ISSN:
1432-0533
Keywords:
Connatal Pelizaeus-Merzbacher disease
;
Congenital stridor
;
X-linked inheritance
;
Psychomotor retardation
;
Quantified cerebral morphology
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease. Quantitative morphology gives support to the hypothesis that PMD is a disturbance in maturation of neurons and in myelin formation rather than an active degenerative process. The hereditary transmission is most consistent with a sex-linked recessive pattern. Different X-linked signs seem combined in the presented cases.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00691328
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