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2004, vol. 35, iss. 1, pp. 51-54
Morbus gaucher type 3: Rarity in neurology
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.
References
Daniels, L.B., Coyle, P.J., Glew, R.H., Radin, N.S., Labow, R.S. (1982) Brain glucocerebrosidase in gaucher's disease. Archives of Neurology, 39(9), 550-556
Gaucher, P.C.E. (1882) De L'epithelioma primitif de la rate hypertrophie idiopathique de la rate sans leucemie. University of Paris, Academie thesis
Klein, M., Kaminsky, P., Duc, M. (1995) Gaucher's disease: Curent aspects. Rev Med Interne, 16, 447-456
Radojčić, B. (1996) Bolesti nervnog sistema. Beograd: Elit medica
Victor, M., Adams, R., Ropper, A. (2001) Adams & victor's principles of neurology. New York: McGraw-Hill
 

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article language: Serbian
document type: Case Report
DOI: 10.5937/ScriMed0401051G
published in SCIndeks: 18/03/2020

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