Deficiencia crónica de hexosaminidasa A asociada a neuropatía periférica sensitiva pura. / [Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
Medicina (B.Aires)
; 52(1): 55-9, 1992.
Article
em Es
| BINACIS
| ID: bin-51133
Biblioteca responsável:
AR2.1
ABSTRACT
One patient with hexosaminidase A (Hx A) deficiency, which produces GM2 gangliosidosis, developed a complex progressive neurological syndrome, starting when he was 10 years old, which encompassed intellectual impairment, cerebellar involvement, features of upper and lower motoneurones compromise and sensory neuropathy without signs of motor fibre damage within the peripheral nerves. Sural nerve biopsy demonstrated loss of myelinated fibres, mainly of those of large and small diameters, clusters of small diameter fibres, fibres with abnormal thin myelin sheaths related to their axonal diameters, axonal degeneration, segmental and paranodal demyelination and remyelination. Electronmicroscopic examination showed small electrondense, non specific, bodies and concentric lamellar inclusions within the cytoplasm of the Schwann cells. These findings demonstrate that pure sensory peripheral neuropathy should be considered as part of the spectrum which may result from Hx A deficiency.
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Coleções:
06-national
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AR
Base de dados:
BINACIS
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Idioma:
Es
Revista:
Medicina (B.Aires)
Ano de publicação:
1992
Tipo de documento:
Article
País de publicação:
Argentina