Leibovitch Liron, Gorenshtein Alon, Bibi Erez, Uri Ayala
Department of Medicine, Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
Department of Child and Adolescent Psychiatry, Ziv Medical Centre, Safed, Israel.
BJPsych Open. 2025 Aug 1;11(5):e170. doi: 10.1192/bjo.2025.10807.
Malignant catatonia represents a severe and life-threatening neuropsychiatric syndrome that demands prompt recognition and intervention. This condition poses particular diagnostic and management challenges in adolescents, especially when genetic predispositions and neurodevelopmental vulnerabilities complicate the clinical picture.
This report examines a complex case of malignant catatonia in a 17-year-old female with developmental delay but no prior psychiatric diagnoses, who developed severe cognitive and behavioural deterioration. We explore the diagnostic complexities, therapeutic challenges and potential genetic contributions to her presentation.
We present a comprehensive case analysis documenting clinical progression, treatment responses and genetic findings through whole-exome sequencing. The patient's journey spans from initial presentation to long-term follow-up, with systematic assessment using standardised catatonia rating scales.
The patient's condition manifested as severe psychomotor impairment, mutism and autonomic instability, showing minimal response to initial treatment. Electroconvulsive therapy yielded significant but temporary amelioration of symptoms. Genetic analysis revealed a heterozygous mutation in the pogo transposable element derived with zinc finger domain (POGZ) gene - a gene implicated in neurodevelopmental disorders - suggesting this variant contributed to her neurobiological vulnerability. Concurrent features of functional neurological disorder further compounded the diagnostic complexity, illustrating the intricate interplay between genetic susceptibility and clinical presentation.
This case illuminates the challenges clinicians face when diagnosing and treating complex neuropsychiatric presentations in adolescents, particularly when genetic predispositions intersect with functional neurological symptoms. The findings emphasise how comprehensive, multidisciplinary approaches remain essential for optimal patient care. Moreover, this case highlights the selective utility of genetic investigation in elucidating potential underpinnings of complex, treatment-resistant malignant catatonia, whilst demonstrating that genetic variants may confer vulnerability rather than direct causation.
恶性紧张症是一种严重且危及生命的神经精神综合征，需要及时识别和干预。这种情况在青少年中带来了特殊的诊断和管理挑战，尤其是当遗传易感性和神经发育脆弱性使临床情况变得复杂时。
本报告研究了一名17岁发育迟缓但既往无精神科诊断的女性患者的复杂恶性紧张症病例，该患者出现了严重的认知和行为恶化。我们探讨了诊断复杂性、治疗挑战以及其临床表现的潜在遗传因素。
我们通过全外显子测序呈现了一份全面的病例分析，记录临床进展、治疗反应和基因发现。患者的病程从初次就诊到长期随访，使用标准化紧张症评定量表进行系统评估。
患者的病情表现为严重的精神运动障碍、缄默症和自主神经不稳定，对初始治疗反应甚微。电休克治疗使症状有显著但短暂的改善。基因分析揭示了锌指结构域相关的pogo转座元件（POGZ）基因中的一个杂合突变——该基因与神经发育障碍有关——表明这个变异导致了她的神经生物学易感性。功能性神经障碍的并发特征进一步增加了诊断复杂性，说明了遗传易感性与临床表现之间的复杂相互作用。
本病例阐明了临床医生在诊断和治疗青少年复杂神经精神疾病时所面临的挑战，特别是当遗传易感性与功能性神经症状相互交织时。研究结果强调了全面、多学科方法对于优化患者护理的重要性。此外，本病例突出了基因检测在阐明复杂难治性恶性紧张症潜在病因方面的选择性效用，同时表明基因变异可能带来易感性而非直接导致疾病。
