2004, vol. 35, iss. 1, pp. 51-54
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Morbus gaucher type 3: Rarity in neurology
Morbus Gaucher tip 3 - raritet u neurologiji
University Clinical Centre of the Republic of Srpska, Clinic of Neurology, Banja Luka, Republic of Srpska, B&H
Keywords: Gaucher's disease; Gaucher's cells; Glucocerebrosidase
Abstract
Morbus Gaucher is a hereditary autosomal recessive, metabolic disease, resulting from genetic deficiency of liposomal enzyme glucocerebroside. It occurs in 3 forms: type 1 or chronic form, type 2 or acute infantile neuropathic form, type 3 or subacute juvenile neuropathic form. In neuropathic forms (type 2 and type 3), there is deposition of glucocerebrosides in brain. The diagnosis was confirmed by presence of Gaucher's cells in bone marrow, analysis of enzymes in rinsed leucocytes and skin fibroblast culture. The study describes a female patient, 29, hospitalized at the Neurology Clinic, Clinical Centre of Banja Luka for gradual development of progressive weakness in lower limbs, ataxia, epileptic attacks, tremor, bilateral paresis of n. abducens, psychological declining. Based on the neuro-radiological, neuro-physiological, cytological and laboratory examinations, the diagnosis of Morbus Gaucher Type 3 was determined, i.e. subacute juvenile neuropathic form, which is a very rare disease.
Sažetak
Morbus Gaucher je nasljedno autosomno-recesivno, metaboličko oboljenje, karakterisano genetskim deficitom lipozomnog enzima glukocerebrozidaze. Javlja se i 3 oblika: tip 1 ili hronični oblik, tip 2 ili akutni infantilni neuropatski oblik, tip 3 ili subakutni juvenilni neuropatski oblik. U neuropatskim oblicima (tip 2 i tip 3) postoji nakupljanje glukocerobrozida i mozgu. Dijagnoza se potvrđuje nalazom Gaucherovih éelija i kostnoj srü, ispitivanjem enzima i ispranim leukocitima i kulturi kožnih fibroblasta. U radu je prikazana bolesnica stara 29 godina, hospitalizovana i Klinici za neurologiju i Kliničkom centru Banja Luka, zbog postepeno nastale, progresivne slabosti i donjim ekstremitetima, ataksije, epileptičkih napada, tremora, obostrane pareze nervus abducensa, psihičkog propadanja. Na osnovu neuroradioloških, neurofizioloških, citoloških i laboratorijskih ispitivanja postavljena je dijagnoza Morbus Gaucher tip 3, odnosno subakutni juvenilni neuropatski oblik ove bolesti koji je veoma rijetko oboljenje.
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