天冬氨酰葡糖胺尿症患者头部尺寸减小。

Reduction in head size in patients with aspartylglucosaminuria.

作者信息

Arvio M, Arvio P, Hurmerinta K, Pirinen S, Sillanpää M

机构信息

Pääjärvi Intermunicipal Association, Lammi, Finland.

出版信息

Acta Neurol Scand. 2005 Nov;112(5):335-7. doi: 10.1111/j.1600-0404.2005.00492.x.

DOI:10.1111/j.1600-0404.2005.00492.x

PMID:16218917

Abstract

OBJECTIVE

To show that the head may shrink in adult patients with aspartylglucosaminuria (AGU), a neurodegenerative disease.

METHOD

The head circumference (HC) of 40 adult patients (age at baseline 15 to 47) was measured twice with an interval of 10 years. Of these 40, 21 aged 15-47 and 19 young patients aged 5-14 as well as 40 healthy controls underwent lateral cephalometric radiography.

RESULTS

During 10 years' follow-up, the HC of 26 (65%) had decreased by 1 to 4.5 cm (mean 1.7, P < 0.001). Evaluation of lateral skull radiographs revealed that patients aged 15 or more had significantly thicker skulls than did younger patients (P = 0.015). Mean intracranial length (glabella-opisthocranium) of the patients aged 15 or more was significantly shorter than in patients aged 14 years or less (P = 0.029). These measurements indicated that brain volume had decreased.

CONCLUSIONS

Macrocephalia in childhood followed by reduced brain volume in adulthood is evident in patients with AGU and is reflected by a decrease in head size.

摘要

目的

证明患有天冬氨酰葡糖胺尿症（AGU，一种神经退行性疾病）的成年患者头部可能会缩小。

方法

对40例成年患者（基线年龄15至47岁）的头围（HC）进行了两次测量，间隔为10年。在这40例患者中，21例年龄在15 - 47岁，19例年轻患者年龄在5 - 14岁，以及40例健康对照者接受了头颅侧位X线摄影。

结果

在10年的随访期间，26例（65%）患者的头围减少了1至4.5厘米（平均1.7厘米，P < 0.001）。对头颅侧位X线片的评估显示，15岁及以上患者的颅骨明显比年轻患者厚（P = 0.015）。15岁及以上患者的平均颅内长度（眉间 - 枕骨）明显短于14岁及以下患者（P = 0.029）。这些测量结果表明脑容量减少。