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CASE REPORT |
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Year : 2013 | Volume
: 2
| Issue : 3 | Page : 206-208 |
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Encephalotrigeminal angiomatosis
Kotyal B Mahendrappa, N Rashmi, S Mamatha
Department of Pediatrics, JSS Medical College and Hospital, JSS University, Mysore, Karnataka, India
Date of Web Publication | 25-Oct-2013 |
Correspondence Address: N Rashmi Department of Pediatrics, JSS Medical College, Hospital, Ramanuja Road, Agrahara, Mysore - 570 009, Karnataka India
Source of Support: None, Conflict of Interest: None | Check |
DOI: 10.4103/2278-344X.120593
Encephalotrigeminal angiomatosis, more commonly known as Sturge-Weber syndrome (SWS), is a rare disorder occurring sporadically with a frequency of 1:50,000. It is characterized by facial nevus, seizures, hemiparesis, intracranial calcification, and mental retardation. We report here a young infant presenting with port-wine stain of one side of the face and transient hemiparesis (stroke-like episode) of the opposite side, seizures, and intracranial calcification, suggesting the diagnosis of SWS. The child reported here presented with a stroke-like event at a relatively young age, which is unusual. The baby was given supportive therapy. Keywords: Leptomeningeal angiomatosis, port-wine stain, stroke-like episode, seizure
How to cite this article: Mahendrappa KB, Rashmi N, Mamatha S. Encephalotrigeminal angiomatosis
. Int J Health Allied Sci 2013;2:206-8 |
Introduction | | |
Sturge-Weber syndrome (SWS), or encephalotrigeminal angiomatosis, is a rare, sporadic, congenital neurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation [nevus flammeus or port-wine stain (PWS)] usually associated with ipsilateral leptomeningeal angiomatosis, the prevalence being 1 per 50,000 live births. Both genders are equally affected with no racial difference. [1] We present here a young infant with hemiparesis of the left side and facial vascular malformation on the right side, and later developing seizures.
Case Report | | |
A 7-month-old girl born to a non-consanguineously married couple presented with history of sudden onset of paucity of movements of the left upper and lower limbs noticed since 3 days and fever and vomiting since 3 days. There was no history of convulsion. However, the baby was noticed to have a birthmark confined almost to the entire right half of the face. She had an uneventful perinatal history and normal development till date. There was no history of similar birthmarks or seizures or stroke in any other member of the family. On examination at admission, the baby was conscious and had no pallor or icterus or central cyanosis. Her vital parameters were normal, as also the anthropometric measurements. Head to toe examination revealed a typical port-wine stain (PWS) on the right half of the face [Figure 1]. There were no other neurocutaneous markers seen on the body. Skull and spine were normal. Central nervous system examination showed left-sided hemiparesis, with no cranial nerve involvement. Examination of the other systems was unremarkable. Eye examination done both at admission and discharge was normal; there was no evidence of glaucoma. Preliminary investigations like complete blood count, renal and liver function tests, tests for coagulation [prothrombin time (PT) and activated partial thromboplastin time (aPTT)], and blood sugar level were all within normal limits. Cerebrospinal fluid (CSF) analysis was normal. Computed tomography (CT) brain, however, showed diffuse atrophy of the right frontal, temporal, and parietal lobes with some cortical calcifications and widened adjacent CSF spaces. Magnetic resonance imaging (MRI) brain [Figure 2] revealed intense gyral enhancement in the right cerebral hemisphere, along with leptomeningeal enhancement, and no evidence of involvement of the left cerebral hemisphere. The child was given supportive care. During the hospital stay, she developed seizures in the form of twitching of the eyelids and repeated deviations of the angle of the mouth to the left side, for which anticonvulsants were started. Electroencephalogram (EEG) showed abnormal discharges in the temporoparietal areas. After about 3 days of admission, the left-sided weakness started improving and also, the seizures got controlled. The baby was discharged in a stable condition and is on regular follow-up. It was imperative to report this case as this baby presented with a stroke-like episode initially rather than seizure which is a more consistent feature in infancy in this syndrome. | Figure 2: MRI brain showing intense gyral enhancement in the right cerebral hemisphere, along with leptomeningeal enhancement with sparing of the left cerebral hemisphere
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Discussion | | |
SWS is a rare disorder characterized by neurological problems and a PWS. [2] It is caused by residual embryonal blood vessels and their secondary effects on the surrounding brain tissue. A vascular plexus develops around the cephalic portion of the neural tube, under the ectoderm destined to become facial skin, around the 6 th week of gestation. Failure of its normal regression results in the formation of angiomata of the leptomeninges, face, and ipsilateral eye. Neurologic dysfunction is due to secondary effects on the surrounding brain tissue, and includes hypoxia, ischemia, venous occlusion, thrombosis, infarction, or vasomotor phenomenon. [3],[4] Glaucoma is the most common serious eye problem of SWS, with a reported incidence of
30-70%. [5] It may be present at birth or develop later. Increased intraocular pressure may damage the optic nerve, usually in the eye on the same side as the PWS. [6] Enjoras et al.[7] concluded that the patients with angioma located in the ophthalmic and maxillary distribution of the trigeminal nerve are at risk for developing neuro-ocular symptoms. However, our child had not yet developed glaucoma. But regular follow-up is required to monitor for later development of the same.
The neurologic manifestations are variable, depending on the location of the leptomeningeal angiomas, as also on their secondary effects. These include seizures, which may be intractable; focal deficits like hemiparesis and hemianopsia, both of which may be transient, called "stroke-like episodes"; headaches; and developmental disorders, including developmental delay, learning disorders, and mental retardation. Developmental disorders are more common when angiomas are bilateral. Garcia et al. and Gomez and Bebin reported that venous occlusion might actually cause the initial neurologic event, either a seizure, transient hemiparesis, or both, thereby beginning the process. [8],[9]
Convulsions occur in approximately 75% of patients, 75% of which appear within the first year of life. The majority of seizures are partial motor or complex partial types. [10] Our patient had complex partial seizures.
SWS is referred to as complete when both CNS and facial angiomas are present and incomplete when only one area is affected without the other. Our case was type I SWS without glaucoma, according to Roach scale. [11]
With typical manifestations, the diagnosis of SWS is not hard, but it is difficult to make the diagnosis for atypical patients only with facial or intracranial vascular malformation. It has been reported that the incidence of SWS in children with facial cutaneous vascular malformation is approximately 8%. So, a high index of suspicion must be present if the facial cutaneous angiomas are following the ophthalmic division of the trigeminal nerve and imaging (CT or MRI brain) should be performed to screen for intracranial leptomeningeal angiomatosis. The intracranial calcifications found in these cases are often curvilinear and of railroad track pattern ipsilateral to PWS, usually in the occipital and posterior parietal lobes. But other cortical regions and both cerebral hemispheres may also be affected. [12] CSF protein may be elevated, presumably secondary to microhemorrhage. Differential diagnosis includes Rendu-Osler-Weber Syndrome, angio-osteodystrophy syndrome, Maffuci syndrome, Von Hippel Lindau disease, etc. [13] In the "incomplete" forms of SWS, CNS angiomas occur without cutaneous features (type III, Roach scale), and therefore, no suspicion of SWS arises until a seizure or other neurologic problem develops. Thus, the diagnosis of SWS is not always straightforward.
Workup in these cases includes skull radiograph, CT or MRI of the brain, EEG for evaluation and localization of seizure activity, and CSF analysis. Treatment is mainly symptomatic. Seizure control is thought to improve the neurologic outcome, and epilepsy surgery may be beneficial for refractory seizures and may prevent neurologic deterioration. [14] Aspirin may be beneficial for stroke-like events.
Most cases of this syndrome are not life threatening despite this being a progressive disorder. Prognosis is worst in the minority of children who have both sides of the brain affected by the blood vessel abnormalities.
Acknowledgment | | |
The Author would like to thank the patient for providing consent to use her photograph in this article.
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[Figure 1], [Figure 2]
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