Sturge Weber Syndrome – Roach’s Type II Variant
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...
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Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)
2020-10-01
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| Series: | Nepal Journal of Dermatology, Venereology & Leprology |
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| Online Access: | https://nepjol.info/index.php/NJDVL/article/view/30316 |
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| _version_ | 1849226735072051200 |
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| author | Muna Bista Sudha Agrawal Sweta Taparia |
| author_facet | Muna Bista Sudha Agrawal Sweta Taparia |
| author_sort | Muna Bista |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-999fd5a82b864c2cbe4e8588e25ac33f |
| institution | Kabale University |
| issn | 2091-0231 2091-167X |
| language | English |
| publishDate | 2020-10-01 |
| publisher | Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON) |
| record_format | Article |
| series | Nepal Journal of Dermatology, Venereology & Leprology |
| spelling | doaj-art-999fd5a82b864c2cbe4e8588e25ac33f2025-08-24T10:06:09ZengSociety of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)Nepal Journal of Dermatology, Venereology & Leprology2091-02312091-167X2020-10-01181Sturge Weber Syndrome – Roach’s Type II VariantMuna Bista0Sudha Agrawal1Sweta Taparia2B.P. Koirala Institute of Health SciencesB.P. Koirala Institute of Health Sciences, DharanTaparia Eye Care Pvt Ltd, Biratnagar 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. https://nepjol.info/index.php/NJDVL/article/view/30316Neural TubeNeurocutaneous SyndromesPort-Wine StainSturge-Weber Syndrome |
| spellingShingle | Muna Bista Sudha Agrawal Sweta Taparia Sturge Weber Syndrome – Roach’s Type II Variant Nepal Journal of Dermatology, Venereology & Leprology Neural Tube Neurocutaneous Syndromes Port-Wine Stain Sturge-Weber Syndrome |
| title | Sturge Weber Syndrome – Roach’s Type II Variant |
| title_full | Sturge Weber Syndrome – Roach’s Type II Variant |
| title_fullStr | Sturge Weber Syndrome – Roach’s Type II Variant |
| title_full_unstemmed | Sturge Weber Syndrome – Roach’s Type II Variant |
| title_short | Sturge Weber Syndrome – Roach’s Type II Variant |
| title_sort | sturge weber syndrome roach s type ii variant |
| topic | Neural Tube Neurocutaneous Syndromes Port-Wine Stain Sturge-Weber Syndrome |
| url | https://nepjol.info/index.php/NJDVL/article/view/30316 |
| work_keys_str_mv | AT munabista sturgewebersyndromeroachstypeiivariant AT sudhaagrawal sturgewebersyndromeroachstypeiivariant AT swetataparia sturgewebersyndromeroachstypeiivariant |