Sturge-Weber syndrome. Literature review about a case
Keywords:
Sturge-Weber syndrome, angioma, hamartoblastosisAbstract
Introduction: Sturge-Weber syndrome (SSW) is recognized among hamartoblastosis, whose diagnosis is unusual and complex treatment.
Objective: to socialize the experience in the care of a pediatric patient with Sturge-Weber syndrome at the "General Pedro Agustín Pérez" Pediatric Teaching Hospital in Guantanamo.
Method: a preschool patient was presented, with no family history of interest. One month after birth, he underwent congenital glaucoma surgery. During the first year of life he presented retardation of psychomotor development and involuntary movements considered tonic-clonic seizures. Literature was reviewed to transmit to the medical community, in particular, to medical students and general practitioners, information to achieve a diagnosis and adequate follow-up of this condition.
Results: according to the clinical manifestations, physical examination by means of the clinical method and the results of the complementary examinations, the diagnosis of neurocutaneous syndrome was proposed, in particular a SSW. Treatment with diazepam was applied and when the crisis persisted, phenytoin. The first classification of neurocutaneous syndromes was carried out by Jan Van der Hoeve, who coined the term phacomatosis. It is a congenital neurological disorder, not inherited although there have been family cases described, uncommon but frequent compared to other neurocutaneous syndromes. An incidence of 5 x 100,000 live births is estimated. It affects all ethnic groups and both sexes.
Conclusions: there is not always a relationship between the severity of cutaneous, neurological and ocular manifestations of SSW with brain disorders. The physical examination is important to establish the timely diagnosis and avoid future sequelae and complications.
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References
2. Ishikawa H, Li Y, Niwa A, Matsuura K, Maeda M, Tomimoto H. A case of 55-year-old man with first-ever generalized seizure diagnosed with Sturge Weber syndrome type III by characteristic MRI findings. Rinsho Shink Clin Neur [en línea]. 2016 [citado 20 Ene 2019]; 57(5): 214-219. DOI: http://dx.doi.org/10.5692/clinicalneurol.cn-001006
3. Comi A. Current Therapeutic Options in Sturge Weber Syndrome. Sem Pedc Neurol [en línea]. 2015 [citado 20 Ene 2019]; 22(4):295-301. DOI: 10.1016/j.spen.2015.10.005
4. Sudarsanam A, Ardern HS. Sturge Weber syndrome: from the past to the present. Eur J Paed Neurol [en línea]. 2014 [citado 20 Ene 2019]; 18(3):257-66. DOI: http://dx.doi.org/10.1016/j.ejpn.2013.10.003
5. Thomas AC, Zeng Z, Riviere JB, O’Shaughnessy R, Al-Olabi L, St-Onge J, Atherton, D.J.; Aubert H, BagazgoitiaL, Barbarot S, et al. Mosaic activating mutations in gna11 and gnaq are associated with phakomatosis pigmento vascularis and extensive dermal melanocytosis. J Inv Dermatol [en línea]. 2016 [citado 20 Ene 2019]; 136:770-778. DOI: http://dx.doi.org/.org/10.1016/j.jid.2015.11.027
6. Huang L, Couto JA, Pinto A, Alexandrescu S, Madsen JR, Greene A K, et al. Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge Weber Syndrome. Ped Neurol [en línea]. 2017 [citado 20 Ene 2019]; 67:59-63. DOI: http://dx.doi.org/10.1016/j.pediatrneurol.2016.10.010
7. Martins L, Giovani PA, Reboucas PD, Brasil DM, Haiter NF, Coletta RD, et al. (2017). Computational analysis for GNAQ mutations: new insights on the molecular etiology of Sturge Weber syndrome. J Mol Graph Model [en línea]. 2016 [citado 20 Ene 2019]; 76:429-440. DOI: http://dx.doi.org/10.1016/j.jmgm. 2017.07.011
8. Zallmann M, Leventer RJ, Mackay MT, Ditchfield M, Bekhor PS, Su JC. Screening for Sturge Weber syndrome: A state of the art review. Ped Dermatol [en línea]. 2018 [citado 20 Ene 2019]; 35(1):30-42. DOI: http://dx.doi.org/10.1111/pde.13304
9. Limura Y, Sugano H, Nakajima M, Higo T, Suzuki H, Nakanishi H, Arai H. Analysis of epileptic discharges from implanted subdural electrodes in patients with Sturge Weber Syndrome. PloS One [en línea]. 2016 [citado 20 Ene 2019]; 11(4):e0152992. DOI: http://dx.doi.org/.org/10.1371/journal.pone.0152992
10. Juhasz C, Hu J, Xuan Y, Chugani HT. Imaging increased glutamate in children with Sturge Weber syndrome. Epilepsy Res [en línea]. 2016 [citado 20 Ene 2019]; 2(1):71-80. DOI: 10.1016/j.eplepsyres.2016.02.010
11. Maraña PAI, Ruiz FR, Puertas MV, Dominguez CJ, Carreras SI, Duat RA, et al. Analysis of Sturge Weber syndrome: A retrospective study of multiple associated variables. Neurología [en línea]. 2017 Jul-Ago [citado 20 Ene 2019]; 32(6): 363-370. DOI: 10.1016/j.nrl.2015.12.012
12. Zhang J, Ma J, Du X, Wu D, Ai H, Bai J. Clinical and genetic investigation of a multigenerational chinese family afflicted with Von Hippel Lindau disease. Chin Med J (Engl) [en línea]. 2015 [citado 20 Ene 2019]; 128(1):32-8. DOI: 10.4103/0366-6999.147802
13. Dymerska M, Kirkorian AY, Offermann EA, Lin DD, Comi A. M., Cohen B. A. Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge Weber Syndrome. J Ped [en línea]. 2017 [citado 20 Ene 2019]; 188:205-209. DOI: 10.1016/j.jpeds.2017.05.053
14. Poliak N, Rainey A. Concurrent Sturge Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. Cutis [en línea]. 2017 [citado 20 Ene 2019]; 100(4):252-254. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/29136059
15. Bosnyak E, Behen ME, Guy WC, Asano E, Chugani HT, Juhasz C. Predictors of Cognitive Functions in Children With Sturge Weber Syndrome: A Longitudinal Study. Ped Neurol [en línea]. 2016 [citado 20 Ene 2019]; 61:38-45. DOI: 10.1016/j.pediatrneurol.2016.05.012
16. Nguyen V, Hochman M, Mihm MC, Stuart NJ, Tan W. The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. Int J Mol Sci [en línea]. 2019 [citado 20 Ene 2019]; 20(9):2243-2260. DOI: 10.3390/ijms20092243
17. Kavanaugh B, Sreenivasan A, Bachu, C, Papazoglou A, Comi A, Zabel TA. Intellectual and adaptive functioning in Sturge Weber Syndrome. Child Neuropsyc [en línea]. 2016 [citado 20 Ene 2019]; 22(6):635-648. DOI: 10.1080/09297049.2015.1028349
18. Balkuv E, Isik N, Canturk IA, Isik N, Basaran R. Sturge weber syndrome: a case report with persistent headache. Pan Afr Med J [en línea]. 2014 [citado 20 Ene 2019]; 18:87-91. DOI: 10.11604/pamj.2014.18.87.3346
19. Gittins, Steel D, Brunklaus A, Newsom DI, Hawkins C, Aylett SE. Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge Weber syndrome. Epilepsy Behav [en línea]. 2018 [citado 20 Ene 2019]; 88:1-4. DOI: 10.1016/j.yebeh.2018.08.006
20. Koenraads Y, Egmond EMB, Boer JH, Imhof SM, Braun KPJ, Porro GL. Visual outcome in Sturge Weber syndrome. Acta Ophthalmol [en línea]. 2016 [citado 20 Ene 2019]; 94(7):638-645. DOI: 10.1111/aos.13074
21. Whitehead MT, Vezina G. Osseous intramedullary signal alteration and enhancement in Sturge Weber syndrome. Neuroradiology [en línea]. 2015 [citado 20 Ene 2019]; 57(4):395-400. DOI: 10.1007/s00234-015-1488-6
22. Zallmann M, Mackay MT, Leventer RJ; Ditchfield, M, Bekhor PS, Su JC. Screening for Sturge Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants. Ped Dermatol [en línea]. 2018 [citado 20 Ene 2019]; 35(1):575-581. DOI: 10.1111/pde.13304
23. Offermann EA, Sreenivasan A, DeJong MR, Lin DDM, McCulloch CE, Chung MG, et al. Reliability and clinical correlation of transcranial doppler ultrasound in Sturge Weber Syndrome. Ped Neurol [en línea]. 2017 [citado 20 Ene 2019]; 74:15-23.e5. DOI: 10.1016/j.pediatrneurol.2017.04.026
24. Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, et al. Ultrasensitive doppler digital PCR for detecting a low prevalence somatic GNAQ mutation in Sturge Weber syndrome. Scient Rep [en línea]. 2016 [citado 20 Ene 2019]; 6:22985. DOI: 10.1038/srep22985
25. Kaplan EH, Kossoff EH, Bachur CD, Gholston M, Hahn J, Widlus M, et al. Anticonvulsant efficacy in Sturge Weber Syndrome. Ped Neurol [en línea]. 2016 [citado 20 Ene 2019]; 58:31-36. DOI: 10.1016/j.pediatrneurol.2015.10.015
