胫骨假关节：1例4月龄婴儿1型神经纤维瘤病的急诊科表现

Pseudarthrosis of the tibia: emergency department presentation of neurofibromatosis type 1 in a 4-month-old infant.

作者信息

Berber R, Berber O, Taguri N, Sekhar Maroju R, Abdulla S

机构信息

Nottingham City Hospital NHS Trust, East Midlands North Deanery, Nottingham, UK.

出版信息

Emerg Med J. 2009 Apr;26(4):306-7. doi: 10.1136/emj.2008.064105.

DOI:10.1136/emj.2008.064105

PMID:19307407

Abstract

Congenital pseudarthrosis of the tibia is a complex and rare condition of infancy. Long bone pseudarthrosis is strongly linked to neurofibromatosis, a common genetic disorder in which pseudarthrosis tends to occur early. This report describes a similar emergency department presentation in a 4-month-old infant with subsequent diagnosis of neurofibromatosis type 1.

摘要

先天性胫骨假关节是一种复杂且罕见的婴儿期疾病。长骨假关节与神经纤维瘤病密切相关，神经纤维瘤病是一种常见的遗传性疾病，其中假关节往往较早出现。本报告描述了一名4个月大婴儿在急诊科的类似表现，随后被诊断为1型神经纤维瘤病。