Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Orphanet J Rare Dis. 2023 Oct 5;18(1):311. doi: 10.1186/s13023-023-02929-6.
Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression at the narrowed foramen magnum and hydrocephalus. This study aims to construct growth references for height, weight, and head circumference (HC) of young achondroplasia patients in Korea and to evaluate the predictability of the necessity and timing of neurosurgical procedures through growth patterns.
Growth data were collected from achondroplasia patients who visited our institution between January 2002 and August 2022. First, we constructed percentile growth curves of height, weight, and HC for the patients under 3 years of age with the generalized additive model for location, scale, and shape (GAMLSS). Second, the growth patterns of the patients with hydrocephalus who underwent neurosurgical procedures such as foramen magnum decompression (FMD) and ventriculoperitoneal (VP) shunt were analyzed.
There were 125 achondroplasia patients, including 67 males and 58 females. Among 125 patients, 46 underwent FMD, and 5 underwent VP shunt. As short stature and macrocephaly were typical characteristics of achondroplasia, the height of achondroplasia was lower than that of the general population, and HC in achondroplasia showed accelerated growth postnatally. There were no significant changes in HC in hydrocephalus patients before they underwent neurosurgical procedures. The influence of hydrocephalus on the growth patterns of HC in achondroplasia seemed insignificant.
Growth references for height, weight, and HC in young achondroplasia patients were constructed. It is the first report of growth patterns of achondroplasia in Korea. Unlike other pediatric patients, the diagnosis of hydrocephalus and the necessity of neurosurgical procedures are hard to be predicted with HC in achondroplasia. Neuroimaging should be considered for achondroplasia patients with neurological symptoms.
软骨发育不全是一种常染色体显性遗传病，主要影响骨骼生长，导致明显的身材矮小。从神经外科的角度来看，患者有时会在狭窄的颅颈交界区出现脊髓压迫和脑积水。本研究旨在构建韩国年轻软骨发育不全患者的身高、体重和头围（HC）生长参考值，并通过生长模式评估神经外科手术的必要性和时机的预测性。
从 2002 年 1 月至 2022 年 8 月在我院就诊的软骨发育不全患者中收集生长数据。首先，我们使用广义加性模型（GAMLSS）为年龄在 3 岁以下的患者构建身高、体重和 HC 的百分位数生长曲线。其次，分析了接受颅颈交界区减压（FMD）和脑室-腹腔（VP）分流等神经外科手术的脑积水患者的生长模式。
共纳入 125 例软骨发育不全患者，其中男 67 例，女 58 例。125 例患者中，46 例行 FMD，5 例行 VP 分流术。由于身材矮小和大头是软骨发育不全的典型特征，软骨发育不全患者的身高低于一般人群，HC 出生后呈加速生长。脑积水患者在接受神经外科手术前，HC 无明显变化。脑积水对软骨发育不全患者 HC 生长模式的影响似乎不明显。
构建了年轻软骨发育不全患者的身高、体重和 HC 生长参考值。这是韩国软骨发育不全生长模式的首次报告。与其他儿科患者不同，HC 难以预测软骨发育不全患者的脑积水诊断和神经外科手术的必要性。对于有神经症状的软骨发育不全患者，应考虑进行神经影像学检查。
