Case report: Neuropsychological assessment in a patient with 4H leukodystrophy.

IF 3 3区 心理学 Q2 CLINICAL NEUROLOGY Clinical Neuropsychologist Pub Date : 2024-07-01 Epub Date: 2023-11-16 DOI:10.1080/13854046.2023.2279697
Aya Haneda, Jennifer K Hoots, Hannah A Hagy, Maureen Lacy
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Abstract

Objective: POLR3-HLD or 4H leukodystrophy is an autosomal recessive disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, and caused by variants in POLR3A, POLR3B, POLR1C, or POLR3K genes. Neurological and non-neurological clinical features and disease severity vary. While previous studies reference variable cognition, this is the first report of 4H detailing a comprehensive neuropsychological assessment. Method: The current study presents a 20-year-old, English-speaking, right-handed, non-Hispanic White female with 12 years of education with genetically confirmed 4H POLR3B-related leukodystrophy without hormonal replacement treatment. Results: At age 4, developmental delays, ataxia, hearing loss, and abnormal dentition were present. Imaging, endocrinology, and neurologic examinations revealed hypomyelination, reduced cerebellar volume, delayed bone age density, osteopenia, and evidence of adrenarche without signs of true puberty. Neuropsychological assessment at age 20 revealed global cognitive impairment with intellectual, attention, verbal memory retrieval, construction, executive (e.g. processing speed, sustained attention) and math computation deficits, along with behavioral dysregulation. Conclusion: We present the first detailed neuropsychological assessment of a patient with 4H leukodystrophy. The neuropsychological assessment revealed cognitive and behavioral dysexecutive deficits aligning with hypomyelination observed on imaging. Further longitudinal studies are needed to shed light on the neurobehavioral presentation associated with this disorder to assist care providers, patients, and their families.

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病例报告:1例4H脑白质营养不良患者的神经心理学评估。
目的:POLR3-HLD或4H白质营养不良症是一种常染色体隐性遗传病,其特征为髓磷脂沉积减退、骨质疏松和促性腺功能低下,由POLR3A、POLR3B、POLR1C或POLR3K基因变异引起。神经学和非神经学临床特征和疾病严重程度各不相同。虽然以前的研究参考了可变认知,但这是4H详细介绍全面神经心理学评估的第一份报告。方法:本研究报告了一名20岁,英语,右撇子,非西班牙裔白人女性,受教育12年,遗传确诊为4H polr3b相关脑白质营养不良,未经激素替代治疗。结果:4岁时出现发育迟缓、共济失调、听力损失和牙列异常。影像学、内分泌学和神经学检查显示髓鞘增生减少、小脑体积减小、骨龄密度延迟、骨质减少,并有肾上腺素增高的迹象,但没有真正青春期的迹象。20岁时的神经心理学评估显示整体认知障碍,包括智力、注意力、言语记忆检索、构建、执行(如处理速度、持续注意力)和数学计算缺陷,以及行为失调。结论:我们提出了第一个详细的神经心理学评估患者的4H脑白质营养不良。神经心理学评估显示认知和行为执行障碍与影像学观察到的髓鞘退化一致。需要进一步的纵向研究来阐明与这种疾病相关的神经行为表现,以帮助护理人员、患者及其家属。
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来源期刊
Clinical Neuropsychologist
Clinical Neuropsychologist 医学-临床神经学
CiteScore
8.40
自引率
12.80%
发文量
61
审稿时长
6-12 weeks
期刊介绍: The Clinical Neuropsychologist (TCN) serves as the premier forum for (1) state-of-the-art clinically-relevant scientific research, (2) in-depth professional discussions of matters germane to evidence-based practice, and (3) clinical case studies in neuropsychology. Of particular interest are papers that can make definitive statements about a given topic (thereby having implications for the standards of clinical practice) and those with the potential to expand today’s clinical frontiers. Research on all age groups, and on both clinical and normal populations, is considered.
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