ISSN:
1432-0533
Schlagwort(e):
Gruber's syndrome
;
Heterotopia in spinal cord
;
Micropolygyria in neocortex
;
Purkinje cell heterotopia
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Summary A macrosomic male infant with multiple malformations survived for 4 days. His external dysplasias comprised macrocephalus, cheilopalatoschisis, auricular anomalies, and unilateral hexadactyly; his internal dysplasias included cysts of kidneys and pancreas, and a patent foramen ovale. The child had frequent generalized convulsions and died of bronchopneumonia. Chromosomal analysis was normal. The main neuropathological findings were a cleft foramen magnum, micropolygyria and heterotopia of the neocerebrum, hypoplasia of the vermis and central white matter of the cerebellum, diffuse heterotopia of Purkinje cells, and unique heterotopic gray matter in the central cervical cord. The infant's disorder was classified as Gruber's syndrome, and this report may be the first detailed description of CNS malformations in this syndrome which, however, are probably not specific for this syndrome. The neuropathological findings were compatible with a heterochronic pathogenesis. This and the familial occurrence of malformations suggest a genetic nature of the syndrome.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00690449
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