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Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement Kundan Mittal, Jaya Shankar Kaushik, Gurpreet Kaur, Mohd Aamir, Suvasini Sharma1 Departments of Pediatrics, Pandit Bhagwat Dayal Sharma Postgraduate Insititute of Medical Sciences, Rohtak, Haryana, 1Pediatrics, Lady Hardinge Medical College, New Delhi, India Abstract The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.
Key Words Megalencephaly, port wine stain, Sturge Weber syndrome For correspondence: Dr. Jaya Shankar Kaushik, Department of Pediatrics, Pandit Bhagwat Dayal Sharma Postgraduate Insititute of Medical
Sciences, Rohtak, Haryana - 124 001, India. E-mail: [email protected] Ann Indian Acad Neurol 2014;17:207-8
Images in Neurology A 2-year-old developmentally normal right-handed male child presented with multiple episodes of generalized seizures. On examination, he was observed to have large head (>97th centile) and bilateral dark-pigmented portwine stain over face, trunk, back, and arms [Figure 1]. There was no ocular evidence of glaucoma and there were no neurological deficits on examination with rest of the systemic examination being unremarkable. Magnetic resonance imaging brain [1.5 Tesla] [T1-weighted image] showed bilateral parietooccipital leptomeningeal enhancement along with hyperintensity in bilateral cortical sulci [Figure 2]. The Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement with an estimated incidence of 1 in 50,000 live birth.[1] Bilateral skin lesions occur in 20%
cases, while bilateral cortical involvement has been reported in about 15% of cases and those with bilateral cortical lesions are associated with earlier onset seizure and poor neurodevelopmental outcome.[2,3] We present an unusual bilateral SWS with late onset seizure and relatively good intellectual outcome. Most specific finding in SWS is leptomeningeal enhancement. Other neuroimaging findings include gyriform calcification, atrophy of ipsilateral hemisphere with ipsilateral choroid plexus enlargement.[4] These findings are consistent with the present case but with bilateral representation. The existing literature has not laid emphasis on the association of macrocephaly with SWS. There was a case report of an infant with a Sturge-Weber variant syndrome who developed progressive megalencephaly
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Website: www.annalsofian.org
DOI: 10.4103/0972-2327.132633
Figure 1: Figure depicts portwine staining in both sides of face and trunk Annals of Indian Academy of Neurology, April-June 2014, Vol 17, Issue 2
208
Mittal, et al.: Megalencephaly with bilateral lesions in Sturge-Weber syndrome
to ensure prolonged follow-up of children with bilateral SWS. The present case report highlights unusual presentation of SWS which includes presence of bilateral portwine nevus on trunk and face, bilateral leptomeningeal enhancement, late onset seizures, normal development, and progressive megalencephaly.
References 1. 2.
3.
Figure 2: (a and b) Axial and coronal contrast-enhanced T1-weighted magnetic resonance image shows marked gyriform enhancement in the bilateral temporooccipital lobe with more marked involvement on left side
and eventual hydrocephalus, which required shunting possibly owing to impaired venous return.[5] Although the development of our child was normal till age of 2 year and the seizures were well-controlled, we believe that further follow-up could reveal some subtle intellectual deterioration or evolution of epilepsy as is expected in children with bilateral SWS. Particular care must be exercised
Annals of Indian Academy of Neurology, April-June 2014, Vol 17, Issue 2
4.
5.
Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: A review. Pediatr Neurol 2004;30:303-10. Bodensteiner JB, Roach ES. Overview of Sturge-Weber syndrome. In: Roach E, Bodensteiner J, editors. Sturge-Weber Syndrome. New Jersey: The Sturge-Weber Foundation; Mt. Freedom; 2010. p. 19-32. Bálint A, Chugani HT, Karia S, Behen ME, Juhász C. Clinical outcome in bilateral Sturge Weber syndrome. Pediatr Neurol 2011;44:443-9. Nakata Y, Yagishita A, Tsuchiya K. Imaging of Sturge-Weber syndrome: Cranial CT and MR findings. Nihon Igaku Hoshasen Gakkai Zasshi 2004;64:210-5. Fishman MA, Baram TZ. Megalencephaly due to impaired cerebral venous return in a sturge-weber variant syndrome. J Child Neurol 1986;1:115-8.
How to cite this article: Mittal K, Kaushik JS, Kaur G, Aamir M, Sharma S. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. Ann Indian Acad Neurol 2014;17:207-8. Received: 29-6-13, Revised: 6-10-13, Accepted: 3-12-13 Source of Support: Nil, Conflict of Interest: Nil
Copyright of Annals of Indian Academy of Neurology is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement Kundan Mittal, Jaya Shankar Kaushik, Gurpreet Kaur, Mohd Aamir, Suvasini Sharma1 Departments of Pediatrics, Pandit Bhagwat Dayal Sharma Postgraduate Insititute of Medical Sciences, Rohtak, Haryana, 1Pediatrics, Lady Hardinge Medical College, New Delhi, India Abstract The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.
Key Words Megalencephaly, port wine stain, Sturge Weber syndrome For correspondence: Dr. Jaya Shankar Kaushik, Department of Pediatrics, Pandit Bhagwat Dayal Sharma Postgraduate Insititute of Medical
Sciences, Rohtak, Haryana - 124 001, India. E-mail: [email protected] Ann Indian Acad Neurol 2014;17:207-8
Images in Neurology A 2-year-old developmentally normal right-handed male child presented with multiple episodes of generalized seizures. On examination, he was observed to have large head (>97th centile) and bilateral dark-pigmented portwine stain over face, trunk, back, and arms [Figure 1]. There was no ocular evidence of glaucoma and there were no neurological deficits on examination with rest of the systemic examination being unremarkable. Magnetic resonance imaging brain [1.5 Tesla] [T1-weighted image] showed bilateral parietooccipital leptomeningeal enhancement along with hyperintensity in bilateral cortical sulci [Figure 2]. The Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement with an estimated incidence of 1 in 50,000 live birth.[1] Bilateral skin lesions occur in 20%
cases, while bilateral cortical involvement has been reported in about 15% of cases and those with bilateral cortical lesions are associated with earlier onset seizure and poor neurodevelopmental outcome.[2,3] We present an unusual bilateral SWS with late onset seizure and relatively good intellectual outcome. Most specific finding in SWS is leptomeningeal enhancement. Other neuroimaging findings include gyriform calcification, atrophy of ipsilateral hemisphere with ipsilateral choroid plexus enlargement.[4] These findings are consistent with the present case but with bilateral representation. The existing literature has not laid emphasis on the association of macrocephaly with SWS. There was a case report of an infant with a Sturge-Weber variant syndrome who developed progressive megalencephaly
Access this article online Quick Response Code:
Website: www.annalsofian.org
DOI: 10.4103/0972-2327.132633
Figure 1: Figure depicts portwine staining in both sides of face and trunk Annals of Indian Academy of Neurology, April-June 2014, Vol 17, Issue 2
208
Mittal, et al.: Megalencephaly with bilateral lesions in Sturge-Weber syndrome
to ensure prolonged follow-up of children with bilateral SWS. The present case report highlights unusual presentation of SWS which includes presence of bilateral portwine nevus on trunk and face, bilateral leptomeningeal enhancement, late onset seizures, normal development, and progressive megalencephaly.
References 1. 2.
3.
Figure 2: (a and b) Axial and coronal contrast-enhanced T1-weighted magnetic resonance image shows marked gyriform enhancement in the bilateral temporooccipital lobe with more marked involvement on left side
and eventual hydrocephalus, which required shunting possibly owing to impaired venous return.[5] Although the development of our child was normal till age of 2 year and the seizures were well-controlled, we believe that further follow-up could reveal some subtle intellectual deterioration or evolution of epilepsy as is expected in children with bilateral SWS. Particular care must be exercised
Annals of Indian Academy of Neurology, April-June 2014, Vol 17, Issue 2
4.
5.
Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: A review. Pediatr Neurol 2004;30:303-10. Bodensteiner JB, Roach ES. Overview of Sturge-Weber syndrome. In: Roach E, Bodensteiner J, editors. Sturge-Weber Syndrome. New Jersey: The Sturge-Weber Foundation; Mt. Freedom; 2010. p. 19-32. Bálint A, Chugani HT, Karia S, Behen ME, Juhász C. Clinical outcome in bilateral Sturge Weber syndrome. Pediatr Neurol 2011;44:443-9. Nakata Y, Yagishita A, Tsuchiya K. Imaging of Sturge-Weber syndrome: Cranial CT and MR findings. Nihon Igaku Hoshasen Gakkai Zasshi 2004;64:210-5. Fishman MA, Baram TZ. Megalencephaly due to impaired cerebral venous return in a sturge-weber variant syndrome. J Child Neurol 1986;1:115-8.
How to cite this article: Mittal K, Kaushik JS, Kaur G, Aamir M, Sharma S. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. Ann Indian Acad Neurol 2014;17:207-8. Received: 29-6-13, Revised: 6-10-13, Accepted: 3-12-13 Source of Support: Nil, Conflict of Interest: Nil
Copyright of Annals of Indian Academy of Neurology is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
