학술논문
RECURRENT ATYPICAL OPTIC NEURITIS AS THE LEADING SIGN OF FABRY DISEASE/PONAVLJAJUCI ATIPICNI OPTICKI NEURITIS KAO PRVI ZNAK FABRYJEVE BOLESTI
Case Report
Case Report
Document Type
Academic Journal
Author
Source
Acta Clinica Croatica. September 2019, Vol. 58 Issue 3, p550, 6 p.
Subject
Language
English
ISSN
0353-9466
Abstract
Introduction 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 [...]
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 distinguish 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 Ophthalmology 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 neuritis; magnetic resonance angiography was normal. The patient's history revealed renal dysfunction, hypothyroidism, 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. Key words: Optic neuritis; Fabry disease; Diagnosis; Therapeutics; Female; Case reports Fabryjeva bolest je rijetka X vezana lizosomska bolest nakupljanja koja zahvaca vise organskih sustava u organizmu, a u sredisnjem zivcanom sustavu (SZS) se prezentira kao lezije bijele tvari koje su posljedica vaskulopatije i autoimunih procesa na razini koroidnog pleksusa. Prikazuje se slucaj mlade zene (36 godina) koja je primljena na nasu Kliniku zbog poremecaja vida na lijevom oku. Nalaz magnetske rezonance (MR) mozga je pokazao demijelinizacijske lezije u frontalnom i parijetalnom reznju, periventrikularno, u mezencefalonu, desnoj hemisferi malog mozga te opticki neuritis lijevo. Nalaz MR angiografije mozga je bio uredan. U osobnoj anamnezi se doznaje da se bolesnica lijecila zbog bubrezne insuficijencije, hipotireoze te da je u 6. mjesecu trudnoce imala spontani pobacaj uslijed eklampsije. U obiteljskoj anamnezi se doznaje da majka boluje od Fabryjeve bolesti. U analizi cerebrospinalnog likvora nade se blaga pleocitoza, uredna funkcija krvnomozdane barijere te sinteza IgG unutar SZS-a, oligoklonske 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 povisene vrijednosti Lyso GB3. Bolesnica je primila pulsnu kortikosteroidnu terapiju (metilprednisolon 1 g) kroz 5 dana na sto dolazi do regresije smetnji vida na lijevom oku. Nakon akutnog lijecenja simptoma postavlja se pitanje konacne dijagnoze i dugorocnog lijecenja. Uzimajuci u obzir prisutnost bubrezne insuficijencije, eklampsiju u trudnoci uz spontani pobacaj, pozitivne rezultate genetskog testiranja i biokemijskih analiza za Fabryjevu bolest te nalaza MR mozga koji opisuje promjene dominantno u podrucju straznje cirkulacije, zakljucili smo da ce se u bolesnice najvjerojatnije raditi o Fabryjevoj bolesti uz autoimune promjene u SZS-u i da je bolesnicu potrebno lijeciti enzimskom 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 klinicki i neuroradioloski kako bi se postavila definitivna dijagnoza. Kljucne rijeci: Opticki neuritis; Fabryjeva bolest; Dijagnostika; Terapijski postupci; Zenska osoba; Prikazi slucaja
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 distinguish 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 Ophthalmology 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 neuritis; magnetic resonance angiography was normal. The patient's history revealed renal dysfunction, hypothyroidism, 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. Key words: Optic neuritis; Fabry disease; Diagnosis; Therapeutics; Female; Case reports Fabryjeva bolest je rijetka X vezana lizosomska bolest nakupljanja koja zahvaca vise organskih sustava u organizmu, a u sredisnjem zivcanom sustavu (SZS) se prezentira kao lezije bijele tvari koje su posljedica vaskulopatije i autoimunih procesa na razini koroidnog pleksusa. Prikazuje se slucaj mlade zene (36 godina) koja je primljena na nasu Kliniku zbog poremecaja vida na lijevom oku. Nalaz magnetske rezonance (MR) mozga je pokazao demijelinizacijske lezije u frontalnom i parijetalnom reznju, periventrikularno, u mezencefalonu, desnoj hemisferi malog mozga te opticki neuritis lijevo. Nalaz MR angiografije mozga je bio uredan. U osobnoj anamnezi se doznaje da se bolesnica lijecila zbog bubrezne insuficijencije, hipotireoze te da je u 6. mjesecu trudnoce imala spontani pobacaj uslijed eklampsije. U obiteljskoj anamnezi se doznaje da majka boluje od Fabryjeve bolesti. U analizi cerebrospinalnog likvora nade se blaga pleocitoza, uredna funkcija krvnomozdane barijere te sinteza IgG unutar SZS-a, oligoklonske 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 povisene vrijednosti Lyso GB3. Bolesnica je primila pulsnu kortikosteroidnu terapiju (metilprednisolon 1 g) kroz 5 dana na sto dolazi do regresije smetnji vida na lijevom oku. Nakon akutnog lijecenja simptoma postavlja se pitanje konacne dijagnoze i dugorocnog lijecenja. Uzimajuci u obzir prisutnost bubrezne insuficijencije, eklampsiju u trudnoci uz spontani pobacaj, pozitivne rezultate genetskog testiranja i biokemijskih analiza za Fabryjevu bolest te nalaza MR mozga koji opisuje promjene dominantno u podrucju straznje cirkulacije, zakljucili smo da ce se u bolesnice najvjerojatnije raditi o Fabryjevoj bolesti uz autoimune promjene u SZS-u i da je bolesnicu potrebno lijeciti enzimskom 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 klinicki i neuroradioloski kako bi se postavila definitivna dijagnoza. Kljucne rijeci: Opticki neuritis; Fabryjeva bolest; Dijagnostika; Terapijski postupci; Zenska osoba; Prikazi slucaja