Neuropathological Homology in True Galloway-Mowat Syndrome

Author:

Keith Julia1,Fabian Victoria A.2,Walsh Peter3,Sinniah Raja4,Robitaille Yves5

Affiliation:

1. Department of Anatomical Pathology, Division of Neuropathology, Royal Perth Hospital, Perth, Australia, Département de pathologie, Centre hospitalier universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada, Department of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada, ,

2. Department of Anatomical Pathology, Division of Neuropathology, Royal Perth Hospital, Perth, Australia

3. Neurology Department, Princess Margaret Hospital for Children, Perth, Australia

4. Pathwest Laboratory Medicine, Royal Perth Hospital and University of Western Australia, Perth, Australia

5. Département de pathologie, Centre hospitalier universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada

Abstract

Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seizures, but many of the described cases focus on the renal pathology and emphasize a diversity of clinical and pathological features. The case described herein includes a thorough neuropathological description, and when the neuroradiology and neuropathology of the previously published cases is scrutinized, a fairly consistent clinical and neuropathological phenotype emerges.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

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