新生儿胆汁淤积症患者。

A Patient with neonatal cholestasis.

机构信息

Department of Neurology, University Hospital Leuven, Leuven, Belgium.

Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.

出版信息

J Mother Child. 2021 Jul 16;24(4):31-33. doi: 10.34763/jmotherandchild.20202404.d-20-00012.

DOI:10.34763/jmotherandchild.20202404.d-20-00012

PMID:33684277

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8330358/

Abstract

The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably due to heterozygosity for a novel pathogenic variant.

摘要

患者为 1991 年出生的男孩，患有明显的多骨性纤维结构不良，系 McCune-Albright 综合征所致，同时患有 Gilbert 综合征和 Ch arcot-Marie-Tooth 神经病，系由突变引起。此外，该患者、其妹妹、母亲和外祖父间歇性出现血浆精氨酸和赖氨酸水平升高，很可能是由于新型致病性变异杂合子所致。