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NRM > Volume 2, Number 1, February 2019

A Case of Metachromatic Leukodystrophy with an Emphasis on Morphology

Download PDF  (2044 KB)PP. 1-8,  Pub. Date:February 18, 2019
DOI: 10.22606/nrm.2019.21001

Author(s)
Gennady Bisaga, Olga Gaykova, Ljudmila Onishchenko, Alexey Sobolev, Tatiana Bukina, Ekaterina Zakharova, Alexey Sokolov, Vera Ellinidi, Alexey Popov, Igor Litvinenko
Affiliation(s)
The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation; The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation; The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation; The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation; FSBI Research Centre of Medical Genetics of the Russian Academy of Medical Sciences St. Petersburg 1, Russian Federation; FSBI Research Centre of Medical Genetics of the Russian Academy of Medical Sciences St. Petersburg 1, Russian Federation; The Department of Extracorporal Detoxication of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation; The Laboratory of Clinical Immunology of the Nikiforov Russian Center of Emergency and Radiation Medicine of the Ministry of Emergency Situations, St. Petersburg, Russian Federation; The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation; The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation
Abstract
Clinical, imaging, laboratory and morphological data of a metachromatic leukodystrophy (MLD) patient were analyzed retrospectively. The clinical picture consisted of progressing pyramidal, cerebellar, brain stem, optical, mental, and bowel and bladder disturbances, and epileptic seizures. Large symmetric periventricular T2 lesions were seen on the magnetic resonance imaging brain scans. Unspecific lesions of 11C-methionine storage were found by brain positron emission tomography. Light microscopy of brain biopsy did not reveal any morphological changes specific for MLD, but some unusual pictures of myelinopathy in many myelin fibers were detected by electron microscopy. Biochemical analysis of lysosomal ferments or their activator proteins and deoxyribonucleic acid (DNA) diagnostics were conclusive for the diagnosis of MLD. Differential diagnosis was performed to identify various leukodystrophy forms and other central nervous system diseases.
Keywords
Metachromatic leukodystrophy, brain biopsy, light microscopy, immunohistochemistry, electron microscopy, DNA-diagnostics.
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