病例报告:1例EAST(癫痫、共济失调、感音神经性耳聋、管状病变)综合征患者步态恶化

Gökce Hatipoglu Majernik, J. P. Martin
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引用次数: 0

摘要

癫痫、共济失调、感觉神经性耳聋、神经管病(EAST)综合征或癫痫发作、感觉神经型耳聋、共济失调和智力迟钝(SeSAME)是一种非常罕见的常染色体隐性疾病,由KCNJ10基因的纯合或复合杂合功能缺失引起,影响<1:10.0000人。在这种综合征中,行走问题,如行走迟缓和共济失调很常见。由于其罕见性,这种疾病在成年人中仍然无法诊断。在这里,我们描述了一名18岁时患有遗传证实的EAST综合征的患者。患者在25岁时确诊7年后,行走能力急剧下降。然而,步态恶化的主要原因是在进一步检查中通过磁共振成像确定的颈椎间盘突出压迫颈脊髓。颈脊髓病导致该患者痉挛加剧,步态恶化。他接受了单级颈椎前路减压融合术,没有任何并发症,术后病情有所好转。尽管有报道称EAST综合征患者的神经系统表现恶化,但深入的临床、放射学和实验室检查可以阐明运动功能日益恶化的情况。可能会出现伴随的病理,应牢记这一点,以便更好地诊断和治疗,尤其是对EAST综合征患者。
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Case Report: Gait Deterioration in a Patient with EAST (Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy) Syndrome
Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy (EAST) syndrome or seizures, sensorineural deafness, ataxia, mental retardation (SeSAME) is a very rare, autosomal recessive disorder resulting from homozygous or compound heterozygous loss-of-function variations in the KCNJ10 gene, affecting <1:1.000.000 individuals. Ambulation problems, such as ambulation delays and ataxia, are common in this syndrome. The disorder can remain undiagnosed in adults due to its rarity. Here, we describe the case of a patient with genetically proven EAST syndrome at the age of 18. The patient experienced a dramatic deterioration in his walking ability 7 years after the diagnosis when he was 25 years old. However, the main reason for gait deterioration was cervical spinal cord compression by cervical disc prolapse which was determined through magnetic resonance imaging during further examinations. Cervical myelopathy caused increased spasticity and gait deterioration in this patient. He underwent single-level anterior cervical decompression and fusion without any complication and improved postoperatively. Although worsening neurological findings in patients with EAST syndrome have been reported, in-depth clinical, radiological, and laboratory examinations can clarify the increasing deterioration in motor functions. Concomitant pathologies can occur, which should be kept in mind for better diagnosis and treatment, especially for patients with EAST syndrome.
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来源期刊
Journal of Intellectual Disability - Diagnosis and Treatment
Journal of Intellectual Disability - Diagnosis and Treatment Social Sciences-Health (social science)
CiteScore
1.00
自引率
0.00%
发文量
29
期刊介绍: The journal aims to describe the research work on Intellectual Disability Diagnosis and Treatment in children and adults. It covers not just the technical aspects of the procedures in prenatal, newborn and postnatal screening, but also the impact which the process of testing and treatment has on individuals, parents, families and public-health in general. The journal seeks to publish, but is a not restricted to, Genetic Intellectual Disability Syndromes, using a range of approaches from medicine, psychiatry, psychology, pharmacy, biology, epidemiology, bioinformatics, biopharmaceutical to association and population studies as well as sociological, ethical, philosophical, legal and quality control issues with the ultimate goal of advancing the knowledge on the diagnosis, prevention, and treatment of the Intellectual Disabilities. The journal publishes original research articles, review articles, case reports and short communications(Letter article).
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