|LETTER TO THE EDITOR
|Year : 2015 | Volume
| Issue : 1 | Page : 78-79
Bilateral Sturge-Weber syndrome presenting with early onset convulsion and high myopia
Kanchan Kumar Mondal1, Sabyasachi Bandyopadhyay1, Indrani Bhattacharjee2, Sanat Kumar Ghosh2
1 Department of Ophthalmology, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India
2 Department of Pediatrics, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India
|Date of Web Publication||23-Jan-2015|
Assistant professor, Department of Ophthalmology, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata - 700 004, West Bengal
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Mondal KK, Bandyopadhyay S, Bhattacharjee I, Ghosh SK. Bilateral Sturge-Weber syndrome presenting with early onset convulsion and high myopia. Oman J Ophthalmol 2015;8:78-9
|How to cite this URL:|
Mondal KK, Bandyopadhyay S, Bhattacharjee I, Ghosh SK. Bilateral Sturge-Weber syndrome presenting with early onset convulsion and high myopia. Oman J Ophthalmol [serial online] 2015 [cited 2020 Feb 24];8:78-9. Available from: http://www.ojoonline.org/text.asp?2015/8/1/78/149904
In response to the article published in Oman Journal of Ophthalmology, Vol. 7, No. 1, 2014 titled "a rare presentation of bilateral Sturge- Weber syndrome More Details More Details" by Nema et al. we would like to report a rare case of Sturge-Weber syndrome with bilateral facial port-wine stain, right sided leptomeningeal angiomatosis and bilateral high myopia presenting with epilepsy at the age of only 4 months. Sturge-Weber syndrome is bilateral in only 10-20% of cases and the prevalence is approximately 1 in 50,000 live births.  The syndrome is associated with epilepsy in 75-90% of cases and the age of onset has been recorded from birth to 23 years (median age of 6 months).  Decreased cerebral blood flow due to leptomeningeal angiomatosis, reduced venous return, focal hypoxia and decreased neuronal metabolism have been attributed for the causation of epilepsy and progressive mental retardation.  In 60% of cases the seizures are resistant to medical treatment and ultimately may require neurosurgical procedures of lobectomy or hemispherectomy.  Glaucoma, which occurs in 30-70% of patients  has bimodal presentation, 60% being congenital occur in infancy and 40% occur in older children and early adulthood.  The choroidal hemangioma is another ophthalmic association and has honeycomb pattern, usually non-pigmented and on transillumination appear lighter than the surrounding region. 
On March 2013, a 4-month-old female baby attended at our Tertiary Care Hospital at Kolkata with partial convulsion of the left side of the body since morning. Intravenous fluids, anticonvulsants (intravenous phenytoin and phenobarbitone) and antibiotics (intravenous ceftriaxone and amoxicillin + clavulanic acid for 5 days) were administered. The convulsions were controlled and after 1 week of stabilization she was switched over to oral phenytoin and phenobarbitone.
The baby was born to non-consanguineous parents at normal term home delivery. There was red port-wine stain bilaterally over the forehead and over a large part of the right side of the face crossing the midline to part of the left side of the face and also extending into the chest [Figure 1]. Sensorium was normal after brief postictal phase and the child could communicate with her mother. On ocular examination, under general anesthesia, the horizontal corneal diameter of both the eyes was 12.5 mm and the vertical corneal diameter of both the eyes was 12 mm, which was large for a 4-month-old baby [Figure 2]. Schiotz tonometry reading was 15.6 mm Hg in right eye and 17.3 mm Hg in left eye. The retinoscopy under atropine revealed myopia in both the eyes (−7.5 Diopter spherical in right eye and −7.00 Diopter spherical in left eye). On indirect ophthalmoscopy, the optic disc (cup disc ratio was 0.3 in both eyes), retina and choroid were normal on both eyes. The computerized axial tomography of the brain showed dense gyriform calcification of the right parieto-occipital cortex indicating leptomeningeal involvement [Figure 3]. The epileptic attack resolved to conventional medication, but again recurred at the age of 1 year and 3 months. There are future risks of similar attacks and mental retardation. The baby had high myopia in both the eyes, which had been reported earlier in the literature.  Owing to large corneal diameters compared with the age of the baby and presence of myopia the case was being suspicious of congenital glaucoma but as the intraocular pressures were normal it was decided to withhold treatment. A regular follow-up is needed to detect the possible development of glaucoma in late childhood or early adulthood and probable neurological complications, including mental retardation.
|Figure 1: Clinical photograph of the 4-month-old baby showing bilateral distribution of portwine stain|
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|Figure 2: Clinical photograph showing corneal diameter measurement (in both the eyes horizontal and vertical corneal diameter was 12.5 mm and 12 mm respectively) with caliper under general anesthesia|
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|Figure 3: The computerized axial tomography of the brain showing gyriform calcification of the right parieto-occipital cortex|
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| References|| |
Nema N, Jain J, Porwal V. A rare presentation of bilateral Sturge-Weber syndrome. Oman J Ophthalmol 2014;7:46-8.
Di Rocco C, Tamburrini G. Sturge-Weber syndrome. Childs Nerv Syst 2006;22:909-21.
Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995;57:35-45.
Reid DE, Maria BL, Drane WE, Quisling RG, Hoang KB. Central nervous system perfusion and metabolism abnormalities in Sturge-Weber syndrome. J Child Neurol 1997;12:218-22.
Kossoff EH, Buck C, Freeman JM. Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology 2002;59:1735-8.
Sujansky E, Conradi S. Sturge-Weber syndrome: Age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995;10:49-58.
[Figure 1], [Figure 2], [Figure 3]