Central nervous system alterations in a case of short-rib polydactyly syndrome, Majewski type.
The authors present a case of CNS abnormalities in a female newborn infant with Majewski syndrome. On examination the gyri were found to be normal, but there was narrowing of the corpus callosum and fornix, and dilated ventricles. A vermis hypoplasia and an arachnoid cyst were found between the cerebellar hemispheres. Cross-section of the cervical and thoracic segments revealed a flattened spinal cord in the sagittal section. There were reactive astrocytes and heterotopic ganglion cells in the white matter and isolated hypoxically damaged nerve-cells in the subiculum and nuclear masses of the brainstem. These findings are discussed with reference to the literature.
Prudlo
J
J
Department of Neuropathology, Klinikum Steglitz, Free University, Berlin, Germany.
Stoltenburg-Didinger
G
G
Jimenez
E
E
Cervós-Navarro
J
J
D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D003337:Corpus Callosum / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis* / Q000473:pathology