Department of Radiology, Peking University Shenzhen Hospital, 518035, Shenzhen, Guangdong, China.
Department of Radiology, Shenzhen Kangning Hospital, Shenzhen Mental Health Center, 518020, Shenzhen, Guangdong, China.
BMC Neurol. 2021 May 31;21(1):213. doi: 10.1186/s12883-021-02242-4.
DDMS is a rare disease diagnosed by clinical and radiological characteristics. But the complexity of radiological and clinical manifestations of DDMS has become a challenge diagnostically. To date, the reported cases with DDMS had highly varied clinical manifestations including seizures, contralateral hemiplegia/hemiparesis, facial asymmetry, mental retardation, etc. In addition to typical clinical findings, some new characteristics have been recently added to the spectrum of DDMS. However, few cases have been reported to be associated with neuropsychiatric symptoms according to the literature. This study aimed to investigate the neuropsychiatric manifestations associated with Dyke-Davidoff-Masson syndrome (DDMS) and related imaging findings.
This study included 7 patients diagnosed with DDMS between 2014 and 2020. The clinical characteristics, neuropsychiatric manifestations, and radiological results were retrospectively evaluated.
Seven patients (five males and two females) with a mean age of 28.0 ± 9.73 (range 15.0-41.0) years were included. Five patients were admitted to the psychiatric unit due to psychological and behavioral disorders. Two patients were referred to the neurology unit mainly due to epilepsy. Six patients had epileptic seizures, 4 had hemiplegia, 3 had mental retardation, 2 patients had external ear deformities, and 2 had facial asymmetry. Neuropsychiatric symptoms were presented in 6 (85.7 %) cases. Cases 2-6 developed affective disorders. Deficits in verbal communication, impairment of social interaction, lack of insight, adulia and hypobulia appeared in cases 1-4. Schizophrenia with apathy, and epileptic schizoid psychosis were observed in cases 4 and 5 respectively. Case 6 had behavioral disorders, hyperactivity, tic disorder, mental retardation, anxiety, catatonic symptoms and suicidal tendency. Case 7 had seizures and mental retardation, and no psychiatric symptoms were presented. Radiological examinations showed unilateral cerebral atrophy, enlarged lateral ventricles, and various compensatory hypertrophy of the skull in all cases. The midline structure has shifted to the affected side in 5(71.4 %) cases. Atrophy of the basal ganglia or brain stem was observed in 4(57.1 %) cases.
The hallmark imaging manifestations of DDMS facilitated the diagnosis in most cases. This study illustrated that a variety of psychoneurotic disorders and ear abnormalities were correlated with DDMS.
DDMS 是一种通过临床和影像学特征诊断的罕见疾病。但 DDMS 的影像学和临床表现的复杂性在诊断上具有挑战性。迄今为止，报告的 DDMS 病例临床表现差异较大，包括癫痫发作、对侧偏瘫/轻偏瘫、面部不对称、智力迟钝等。除了典型的临床发现外，DDMS 的谱系中最近又增加了一些新特征。然而，根据文献报道，很少有病例与神经精神症状相关。本研究旨在探讨与 Dyke-Davidoff-Masson 综合征（DDMS）相关的神经精神表现及相关影像学发现。
本研究纳入了 2014 年至 2020 年间诊断为 DDMS 的 7 例患者。回顾性评估了患者的临床特征、神经精神表现和影像学结果。
本研究纳入了 7 例患者（男性 5 例，女性 2 例），平均年龄为 28.0±9.73 岁（范围 15.0-41.0）。5 例患者因心理和行为障碍入住精神科病房，2 例患者因癫痫主要入住神经内科病房。6 例患者出现癫痫发作，4 例患者出现偏瘫，3 例患者出现智力迟钝，2 例患者存在外耳畸形，2 例患者存在面部不对称。6 例患者出现神经精神症状（85.7%）。2-6 号病例出现情感障碍，1-4 号病例出现言语沟通障碍、社交互动障碍、缺乏洞察力、幼稚和迟缓。4 号和 5 号病例分别出现精神分裂症伴冷漠和癫痫分裂样精神病。6 号病例出现行为障碍、多动、抽搐障碍、智力迟钝、焦虑、紧张症症状和自杀倾向。7 号病例出现癫痫发作和智力迟钝，无神经精神症状。影像学检查显示所有患者均存在单侧脑萎缩、侧脑室扩大和颅骨各种代偿性肥大，5 例（71.4%）患者的中线结构向患侧移位，4 例（57.1%）患者存在基底节或脑干萎缩。
DDMS 的主要影像学表现有助于大多数病例的诊断。本研究表明，各种精神神经障碍和耳部异常与 DDMS 相关。
