Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood.

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2023-08-01 Epub Date: 2024-05-03 DOI:10.1080/13554794.2024.2346985

Rita Abrunzo

引用次数: 0

Abstract

Lissencephaly is a very rare clinical condition that affects the formation of the brain and causes severe psychomotor retardation, convulsions and muscular spasticity or hypotonia, often also associated with respiratory problems, facial dysmorphisms, abnormalities of the fingers and toes and difficulty swallowing resulting in reduced life expectancy. The clinical case described in the following article demonstrates the diagnostic process and rehabilitation treatment of a patient through a narrative review of the scientific literature and the presentation of this condition in order to provide indications to guide rehabilitation treatment in childhood.

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无脑畸形：介绍一例通过 MLPA 方法确诊的 LIS 1 临床病例，以及儿童康复治疗的适应症。

无脑畸形是一种非常罕见的临床病症，会影响大脑的形成，导致严重的精神运动发育迟缓、抽搐和肌肉痉挛或肌张力低下，通常还伴有呼吸系统问题、面部畸形、手指和脚趾畸形以及吞咽困难，从而导致预期寿命缩短。下文中描述的临床病例通过对科学文献的叙述性回顾和这一病症的表现形式，展示了患者的诊断过程和康复治疗，从而为指导儿童康复治疗提供指征。

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

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.