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Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
Resumo
GARCIA GARCIA, Ramiro; LANTIGUA CRUZ, Aracely e PASCUAL GISPERT, Joaquín. Pelizaeus-Merzbacher: un trastorno hereditario de la mielina. Rev Cubana Pediatr [online]. 1996, vol.68, n.2, pp. 131-137. ISSN 1561-3119.
The clinical characteristics of 5 male patients from the same family with a diagnosis of Pelizaeus-Merzbacher disease are described. Their main characteristic is the early onset of the disease, determined by the presence of nystagmus and by a slow progressive lost of habilities, mainly of the motor functions. These patients are compared to what has been reported in world literature.
Palavras-chave : CEREBRAL SCLEROSIS, DIFFUSE; PSYCHOMOTOR DISORDERS; NYSTAGMUS; MYELIN SHEATH.