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TYPE III ROACH SCALE STURGE-WEBER SYNDROME ASSOCIATED WITH AN EXTRACRANIAL LIPOMA - A CASE REPORT/VARIJANTA TIPA III STARDZ-VEBEROVOG SINDROMA PO ROUCU UDRUZENA SA EKSTRAKRANIJALNIM LIPOMOM--PRIKAZ SLUCAJA.

Introduction

Leptomeningeal angiomatosis and corticopial calcifications are among the main features of Sturge-Weber syndrome (SWS). SWS is a neurocutaneous disorder characterized by facial, ocular and cerebral vascular anomalies. Clinical presentation of SWS includes neurological features such as headaches, developmental delay, mental retardation and primarily seizures, as well as port-wine stain

(PWS), mostly unilateral, in the innervation field of the ophthalmic nerve (V1), sometimes including the maxillary (V2) and mandibular (V3) nerves. It can also be bilateral; glaucoma is the most common ocular manifestation, probably due to vascular eye abnormalities. According to Roach, there are three types of SWS; type I includes facial and leptomeningeal angiomatosis with or without glaucoma; type II includes facial angiomatosis with or without glaucoma and no intracranial manifestations, and type III includes only leptomeningeal angiomatosis without facial and ocular lesions [1-4]. The purpose of this article is to present an unusual case of a young male patient with seizures whose neuroimaging findings suggested type III SWS associated with extracranial lipoma in the innervation field of the ophthalmic nerve and to discuss possible differential diagnosis of this unique finding.
Abbreviations

SWS    --Sturge-Weber syndrome
MRI    --Magnetic Resonance Imaging
T1W    --T1 weighted
T2W    --T2 weighted
FLAIR  --Fluid-attenuated inversion recovery
SWI    --Susceptibility weighted imaging
CT     --Computed tomography
MA     --Meningioangiomatosis
WISC   --Wechsler Intelligence Scale for Children


Case Report

A 14-year-old boy, with a two-year history of well controlled generalized tonic clonic seizures with visual aura was admitted to our institution for neuroimaging examination. He was diagnosed with epilepsy and treated with valproic acid since the age of twelve. The seizure frequency was very low, with only two reported attacks per year, with similar semiology and duration. On admission, his neurological and physical states were unremarkable. Neuropsychological testing revealed normal cognitive and psychomotor development, with intelligence quotient (IQ) score of 126 on Wechsler Intelligence Scale for Children (WISC). Electroencephalography (EEG) was performed two days earlier and it revealed unilateral runs of right occipital spikes with secondary generalization. The Magnetic Resonance Imaging (MRI) showed a focal cerebral leptomeningeal enhancement in the right parasagittal occipital region (Figure 2A), associated with focal cortical atrophy (Figures 1 and 2B) and susceptibility weighted imaging (SWI) hypointense intracortical calcification (Figure 2C). As associated findings, hyperplastic enhanced ipsilateral choroid plexus and an overlying parietooccipital subcutaneous lipoma in the innervation field of ophthalmic nerve, were found (Figure 3). Non-enhanced computed tomography (CT) scans, performed subsequently, confirmed the presence of intracortical calcification (Figure 2D), revealing a (gyral) "tramtrack" pattern, obscured by blooming susceptibility effect on SWI scans (Figure 2C). The ophthalmological examination, performed due to radiologically suspected SWS, did not reveal any ocular and retinal abnormality, including glaucoma.

Discussion

Even though the exact etiology of SWS remains unclear, it is proposed that the main pathophysiological mechanism in the affected regions of the brain is the absence of well-functioning superficial cortical venous system, thus blood is redirected centrally via medullary veins, resulting in venous hyperemia and hypertension [5].

Neurological manifestations of SWS include seizures (75-90%), developmental delay (50-75%), headaches (40-60%) and hemiplegia (30%). The seizures are usually focal, arising from the areas of affected parenchyma, mostly parietooccipital. The early onset of seizures, larger unilateral lesions or bilateral disease, are risk factors for developing pharmacoresistant epilepsy and intellectual impairment [5-7]. Our patient had the first seizure attack at the age of twelve, and did not develop any other neurological or psychological disorders in the follow up years. On the contrary, his WISC score was 126, which puts him in the superior group. His mild neurological and normal neurocognitive status did not correlate with the pial angiomatosis and cortical atrophy extent, detected by MRI, affecting almost the whole medial surface of the right occipital lobe. These results prove that there is a big discrepancy between neuroimaging findings and clinical presentation in suspected cases of SWS variant, and neither clinical examination nor MRI alone is sufficient to make the correct diagnosis.

Regardless that the neuroimaging findings in our patient were highly suggestive of type III Roach variant of SWS, one should keep in mind, that similar imaging features could be present in other congenital pial angiomatosis related disorders and/or angioproliferative diseases. First of all, the meningioangiomatosis (MA) should be considered in differential diagnosis, especially in pediatric patients and young adults with seizures [8]. MA is a rare benign lesion of unknown etiology, usually affecting cerebral cortex and leptomeninges, but can also involve the brain stem and thalamus [9]. It can occur sporadically or associated with neurofibromatosis type II (NF II) [10]. In our patient, the diagnosis of MA was ruled out, based on the lack of perilesional vasogenic edema in the surrounding brain parenchyma, which was reported as typical for MA.

The MRI features in our patient differ from previously reported cases of pediatric and young adults with SWS, in detected additional findings. Intracranial convexity lipoma, as a rare associative finding to focal leptomeningeal enhancement and corticopial calcifications, was described in unique case of Morana et al. The clinical presentation in their two non-related pediatric patients was similar to our patient [11]. To the best of our knowledge, extracranial subcutaneous lipoma, overlaying angiomatous pial malformation in SWS has never been reported before. More interestingly, lipoma was completely within the innervation field of the right ophthalmic nerve. We believe that combined neuroimaging findings, such as pial angiomatosis and corticopial calcifications with atrophy of underlying brain parenchyma, in association with ipsilateral parietooccipital subcutaneous lipoma and seizures, without mental retardation and developmental delay, have not been reported yet, indicating a possibility of a rare manifestation of neurocutaneous disorder. The whole spectrum of clinical phenotypes associated with pial angiomatosis related disorders has still to be clearly defined.

Conclusion

Magnetic resonance imaging is one of the key imaging modalities that confirms the clinical suspicion of Sturge-Weber syndrome based on physical and neurological examinations. However, neither magnetic resonance imaging nor clinical examination alone is sufficient for a correct diagnosis of Sturge-Weber syndrome. In all pediatric and young adult patients, with clinical presentation of seizures, headaches, developmental delay or mental retardation and pial angiomatosis and cortical calcifications confirmed by magnetic resonance imaging, type III Sturge-Weber syndrome should be considered.

References

[1.] Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am. 1992;39(4):591-620.

[2.] Comi AM, Fischer R, Kossoff EH. Encephalofacial angiomatosis sparing the occipital lobe and without facial nevus: on the spectrum of Sturge-Weber syndrome variants? J Child Neurol. 2003;18(1):35-8.

[3.] Taddeucci G, Bonuccelli A, Polacco P. Migraine-like attacks in child with Sturge-Weber syndrome without facial nevus. Pediatr Neurol. 2005;32(2):131-3.

[4.] Piram M, Lorette G, Sirinelli D, Herbreteau D, Giraudeau B, Maruani A. Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol. 2012;29(1):32-7.

[5.] Comi AM. Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist. 2011;17(4):179-84.

[6.] Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: a review. Pediatr Neurol. 2004;30(5):303-10.

[7.] Siri L, Giordano L, Accorsi P, Cossu M, Pinelli L, Tassi L, et al. Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases. Eur J Paediatr Neurol. 2013;17(1):91-6.

[8.] Wiebe S, Munoz DG, Smith S, Lee DH. Meningioangiomatosis. A comprehensive analysis of clinical and laboratory features. Brain. 1999;122(Pt 4):709-26.

[9.] Arcos A, Serramito R, Santin JM, Prieto A, Gelabert M, Rodriguez-Osorio X, et al. Meningioangiomatosis: clinicalradiological features and surgical outcome. Neurocirugia (Astur). 2010;21(6):461-6.

[10.] Koutsopoulos AV, Yannopoulos A, Stathopoulos EN, Evangeliou A, Panayiotides JG, Kafousi M, et al. Meningioangiomatosis with predominantly cellular pattern. Case report. Neuropathology. 2003;23(2):141-5.

[11.] Morana G, Mancardi MM, Baglietto MG, Rossi A. Focal leptomeningeal enhancement and corticopial calcifications underlying a parietal convexity lipoma: a rare association of findings in 2 pediatric epileptic patients. J Child Neurol. 2011;26(5):634-7.

Rad je primljen 21. II 2019.

Recenziran 22. II 2019.

Prihvacen za stampu 22. II 2019.

BIBLID.0025-8105:(2019):LXXII:1-2:47-50.

Stefan STOJANOSKI (1, 2), Dusko KOZIC (1, 2), Milos LUCIC (1, 2) and Katarina KOPRIVSEK (1, 2)

University of Novi Sad, Faculty of Medicine Novi Sad (1)

Oncology Institute of Vojvodina, Sremska Kamenica Diagnostic Imaging Center (2)

Corresponding Author: Dr Stefan Stojanoski, Institut za onkologiju Vojvodine, Centar za imidzing dijagnostiku, 21204 Sremska Kamenica, Put dr Goldmana 4, E-mail: stefan.stojanoski92@gmail.com, stefan.stojanoski@mf.uns.ac.rs

https://doi.org/10.2298/MPNS1902047S
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Title Annotation:Case report/Prikaz slucaja
Author:Stojanoski, Stefan; Kozic, Dusko; Lucic, Milos; Koprivsek, Katarina
Publication:Medicinski Pregled
Article Type:Report
Date:Jan 1, 2019
Words:1395
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