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Scientific paper - Case study
Recurrent Atypical Optic Neuritis as the Leading Sign of Fabry Disease
Acta clinica Croatica, 58. (2019), 3.; 550-555. https://doi.org/10.20471/acc.2019.58.03.22
Zavoreo, Iris; Jurašić, Miljenka Jelena; Lisak, Marijana; Jadrijević Tomas, Ana; Zrinščak, Ognjen; Bašić Kes, Vanja

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Zavoreo, I., Jurašić, M. J., Lisak, M., Jadrijević Tomas, A., Zrinščak, O. & Bašić Kes, V. (2019). Recurrent Atypical Optic Neuritis as the Leading Sign of Fabry Disease. Acta clinica Croatica, 58.. (3.), 550-555. doi: 10.20471/acc.2019.58.03.22

Zavoreo, Iris, et al. "Recurrent Atypical Optic Neuritis as the Leading Sign of Fabry Disease." Acta clinica Croatica, vol. 58., no. 3., 2019, pp. 550-555. https://doi.org/10.20471/acc.2019.58.03.22

Zavoreo, Iris, Miljenka Jelena Jurašić, Marijana Lisak, Ana Jadrijević Tomas, Ognjen Zrinščak and Vanja Bašić Kes. "Recurrent Atypical Optic Neuritis as the Leading Sign of Fabry Disease." Acta clinica Croatica 58., no. 3. (2019): 550-555. https://doi.org/10.20471/acc.2019.58.03.22

Zavoreo, I., et al. (2019) 'Recurrent Atypical Optic Neuritis as the Leading Sign of Fabry Disease', Acta clinica Croatica, 58.(3.), pp. 550-555. doi: 10.20471/acc.2019.58.03.22

Zavoreo I, Jurašić MJ, Lisak M, Jadrijević Tomas A, Zrinščak O, Bašić Kes V. Recurrent Atypical Optic Neuritis as the Leading Sign of Fabry Disease. Acta clinica Croatica [Internet]. 2019 [cited 2025 March 24];58.(3.):550-555. doi: 10.20471/acc.2019.58.03.22

I. Zavoreo, M. J. Jurašić, M. Lisak, A. Jadrijević Tomas, O. Zrinščak and V. Bašić Kes, "Recurrent Atypical Optic Neuritis as the Leading Sign of Fabry Disease", Acta clinica Croatica, vol. 58., no. 3., pp. 550-555, 2019. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:220:527065. [Accessed: 24 March 2025]

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Title (english)Recurrent Atypical Optic Neuritis as the Leading Sign of Fabry Disease
Title (croatian)Ponavljajući atipični optički neuritis kao prvi znak Fabryjeve bolesti
AuthorIris Zavoreo
AuthorMiljenka Jelena Jurašić
AuthorMarijana Lisak
AuthorAna Jadrijević Tomas
AuthorOgnjen Zrinščak
AuthorVanja Bašić Kes
Author's institution(Sestre milosrdnice University Hospital Center)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Ophthalmology
Abstract (english)
Acute optic neuritis has the age and sex adjusted incidence of 1-5/100,000 in general population. It is mostly a disorder affecting young Caucasian women (31-32 years). Patients present to a wide range of clinicians including general practitioner, emergency physician, ophthalmologist, neurologist, etc. There are two main clinical presentations of optic neuritis, typical and atypical. It is of great importance to distin-guish these two types of optic neuritis in order to detect the underlying etiology and plan appropriate and timely treatment. We present a young female patient (36 years) admitted to Department of Ophthalmolo-gy due to visual loss on the left eye. Magnetic resonance imaging showed demyelinating lesions in frontal and parietal lobe, periventricularly, in mesencephalon and right cerebellar hemisphere, and left optic neuri-tis; magnetic resonance angiography was normal. The patient’s history revealed renal dysfunction, hypo-thyroidism, and miscarriage in the 6th month of pregnancy due to eclampsia, and Fabry disease in family (mother and two sisters). She was transferred to the Department of Neurology for further evaluation of the demyelinating disorder of the central nervous system. The patient received corticosteroid therapy (methylprednisolone 1 g) for 5 days with regression of visual disturbances on the left eye. After this acute treatment, the question of definitive diagnosis remained, along with further treatment of the underlying cause. Considering renal dysfunction, miscarriage, arterial hypertension, positive genetic and biochemical testing for Fabry disease in close relatives (mother), we suspected that she also had Fabry disease. She was tested and the results were positive. We concluded that optic neuritis was the first sign of Fabry disease in this case, reflecting acute atypical neuroinflammatory disease.
Abstract (croatian)
Fabryjeva bolest je rijetka X vezana lizosomska bolest nakupljanja koja zahvaća više organskih sustava u organi-zmu, a u središnjem živčanom sustavu (SŽS) se prezentira kao lezije bijele tvari koje su posljedica vaskulopatije i autoimunih procesa na razini koroidnog pleksusa. Prikazuje se slučaj mlade žene (36 godina) koja je primljena na našu Kliniku zbog poremećaja vida na lijevom oku. Nalaz magnetske rezonance (MR) mozga je pokazao demijeli-nizacijske lezije u frontalnom i parijetalnom režnju, periventrikularno, u mezencefalonu, desnoj hemisferi malog mozga te optički neuritis lijevo. Nalaz MR angiografije mozga je bio uredan. U osobnoj anamnezi se doznaje da se bolesnica liječila zbog bubrežne insuficijencije, hipotireoze te da je u 6. mjesecu trudnoće imala spontani pobačaj uslijed eklampsije. U obiteljskoj anamnezi se doznaje da majka boluje od Fabryjeve bolesti. U analizi cerebrospi-nalnog likvora nađe se blaga pleocitoza, uredna funkcija krvnomoždane barijere te sinteza IgG unutar SŽS-a, oligo-klonske vrpce tip 3. Vidni evocirani potencijali pokazali su disfunkciju prekjazmalno lijevo. Genetsko testiranje na Fabryjevu bolest pokazalo je pozitivan nalaz, 2 heterozigotne mutacije, smanjenu aktivnost alfa galaktosidaze te povišene vrijednosti Lyso GB3. Bolesnica je primila pulsnu kortikosteroidnu terapiju (metilprednisolon 1 g) kroz 5 dana na što dolazi do regresije smetnji vida na lijevom oku. Nakon akutnog liječenja simptoma postavlja se pitanje konačne dijagnoze i dugoročnog liječenja. Uzimajući u obzir prisutnost bubrežne insuficijencije, eklampsiju u trud-noći uz spontani pobačaj, pozitivne rezultate genetskog testiranja i biokemijskih analiza za Fabryjevu bolest te na-laza MR mozga koji opisuje promjene dominantno u području stražnje cirkulacije, zaključili smo da će se u bolesni-ce najvjerojatnije raditi o Fabryjevoj bolesti uz autoimune promjene u SŽS-u i da je bolesnicu potrebno liječiti en-zimskom nadomjesnom terapijom. S obzirom na smetnje vida i nalaze pozitivnih oligoklonskih vrpci koji mogu govoriti i u prilog multiple skleroze potrebno je dalje pratiti bolesnicu klinički i neuroradiološki kako bi se postavila definitivna dijagnoza.
Keywords (english)
Keywords (croatian)
Languageenglish
Languagecroatian
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleActa clinica Croatica
Numberingvol. 58., no. 3., pp. 550-555
p-ISSN0353-9466
e-ISSN1333-9451
DOIhttps://doi.org/10.20471/acc.2019.58.03.22
URN:NBNurn:nbn:hr:220:527065
Publication2019
Document URLhttps://hrcak.srce.hr/230283
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2023-11-10 13:06:01