[科芬-洛里综合征与高脯氨酸血症]

[Coffin-Lowry syndrome and hyperprolinemia].

作者信息

Lacombe D, Parrot-Roulaud F, Castell J F, Serville F, Hehunstre J P, Battin J

机构信息

Service de Pédiatrie et Génétique Médicale, Pellegrin-Hôpital d'Enfants, Bordeaux.

出版信息

Arch Fr Pediatr. 1993 Jun-Jul;50(6):489-92.

PMID:8135609

Abstract

BACKGROUND

The main features of the Coffin-Lowry syndrome are mental retardation and features of a peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by X-rays and kyphoscoliosis. Inheritance is probably X-linked dominant. Its early diagnosis is difficult.

CASE REPORT

A 31 month-old boy was admitted for mental retardation. His weight and height were normal, but his facies showed telecanthus, anteverted nares and a prominent frontal region. His hands appeared puffy with bulbous tapering fingers. Amino-acid chromatography showed hyperprolinemia (732 mumol/l) plus iminoglycinuria. His mother had a short stature, mental retardation and similar, although minor, manifestations of the Coffin-Lowry syndrome in her face, hands and fingers. She had moderate hyperprolinemia (391 mumol/l) without hyperglycinuria. The patient's father showed no physical abnormalities, but he also had hyperprolinemia (671 mumol/l) and hyperglycinuria.

CONCLUSION

The association of the Coffin-Lowry syndrome and hyperprolinemia in this family seems fortuitous.

摘要

背景

科芬-洛里综合征的主要特征是智力发育迟缓以及具有特殊拳击手鼻、大耳朵、手指逐渐变细、X线显示指骨呈鼓槌状和脊柱侧凸等特征。其遗传方式可能为X连锁显性遗传。早期诊断困难。

病例报告

一名31个月大的男孩因智力发育迟缓入院。他的体重和身高正常，但面容表现为内眦距增宽、鼻孔前倾和额部突出。他的双手看起来肿胀，手指呈球根状逐渐变细。氨基酸色谱分析显示高脯氨酸血症（732 μmol/l）伴亚氨基甘氨酸尿症。他的母亲身材矮小、智力发育迟缓，面部、手部和手指有类似但较轻的科芬-洛里综合征表现。她有中度高脯氨酸血症（391 μmol/l），无高甘氨酸尿症。患者的父亲没有身体异常，但也有高脯氨酸血症（671 μmol/l）和高甘氨酸尿症。