Brain morphology in the Galloway syndrome.

Abstract

The Galloway syndrome is a rare autosomal recessive disease consisting of congenital microencephaly associated with congenital nephrotic syndrome, and in some cases with hiatus hernia [Galloway and Mowatt, 1968]. The case presented is that of a microencephalic infant with the nephrotic syndrome who died at 11 3/4 months after a course characterized by convulsions, developmental delay, hypotonia and hyperreflexia. Brain weight was 270 g. The frontal, parietal, and rostral temporal cortex was pachygyric. Microscopically there was lack of cortical stratification, immature cortical neurons, improper orientation of cortical neurons (seen in the Golgi stained sections), and glioneuronal ectopias in the leptomeninges. There was hypomyelination in the brain stem and spinal cord, and no myelin in the hemispheres. There was also complete absence of the internal granular layer of the cerebellum. The dentate gyrus within the hippocampal formation was absent and the inferior olivary nuclei were hypoplastic. The mechanism of neuronal migration abnormalities and the significance of associated nephrosis is discussed.

• Authors: P B Kozlowski, J H Sher, A D Nicastri, R D Rudelli
• Journal: Clinical neuropathology (Clin Neuropathol) Vol. 8 Issue 2 Pg. 85-91 ( 1989) ISSN: 0722-5091 [Print] Germany
• PMID: 2721045 (Publication Type: Case Reports, Journal Article)

Topics

• Brain (abnormalities, pathology)
• Cell Survival
• Cerebellum (pathology)
• Cerebral Cortex (pathology)
• Female
• Hernia, Hiatal (congenital)
• Hernias, Diaphragmatic, Congenital
• Humans
• Infant
• Microcephaly (genetics)
• Myelin Sheath (pathology)
• Nephrotic Syndrome (congenital)
• Syndrome