female presented with hemangioma involving the left side of face since birth. She had history of corneal edema and buphthalmos at two days of life. There was no history of seizure or developmental delay and Magnetic Resonance Imaging (MRI) of the head ruled out cranial hemangioma. Roach’s Type II is a rare variant of SWS and should be suspected in any case having PWS along the course of trigeminal nerve with congenital glaucoma because the neurologic involvement in a given case may vary from an absence to overt clinical manifestations with or without radiological changes. Due to its wide range of manifestations, a multidisciplinary approach is required for proper management of these patients.

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Author Biographies

Muna Bista, B.P. Koirala Institute of Health Sciences

Junior Resident, Department of Dermatology, Venereology and Leprology

Sudha Agrawal, B.P. Koirala Institute of Health Sciences, Dharan

Professor, Department of Dermatology, Venereology and Leprology

Sweta Taparia, Taparia Eye Care Pvt Ltd, Biratnagar

Senior consultant, Department of Ophthalmology

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Published

2020-10-08

How to Cite

Bista, M., Agrawal, S., & Taparia, S. (2020). Sturge Weber Syndrome – Roach’s Type II Variant. Nepal Journal of Dermatology, Venereology &Amp; Leprology, 18(1), 76–79. https://doi.org/10.3126/njdvl.v18i1.30316

Issue

Section

Case Reports