首页> 外文期刊>Journal of child neurology >Neuropathological homology in true Galloway-Mowat syndrome.
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Neuropathological homology in true Galloway-Mowat syndrome.

机译:真正的Galloway-Mowat综合征的神经病理学同源性。

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摘要

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.
机译:Galloway-Mowat综合征是一种罕见疾病,尽管尚未确定潜在的致病基因,但很可能是遗传性疾病,其特征是小头畸形和严重的肾病综合征最终导致儿童死亡。一些报道的病例在神经元迁移和顽固性癫痫发作方面存在异常,但是所描述的许多病例集中在肾脏病理上,并着重于临床和病理特征的多样性。本文所述的病例包括全面的神经病理学描述,并且当仔细检查先前发表的病例的神经影像学和神经病理学时,就会出现相当一致的临床和神经病理学表型。

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