脑肌状桑托马托斯与精神分裂症类似的疾病呈现:一个病例报告
Chen-Xi Ling1, Shu-Zhan Gao1,2, Ri-Dong Li3
1Department of Psychiatry, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing 210029, Jiangsu Province, China.
大脑肌性桑托马托斯 (CTX) 是一种罕见的脂质疾病,可表现为精神症状,延迟诊断. 早期识别CTX临床特征对于及时干预和改善患者结果至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 神经精神病学是一种神经精神病学.
背景情况:
- 大脑肌性桑托马托症 (CTX) 是一种罕见的自体衰退性疾病,由CYP27A1基因突变引起.
- CTX的特点是脂质积累,导致各种临床表现.
更多相关视频
07:50A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
09:57Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
相关概念视频
Schizophrenia
Positive Symptoms of Schizophrenia: Hallucinations and Delusions
Thought Disorders
Disorganized and unusual thought processes mark thought disorders in schizophrenia. One key feature is disorganized speech, where an individual's conversation includes...
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Positive Symptoms Schizophrenia: Hallucinations and Delusions
Hallucinations
Hallucinations in...
Negative and Cognitive Symptoms of Schizophrenia
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
