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与新发性癫痫发作相关的言语和语言延迟揭示了Dandy-Walker变异型。

Speech and Language Delays Associated With New-Onset Seizures Revealing Dandy-Walker Variant.

作者信息

Moudaffar Sara, Arraji Mohssine, Aabbassi Bouchra, Adali Iman, Manoudi Fatiha

机构信息

Child and Adolescent Psychiatry, Ibn Nafis Hospital, University Hospital Center Mohammed VI, Marrakesh, MAR.

Child, Health and Development Research Laboratory, Faculty of Medicine and Pharmacy, Marrakesh, MAR.

出版信息

Cureus. 2024 Jan 23;16(1):e52802. doi: 10.7759/cureus.52802. eCollection 2024 Jan.

Abstract

Dandy-Walker malformation or syndrome is a rare congenital deformity in which the cerebellar vermis is hypoplastic and upwardly rotated, the fourth ventricle enlarged, and the posterior fossa cystically dilated. It represents the most common type of posterior fossa malformations that are usually diagnosed before the age of one year old. We present a seven-year-old boy with a history of neonatal hypotonia and delayed walking, who presented with speech and language difficulties. His physical examination and cognitive tests were unremarkable. The patient's brain magnetic resonance imaging showed a partial defect of the inferior part of the cerebellar vermis and communication between a normal-sized cisterna magna and the fourth ventricle. There were no other coexisting central nervous system or systemic anomalies. This isolated inferior vermian hypoplasia was compatible with an uncommon variant of the Dandy-Walker syndrome. The aim of this report is to provide insight into the importance of implementing a pediatrician-psychiatrist collaboration in the clinical decision-making process of such developmental delay cases. What makes the present case further interesting are the new-onset unprovoked seizures that developed and recurred in the setting of such isolated and less severe posterior fossa anomaly, raising both diagnostic and therapeutic challenges.

摘要

丹迪-沃克畸形或综合征是一种罕见的先天性畸形,其中小脑蚓部发育不全并向上旋转,第四脑室扩大,后颅窝呈囊性扩张。它是最常见的后颅窝畸形类型,通常在一岁前被诊断出来。我们报告一名七岁男孩,有新生儿肌张力低下和学步延迟病史,现出现言语和语言困难。他的体格检查和认知测试无异常。患者的脑磁共振成像显示小脑蚓部下部分存在部分缺损,正常大小的枕大池与第四脑室相通。没有其他并存的中枢神经系统或全身异常。这种孤立的蚓部下发育不全与丹迪-沃克综合征的一种罕见变异相符。本报告的目的是深入探讨在这类发育迟缓病例的临床决策过程中实施儿科医生-精神科医生合作的重要性。使本病例更具趣味性的是,在这种孤立且不太严重的后颅窝异常情况下出现并复发了新发的无端癫痫发作,这带来了诊断和治疗方面的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cba/10805175/5a6b39b72ad0/cureus-0016-00000052802-i01.jpg

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