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ISSN 1684-1824 (Electronic)

2019, Number 2

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Rev Méd Electrón 2019; 41 (2)

Syndrome of Blue Rubber Bled Nevus. Case presentation

Naranjo AY, Peñate BJB, Fernández PY, Dayoub RI, Quintana AM

Language: Spanish
References: 15
Page: 522-529
PDF size: 1143.15 Kb.


ABSTRACT

The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight irondeficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation.


REFERENCES

  1. Richardson JC, Steele J, Olszewski J. Supranuclear ophthalmoplegia, pseudobulbar palsy, nuchal dystonia and dementia. A clinical report on eight cases of "heterogeneous system degeneration". Trans Am Neurol Assoc. 1963;88:25-9. Citado en PubMed; PMID: 14272249.

  2. Carmona-Abellán MM, Luquin MR, Lamet I, et al. Perfil neuropsicológico de la degeneración lobar frontotemporal. Anales Sis San Navarra [Internet]. 2015 [citado 03/03/2016];38(1):79-92. Disponible en: http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1137- 66272015000100009&lng=es

  3. Erro ME, Gil Alzueta M. Parálisis supranuclear progresiva. Rev Neurol [Internet]. 2012 [citado 03/03/2015];54(Supl.4):53-8. Disponible en: https://dialnet.unirioja.es/servlet/articulo?codigo=4713452

  4. Boeve BF. Progressive supranuclear palsy. Parkinsonism Relat Disord [Internet]. 2012 [citado 03/03/2016];18(Suppl.1):S192-4. Disponible en: https://www.prdjournal. com/article/S1353-8020(11)70060-8/abstract

  5. León Manríquez E, Velázquez Osuna S, Morales Briceño H, et al. Comparación de la calidad de vida en pacientes con parálisis supranuclear progresiva y enfermedad de Parkinson y su repercusión en el cuidador. Arch Neurocien [Internet]. 2015 [citado 03/03/2016];20(2):99-103. Disponible en: http://www.medigraphic.com/pdfs/arcneu/ane-2015/ane152a.pdf

  6. Ling H, De Silva R, Massey LA, et al. Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant. Neuropathol Appl Neurobiol. 2014;40(2):149-63. Citado en PubMed; PMID: 23432126.

  7. Whitwell JL, Jack CR, Parisi JE, et al. Midbrain atrophy is not a biomarker of progressive supranuclear palsy pathology. Eur J Neurol. 2013;20(10):1417-22. Citado en PubMed; PMID: 23746093.

  8. Kvickström P, Eriksson B, Van Westen D, et al. Selective frontal neurodegeneration of the inferior fronto-occipital fasciculus in progressive supranuclear palsy (PSP) demonstrated by diffusion tensor tractography. BMC Neurol. 2011;11(13). Citado en PubMed; PMID: 21269463.

  9. Jecmenica-Lukic M, Petrovic IN, Pekmezovic T, et al. Clinical outcomes of two main variants of progressive supranuclear palsy and multiple system atrophy: a prospective natural history study. J Neurol. 2014;261(8):1575-83. Citado en PubMed; PMID: 24888315.

  10. Armstrong RA. White matter pathology in progressive supranuclear palsy (PSP): a quantitative study of 8 cases. Clin Neuropathol. 2013;32(5):399-405. Citado en PubMed; PMID: 23587170.

  11. Sale P, Stocchi F, Galafate D, et al. Effects of robot assisted gait training in progressive supranuclear palsy (PSP): a preliminary report. Front Hum Neurosci. 2014;8:207. Citado en PubMed; PMID: 24860459.

  12. Hutchinson M, Raff U, Chaná P, et al. Spin-lattice distribution MRI maps nigral pathology in progressive supranuclear palsy (PSP) during life: a pilot study. PLoS One. 2014;9(1):e85194. Citado en PubMed; PMID: 24489655.

  13. Joshi AC, Riley DE, Mustari MJ, et al. Selective defects of visual tracking in progressive supranuclear palsy (PSP): implications for mechanisms of motion vision. Vision Res. 2010;50(8):761-71. Citado en PubMed; PMID: 20123108.

  14. Vázquez Sánchez F, Redondo-Robles L, Galiana Ivars A, et al. Neuroimagen funcional en el estudio de los parkinsonismos: PET y SPECT. Rev Neurol [Internet]. 2012 [citado 03/03/2016];54(Supl.4):S33-S9. Disponible en: http://neurologia.com/sec/resumen.php?or=web&i=e&id=2012514

  15. Arredondo Bruce A, Huerta Ramírez J, Domínguez Calderón T, et al. Presentación de una paciente portadora de parálisis supranuclear progresiva. Rev Méd Electrón [Internet]. 2016 Nov-Dic [citado 03/03/2016];38(6). Disponible en: http://www.revmedicaelectronica.sld.cu/index.php/rme/article/view/1378/3218




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