SINDROMUL MILLER-FISHER CU MIDRIAZĂ AREACTIVĂ BILATERALĂ ŞI BOALA GRAVES-BASEDOW: RAPORTARE DE CAZ

Abstract

Introducere. Sindromul Miller-Fisher (SMF) şi boala Graves-Basedow (BGB) sunt două afecţiuni autoimune diferite, rareori asociate. SMF, variantă a sindromului Guillain-Barre, se manifestă prin oftalmoplegie, ataxie şi areflexie. BGB este cauzată de hipertiroidism indus de anticorpii care stimulea-za receptorul TSH (TRAb). Scop. Prezentarea unui caz rar de asociere între SMF cu implicare pupilară şi BGB atipică, cu Introducere. manifestărilor clinice, paraclinice şi a evoluţiei sub tratament imunomodulator şi tireostatic. Material şi metode. Datele anamnestice, clinice şi paraclinice au fost prelevate din fişa medicala a pacientului. A fost investigat prin: examen de lichid cefalorahidian (LCR), electromiogra-fie (EMG), panel hormonal tiroidian, teste serologice: TRAb şi anticorpi antiGQ1b Ig G (Ac anti-GQ1b Ig G). A fost studiată literatura de specialitate privind cazurile similare. Rezultate. Femeie de 39 ani, internată cu acuze la diplopie, ataxie şi disautonomie vegetativă. Examenul neurologic: areflexie, midriază areactivă bilaterală, oftalmoplegie (nervul III, VI). LCR- normal, EMG: latenţă distală crescută şi amplitudine motorie redusă; TSH <0.004 (suprimat), fT3-5.51 si fT4-30.20 (măriţi); teste serologice: Ac anti-GQ1b IgG pozitivi (12,90), TRAb: 2,26 UI/L. Diagnosticul de SMF a fost susţinut de triada clinică specifică şi Ac anti-GQ1b. Boala Graves-Basedow a fost confirmată prin semne clinice şi TRAb. S-au administrat IVIg (0,4 g/kg/zi, 5 zile) şi thiamazole, cu regresia completă a oftalmoplegiei, ataxiei şi areflexiei. Concluzii. Asocierea a două boli autoimune rare, cu manifestări atipice - SMF cu midriază areactivă bilaterală şi LCR clar şi BGB atipic - indică o posibilă disfuncţie imună comună şi evidenţiază necesitatea recunoaşterii formelor clinice neobişnuite. În literatură sunt descrise doar două cazuri similare.

Introduction. Miller-Fisher Syndrome (MFS) and Graves-Basedow disease (GBD) are two different, rarely associated autoimmune conditions. MFS a variant of Guillain-Barre syndrome, appears with ophthalmoplegia, ataxia and areflexia. GBD is caused by hyperthyroidism induced by antibodies that stimulate the TSH receptor (TRAb). Objective. Presentation of a rare case of MFS with pupillary involvement associated with atypical GBD, detailing clinical/paraclinical findings and response to immuno- and thyrostatic therapy. Material and methods. The anamnestic, clinical and paraclinical data were taken from the patient's medical record. Investigations that were made: cerebrospinal fluid examination (CSF), electromyography (EMG), thyroid hormone panel, serological tests: TRAb and antiGQlb Ig G antibodies (Anti-GQlb Ig G). The specialized literature on similar cases was studied. Results. 39-year-old woman admitted with complaints of diplopia, ataxia and vegetative dysautonomy. Neurological examination: areflexia, bilateral areactive mydriasis, ophthalmoplegia (nerve III, VI). Normal CSF, EMG: increased distal latency and reduced motor amplitude; TSH <0.004 (suppressed), fT3-5.51 and fT4-30.20 (enlarged); serological tests: AntiGQlb IgG positive (12.90), TRAb: 2.26 IU/L. The diagnosis of MFS was supported by the clinical triad and anti-GQlb Ig G. GBD was confirmed by clinical signs and TRAb. IVIg (0.4 g/kg/day, 5 days) and thiamazole were administered with complete regression of ophthalmoplegia, ataxia and areflexia. Conclusion. The association of two rare autoimmune diseases with atypical manifestations: MFS with are-active mydriasis, clear CSF and atypical BGD - indicates a possible common immune dysfunction and highlights the need to recognize unusual clinical forms. Only two similar cases are described in the literature.