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Neuropathological homology in true Galloway-Mowat syndrome.

Keith, Julia; Fabian, Victoria A; Walsh, Peter; Sinniah, Raja; Robitaille, Yves.
J Child Neurol; 26(4): 510-7, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21233460
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.
Selo DaSilva