Mucopolysaccharidosis Type I, Hematopoietic Cell Transplantation and Neurodevelopmental Profile: A Case Report

Q4 Medicine
Rafael Inácio
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引用次数: 0

Abstract

Type I mucopolysaccharidosis is caused by an alpha-L-iduronidase deficit and has three phenotypic expressions. Hurler syndrome includes dysmorphias, hirsutism, hepatosplenomegaly, hydrocephalus, skeletal deformities, recurrent infections, heart abnormalities, and global developmental delay. Hematopoietic cell transplantation provides a continuous source of alpha-L-iduronidase throughout the body, including the central nervous system and, currently, appears to be the gold-standard therapy for this pathology. We present the case of a six-years-old child with the diagnosis of Hurler syndrome, submitted to hematopoietic cell transplantation and integrated in a structured support plan with special education, speech therapy and early home intervention, who presents a trend of convergence with the normality in all the development areas, except for locomotor skills and eye-hand coordination. These findings highlight the positive impact of the hematopoietic cell transplantation together with the early and structured intervention of a multidisciplinary team in the neurodevelopmental profile of children affected by Hurler syndrome.
I型粘多糖病、造血细胞移植和神经发育概况:一例报告
I型粘多糖病是由α - l -糖醛酸酶缺陷引起的,有三种表型表达。赫勒综合征包括畸形、多毛、肝脾肿大、脑积水、骨骼畸形、复发性感染、心脏异常和整体发育迟缓。造血细胞移植在包括中枢神经系统在内的全身提供了α - l -伊杜糖醛酸酶的持续来源,目前似乎是治疗这种病理的金标准疗法。我们报告一个六岁的儿童,诊断为Hurler综合征,接受造血细胞移植,并结合特殊教育,语言治疗和早期家庭干预的结构化支持计划,除了运动技能和眼手协调能力外,该儿童在所有发展领域都呈现出与正常趋同的趋势。这些发现强调了造血细胞移植以及多学科团队对受赫勒综合征影响的儿童神经发育的早期和结构化干预的积极影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Sinapse
Sinapse Medicine-Neurology (clinical)
CiteScore
0.10
自引率
0.00%
发文量
26
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